5,291 results match your criteria Albinism


Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus.

Brain 2019 Apr 22. Epub 2019 Apr 22.

Molecular Genetics Laboratory, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany.

Herein we present a consanguineous family with three children affected by foveal hypoplasia with infantile nystagmus, following an autosomal recessive mode of inheritance. The patients showed normal electroretinography responses, no signs of albinism, and no anterior segment or brain abnormalities. Upon whole exome sequencing, we identified a homozygous mutation (c. Read More

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https://academic.oup.com/brain/advance-article/doi/10.1093/b
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http://dx.doi.org/10.1093/brain/awz098DOI Listing
April 2019
5 Reads

Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families.

Eye (Lond) 2019 Apr 17. Epub 2019 Apr 17.

Department of Human Genetics and Molecular Biology, University of Health Sciences (UHS), Lahore, Pakistan.

Purpose: To investigate eight previously unreported Pakistani families with genetically undefined OCA for mutations in TYR.

Methods: Sanger sequencing of TYR has been performed in eight families with OCA phenotype. Mutation analysis was performed to establish the pathogenic role of novel mutation. Read More

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http://dx.doi.org/10.1038/s41433-019-0436-9DOI Listing

How sequence variants of a plastid-replicating viroid with one single nucleotide change initiate disease in its natural host.

RNA Biol 2019 Apr 16:1-12. Epub 2019 Apr 16.

a Instituto de Biología Molecular y Celular de Plantas (CSIC-UPV) , Valencia , Spain.

Understanding how viruses and subviral agents initiate disease is central to plant pathology. Whether RNA silencing mediates the primary lesion triggered by viroids (small non-protein-coding RNAs), or just intermediate-late steps of a signaling cascade, remains unsolved. While most variants of the plastid-replicating peach latent mosaic viroid (PLMVd) are asymptomatic, some incite peach mosaics or albinism (peach calico, PC). Read More

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http://dx.doi.org/10.1080/15476286.2019.1600396DOI Listing
April 2019
1 Read

Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing.

Ann Med 2019 Apr 16:1-8. Epub 2019 Apr 16.

c Department of Hematology and Oncology, University Hospital of Morales Meseguer, Centro Regional de Hemodonación, University of Murcia , Murcia , Spain.

Background: Hermansky-Pudlak syndrome (HPS) is a rare inherited platelet disorder characterized by bleeding diathesis, oculocutaneous albinism (OCA) and a myriad of often-serious clinical complications.

Methods: We established the clinical and laboratory phenotype and genotype of six unrelated pedigrees comprising ten patients with clinical suspicion of HPS; including platelet aggregation, flow cytometry, platelet dense granule content, electron microscopy and high-throughput sequencing (HTS).

Results: The clinical presentation showed significant heterogeneity and no clear phenotype-genotype correlations. Read More

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http://dx.doi.org/10.1080/07853890.2019.1587498DOI Listing
April 2019
1 Read
3.886 Impact Factor

Melanosome maturation proteins Oca2, Mitfa and Vps11 are differentially required for cisplatin resistance in zebrafish melanocytes.

Exp Dermatol 2019 Apr 11. Epub 2019 Apr 11.

School of Molecular Biosciences, Washington State University, Vancouver, Vancouver, WA, 98686.

Melanoma is the deadliest form of skin cancer, partially due to its inherent resistance to therapy. Here, we test in live larvae the hypothesis that mature melanosomes contribute to resistance to chemotherapeutic drug, cisplatin, via drug sequestration. We also compare three melanosome biogenesis proteins - microphthalmia-associated transcription factor (Mitfa), vacuolar protein sorting 11 (Vps11) and oculocutaneous albinism 2 (Oca2) to determine their respective contributions to chemoresistance. Read More

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http://dx.doi.org/10.1111/exd.13937DOI Listing
April 2019
1 Read

Hematopoietic stem cell transplantation in children with Griscelli Syndrome type 2: Experience and outcomes.

Indian J Pathol Microbiol 2019 Apr-Jun;62(2):279-282

Department of Transplant Immunology and Immunogenetics, All India Institute of Medical Sciences, New Delhi, India.

Griscelli syndrome is a rare autosomal recessive inherited disorder characterized by hypopigmentation, silver colored hair, and associated immunological deficiency, which proves fatal in the absence of timely intervention. Our patients diagnosed with Griscelli syndrome-2 presented with fever, hepatosplenomegaly, and deranged hematological and biochemical parameters. Both cases underwent detailed investigations comprising of hair mount microscopic examination, degranulation assay, and mutational studies. Read More

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http://dx.doi.org/10.4103/IJPM.IJPM_645_18DOI Listing
April 2019
1 Read

Teratogenicity and accumulation of triclosan in the early life stages of four food fish during the bioassay.

Ecotoxicol Environ Saf 2019 Jul 4;176:346-354. Epub 2019 Apr 4.

Department of Zoology, Guru Nanak Dev University, Amritsar, 143005, Punjab, India. Electronic address:

TCS [5-chloro-2-(2,4-dichlorophenoxy)phenol] caused a concentration dependent delay in embryonic development, delay and decline in hatching and reduction in length and weight of hatchlings along with an increase in abnormal/deformed embryos and larvae and percent mortality. These parameters varied in a species specific manner and increased with TCS residue in body. The 96 h LC values of TCS for Cyprinus carpio, Ctenopharyngodon idella, Labeo rohita and Cirrhinus mrigala were estimated at 0. Read More

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http://dx.doi.org/10.1016/j.ecoenv.2019.03.102DOI Listing
July 2019
1 Read

Interocular transfer of visual memory - Influence of visual impairment and abnormalities of the optic chiasm.

Neuropsychologia 2019 Apr 2;129:171-178. Epub 2019 Apr 2.

Department of Ophthalmology, Otto-von-Guericke-University Magdeburg, Germany; Center for Behavioural Brain Sciences, Magdeburg, Germany. Electronic address:

Due to an increased crossing of the optic nerve fibers at the optic chiasm in albinism, the visual cortex receives largely monocular input from the contralateral eye. Here we investigated whether this obstruction of binocular integration at the cortical input stage also impacts on interocular information exchange at the high processing level of visual memory. Interocular transfer (IOT) of visual memory retrieval was tested psychophysically after monocular encoding in 8 albinotic participants and 24 healthy controls. Read More

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http://dx.doi.org/10.1016/j.neuropsychologia.2019.03.018DOI Listing
April 2019
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Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism.

Ophthalmic Genet 2019 Apr 3:1-4. Epub 2019 Apr 3.

a Service de Génétique Médicale , CHU de Bordeaux , Bordeaux , France.

Background: Congenital nystagmus is one of the most common neuro-ophthalmological disorders. X chromosome-linked forms are associated with pathogenic variants of the GPR143 and FRMD7 genes.

Materials And Methods: Patients' DNA was analyzed using a next-generation sequencing (NGS) panel of genes involved in albinism and related pathologies (TYR, OCA2, TYRP1, SLC45A2, SLC24A5, C10ORF11, GPR143, SLC38A8, HPS 1 to 10, LYST, MITF, FRMD7) Results: We report a 4 generation family with 5 affected members initially referred for molecular diagnosis of ocular albinism. Read More

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http://dx.doi.org/10.1080/13816810.2019.1592201DOI Listing
April 2019
1 Read

Coexistence of Hermansky-Pudlak syndrome and JAK2-positive essential thrombocythemia.

Ultrastruct Pathol 2019 Apr 1:1-5. Epub 2019 Apr 1.

b Department of Histology, Cerrahpasa Faculty of Medicine , Istanbul University-Cerrahpasa , Istanbul , Turkey.

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder consisting of oculocutaneous albinism, platelet storage pool deficiency, and lysosomal accumulation of ceroid lipofuscin. The storage pool deficiency of HPS is associated with the lack of dense bodies in the platelets, resulting in impaired response in the secondary phase of aggregation. Patients with HPS have normal coagulation tests; however, their bleeding time is usually prolonged despite normal or increased platelet counts. Read More

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http://dx.doi.org/10.1080/01913123.2019.1593269DOI Listing
April 2019
6 Reads
1.133 Impact Factor

Correlation between electroretinography, foveal anatomy and visual acuity in albinism.

Doc Ophthalmol 2019 Mar 29. Epub 2019 Mar 29.

University of Iowa Institute for Vision Research, University of Iowa, 200 Hawkins Drive, Iowa City, IA, 52242, USA.

Background: Albinism patients have poor visual acuity in addition to hypopigmentation. Their foveal anatomy is abnormal, but correlation with function is incompletely understood. This study correlates retinal electrophysiology, visual acuity and optical coherence tomography (OCT) anatomy in albinism patients and compares with age-similar controls. Read More

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http://dx.doi.org/10.1007/s10633-019-09692-9DOI Listing
March 2019
1 Read

Longitudinal adaptive optics fluorescence microscopy reveals cellular mosaicism in patients.

JCI Insight 2019 Mar 21;4(6). Epub 2019 Mar 21.

National Eye Institute, NIH, Bethesda, Maryland, USA.

The heterogeneity of individual cells in a tissue has been well characterized, largely using ex vivo approaches that do not permit longitudinal assessments of the same tissue over long periods of time. We demonstrate a potentially novel application of adaptive optics fluorescence microscopy to visualize and track the in situ mosaicism of retinal pigment epithelial (RPE) cells directly in the human eye. After a short, dynamic period during which RPE cells take up i. Read More

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http://dx.doi.org/10.1172/jci.insight.124904DOI Listing

A Rare Case of Foveal Hypoplasia With Dyschromatosis Universalis.

Ophthalmic Surg Lasers Imaging Retina 2019 Mar;50(3):192-195

Foveal hypopalsia (FH) is typically seen in association with diseases like albinism and aniridia, and familial FH (FFH) is very rare. The authors present a case of unique association of FH with dyschromatosis universalis hereditaria (DUH). Family members of this patient had history of nystagmus and dermal pigmentary anomalies, suggesting that this may represent FFH with DUH in X-linked pattern. Read More

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https://www.healio.com/doiresolver?doi=10.3928/23258160-2019
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http://dx.doi.org/10.3928/23258160-20190301-11DOI Listing
March 2019
4 Reads

A case report for severe hand-foot skin reaction caused by chemotherapy with actinomycin D in a patient with oculocutaneous albinism.

Onco Targets Ther 2019 8;12:1851-1855. Epub 2019 Mar 8.

Department of Obstetrics and Gynecology, The First Affiliated Hospital, Anhui Medical University, Hefei 230020, Anhui, P.R. China,

Gestational trophoblastic neoplasms (GTN) are highly curable tumors, with an overall patient survival of 90%, due to the individualized chemotherapy. However, chemotherapy regimens vary between different treatment centers and the comparable benefits and risks of these different regimens are unclear. Here, we reported a case of GTN with oculocutaneous albinism (OCA) is resistant to fluorouracil (5-FU), extremely sensitive to actinomycin D (Act-D) with severe hand-foot skin reaction (HFSR). Read More

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http://dx.doi.org/10.2147/OTT.S195635DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6415729PMC
March 2019
1.342 Impact Factor

Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations.

Ann Hum Genet 2019 Mar 13. Epub 2019 Mar 13.

Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I. Khan, Pakistan.

Oculocutaneous albinism (OCA) is an autosomal-recessive disorder of a defective melanin pathway. The condition is characterized by hypopigmentation of hair, dermis, and ocular tissue. Genetic studies have reported seven nonsyndromic OCA genes, among which Pakistani OCA families mostly segregate TYR and OCA2 gene mutations. Read More

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http://doi.wiley.com/10.1111/ahg.12307
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http://dx.doi.org/10.1111/ahg.12307DOI Listing
March 2019
7 Reads

Comparative transcriptome analysis reveals expression signatures of albino Russian sturgeon, Acipenseriformes gueldenstaedtii.

Mar Genomics 2019 Mar 6. Epub 2019 Mar 6.

Key Laboratory of Aquatic Genomics, Ministry of Agriculture and Rural Affairs, CAFS Key Laboratory of Aquatic Genomics, Chinese Academy of Fishery Sciences, Beijing, China; Hangzhou Qiandaohu Xunlong Sci-Tech Development Company Limited, Quzhou, China; Key Laboratory of Applied Marine Biotechnology (Ningbo University), Ministry of Education, Ningbo, China. Electronic address:

Albinism is a genetically inherited condition that is caused by a series of genetic abnormalities leading to a reduction in melanin production. Russian sturgeon is one of the most valuable freshwater fish species worldwide, and albino individuals have been found in fish farms. Due to its complicated genome and scarce genome-wide genetic resources, the underlying molecular basis of albinism in Russian sturgeon is unknown. Read More

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http://dx.doi.org/10.1016/j.margen.2019.02.004DOI Listing
March 2019
1 Read

Oral levodopa rescues retinal morphology and visual function in a murine model of human albinism.

Pigment Cell Melanoma Res 2019 Mar 9. Epub 2019 Mar 9.

Clinical and Experimental Sciences, Faculty of Medicine, Sir Henry Wellcome Laboratories, Southampton University Hospital, University of Southampton, Southampton, UK.

Albinism is a group of disorders characterized by pigment deficiency and abnormal retinal development. Despite being a common cause for visual impairment worldwide, there is a paucity of treatments and patients typically suffer lifelong visual disability. Residual plasticity of the developing retina in young children with albinism has been demonstrated, suggesting a post-natal window for therapeutic rescue. Read More

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http://dx.doi.org/10.1111/pcmr.12782DOI Listing
March 2019
1 Read

Modeling human point mutation diseases in Xenopus tropicalis with a modified CRISPR/Cas9 system.

FASEB J 2019 Mar 7:fj201802661R. Epub 2019 Mar 7.

Guangdong Provincial Key Laboratory of Cell Microenvironment and Disease Research and.

Precise single-base editing in Xenopus tropicalis would greatly expand the utility of this true diploid frog for modeling human genetic diseases caused by point mutations. Here, we report the efficient conversion of C-to-T or G-to-A in X. tropicalis using the rat apolipoprotein B mRNA editing enzyme catalytic subunit 1-XTEN-clustered regularly interspaced short palindromic repeat-associated protein 9 (Cas9) nickase-uracil DNA glycosylase inhibitor-nuclear localization sequence base editor [base editor 3 (BE3)]. Read More

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https://www.fasebj.org/doi/10.1096/fj.201802661R
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http://dx.doi.org/10.1096/fj.201802661RDOI Listing
March 2019
12 Reads

The BLOC-3 subunit HPS4 is required for activation of Rab32/38 GTPases in melanogenesis, but its Rab9 activity is dispensable for melanogenesis.

J Biol Chem 2019 Mar 5. Epub 2019 Mar 5.

Department of Integrative Life Sciences, Tohoku University, Graduate School of Life Sciences, Japan.

() is one of the genes whose mutations have been associated with Hermansky-Pudlak syndrome (HPS), characterized by ocular albinism and a susceptibility to bleeding because of defects in the biogenesis of lysosome-related organelles such as melanosomes. HPS4 protein forms a BLOC-3 complex with HPS1, another gene product, and the complex has been proposed to function as a guanine nucleotide exchange factor (GEF) for RAB32, a member of the Rab small GTPase family (Rab32), and Rab38 (Rab32/38-GEF) and also as a Rab9 effector. Although both Rab32/38 and Rab9 have previously been shown to be involved in melanogenesis in mammalian epidermal melanocytes, the functional relationships of these small GTPases with BLOC-3 remain unknown. Read More

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http://dx.doi.org/10.1074/jbc.RA119.007345DOI Listing
March 2019
1 Read

[Mutation analysis of two pedigrees with suspected oculocutaneous albinism].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Mar;36(3):212-216

Department of Ophthalmology Shanghai Children's Hospital, Children's Hospital of Shanghai Jiao Tong University, Shanghai, 200062, China.

Objective: To analyze the clinical presentation and gene of 2 pedigrees with suspected oculocutaneous albinism(OCA), and provide basis for clinical classification, genetic counseling and prenatal diagnosis.

Methods: Variants were identified using next-generation sequencing(NGS) and confirmed by Sanger sequencing in 2 pedigrees with suspected OCA. The pathogenicity of the variants was analyzed according to the American College of Medical Genetics and Genomics (ACMG) standard. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.03.005DOI Listing
March 2019
2 Reads

Crohn's-like acute severe colitis associated with Hermansky-Pudlak syndrome: A case report.

World J Gastroenterol 2019 Feb;25(8):1031-1036

Institut des Maladies de l'Appareil Digestif, Department of Gastroenterology and Digestive Oncology, Nantes University Hospital, Nantes Cedex 44093, France.

Background: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, platelet storage pool deficiency and systemic complications associated with ceroid deposition in the reticuloendothelial system. HPS types 1 and 4 are associated with Crohn's disease (CD)-like gastrointestinal disorders, such as granulomatous enterocolitis or perianal disease. Cases of colitis can be particularly severe and, before the use of anti-tumor necrosis factor alpha (TNFα) therapy had become common, were reported as showing poor responsiveness to medical treatment. Read More

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http://dx.doi.org/10.3748/wjg.v25.i8.1031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6397731PMC
February 2019
4 Reads

Conversations with Ray Guillery on albinism: linking Siamese cat visual pathway connectivity to mouse retinal development.

Eur J Neurosci 2019 Feb 23. Epub 2019 Feb 23.

Departments of Pathology and Cell Biology, Neuroscience, and Ophthalmology, Mortimer B. Zuckerman Mind Brain Behavior Institute, Columbia University, Jerome L. Greene Science Center, 3227 Broadway, Room L3-043, Quad 3C, New York, NY, 10027, USA.

In albinism of all species, perturbed melanin biosynthesis in the eye leads to foveal hypoplasia, retinal ganglion cell misrouting, and, consequently, altered binocular vision. Here, written before he died, Ray Guillery chronicles his discovery of the aberrant circuitry from eye to brain in the Siamese cat. Ray's characterization of visual pathway anomalies in this temperature sensitive mutation of tyrosinase and thus melanin synthesis in domestic cats opened the exploration of albinism and simultaneously, a genetic approach to the organization of neural circuitry. Read More

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http://dx.doi.org/10.1111/ejn.14396DOI Listing
February 2019
1 Read

A Case of Oculocutaneous Albinism in a Patient with Hashimoto's Thyroiditis.

Eur Thyroid J 2019 Jan 16;8(1):56-58. Epub 2018 Oct 16.

Department of Clinical and Experimental Medicine, Endocrinology Unit I, University of Pisa and University Hospital of Pisa, Pisa, Italy.

Background: Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive disorder characterized by reduced or absent melanin synthesis. Its prevalence is approximately one in 17,000 individuals worldwide. OCA causes a complete or partial absence of pigment in the skin, hair, and eyes. Read More

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http://dx.doi.org/10.1159/000493730DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6381916PMC
January 2019
6 Reads

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.

Orphanet J Rare Dis 2019 02 21;14(1):52. Epub 2019 Feb 21.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1851, Bethesda, MD, 20892-1851, USA.

Background: Determining the etiology of oculocutaneous albinism is important for proper clinical management and to determine prognosis. The purpose of this study was to genotype and phenotype eight adopted Chinese children who presented with oculocutaneous albinism and easy bruisability.

Results: The patients were evaluated at a single center; their ages ranged from 3 to 8 years. Read More

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1
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http://dx.doi.org/10.1186/s13023-019-1023-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6385472PMC
February 2019
3 Reads

Ocular albinism with bilateral ocular coloboma - A rare association.

Indian J Ophthalmol 2019 Mar;67(3):397-398

Retina and Vitreous Service, L V Prasad Eye Institute, Vijayawada, Andhra Pradesh, India.

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http://dx.doi.org/10.4103/ijo.IJO_1182_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407405PMC
March 2019
3 Reads

Inborn errors of metabolism in the 21 century: past to present.

Ann Transl Med 2018 Dec;6(24):467

Department of Pediatrics, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.

The 21 century is an exciting time to be in the field of metabolic medicine. As with many fields, one of the keys to anticipating the future is to understand the past. The term "inborn error of metabolism" was first coined in 1908 by Sir Archibald Garrod, in reference to four disorders (alkaptonuria, pentosuria, cystinuria and albinism). Read More

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http://dx.doi.org/10.21037/atm.2018.11.36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6331363PMC
December 2018

Accommodation and near visual function in children with albinism.

Acta Ophthalmol 2019 Jan 31. Epub 2019 Jan 31.

St. Erik Eye Hospital, Stockholm, Sweden.

Purpose: Albinism degrades visual function due to developmental disorders of the eye and visual pathways, larger refractive errors, absent binocularity and poor fixation control. Reading spectacles is commonly prescribed in our clinic and well tolerated. The purpose was to evaluate whether the accommodative response is typical or affected in comparison to a reference group. Read More

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http://dx.doi.org/10.1111/aos.14040DOI Listing
January 2019
1 Read

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1.

Sci Rep 2019 Jan 24;9(1):645. Epub 2019 Jan 24.

Department of Ophthalmology, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.

Oculocutaneous albinism (OCA) is a genetically heterogeneous disorder. Six genes are associated with autosomal recessive OCA (TYR, OCA2, TYRP1, SLC45A2, SLC24A5 and LRMDA), and one gene, GPR143, is associated with X-linked ocular albinism (OA). Molecular genetic analysis provides a genetic diagnosis in approximately 60% of individuals with clinical OA/OCA. Read More

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http://dx.doi.org/10.1038/s41598-018-37272-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6345944PMC
January 2019
1 Read

One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1B.

JCI Insight 2019 Jan 24;4(2). Epub 2019 Jan 24.

National Eye Institute and.

Background: Oculocutaneous albinism (OCA) results in reduced melanin synthesis, skin hypopigmentation, increased risk of UV-induced malignancy, and developmental eye abnormalities affecting vision. No treatments exist. We have shown that oral nitisinone increases ocular and fur pigmentation in a mouse model of one form of albinism, OCA-1B, due to hypomorphic mutations in the Tyrosinase gene. Read More

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http://insight.jci.org/articles/view/124387
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http://dx.doi.org/10.1172/jci.insight.124387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413781PMC
January 2019
15 Reads

Congenital neutropenia and primary immunodeficiency diseases.

Crit Rev Oncol Hematol 2019 Jan 13;133:149-162. Epub 2018 Oct 13.

Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran. Electronic address:

Neutropenia is a dangerous and potentially fatal condition that renders patients vulnerable to recurrent infections. Its severity is commensurate with the absolute count of neutrophil granulocytes in the circulation. In paediatric patients, neutropenia can have many different aetiologies. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10408428173049
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http://dx.doi.org/10.1016/j.critrevonc.2018.10.003DOI Listing
January 2019
12 Reads
4.027 Impact Factor

Bleeding assessment in female patients with the Hermansky-Pudlak syndrome-A case series.

Eur J Haematol 2019 May 6;102(5):432-436. Epub 2019 Mar 6.

Department of Surgery, School of Medicine, University of Puerto Rico, San Juan, Puerto Rico.

Introduction: The Hermansky-Pudlak syndrome (HPS) is an autosomal recessive rare disorder characterized by oculocutaneous albinism, bleeding diathesis, chronic granulomatous colitis and/or pulmonary fibrosis. HPS is the most common single-gene disorder in Puerto Rico with a prevalence of 1:1,800 in the Northwest of the island. Risk of menorrhagia and post-partum hemorrhage (PPH) in cases of women with HPS have been described in the medical literature, but data regarding comprehensive description of bleeding diathesis remains lacking. Read More

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http://dx.doi.org/10.1111/ejh.13210DOI Listing
May 2019
3 Reads

Dermoscopy of naevi in patients with oculocutaneous albinism.

Clin Exp Dermatol 2019 Jan 17. Epub 2019 Jan 17.

Dermatology Department, Hospital Universitario Professor Edgard Santos, Federal University of Bahia, Bahia, Brazil.

Oculocutaneous albinism (OCA) increases predisposition to skin malignancies. Nevertheless, the differential diagnosis between melanoma and naevi in patients with OCA is still challenging, because pigmentary lesions have rarely been described in this population. We aimed to describe the dermoscopic patterns of naevi in patients with OCA. Read More

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http://doi.wiley.com/10.1111/ced.13903
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http://dx.doi.org/10.1111/ced.13903DOI Listing
January 2019
13 Reads

The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.

Ophthalmology 2019 Jan 14. Epub 2019 Jan 14.

UCL Great Ormond Street Institute of Child Health, and NIHR Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London, London, United Kingdom. Electronic address:

Purpose: To develop a comprehensive next-generation sequencing panel assay that screens genes known to cause developmental eye disorders and inherited eye disease and to evaluate its diagnostic yield in a pediatric cohort with malformations of the globe, anterior segment anomalies, childhood glaucoma, or a combination thereof.

Design: Evaluation of diagnostic test.

Participants: Two hundred seventy-seven children, 0 to 16 years of age, diagnosed with nonsyndromic or syndromic developmental eye defects without a genetic diagnosis. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01616420183185
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http://dx.doi.org/10.1016/j.ophtha.2018.12.050DOI Listing
January 2019
17 Reads

[Advances in research of synergistic divergence].

Zhonghua Yan Ke Za Zhi 2019 Jan;55(1):63-67

Clinical College of Ophthalmology of Tianjin Medical University, Tianjin Eye Hospital and Institute, Tianjin Key Laboratory of Ophthalmology and Vision Science, Tianjin 300020, China.

Synergistic divergence is a rare condition characterized by complete absence of adduction that is associated with simultaneous abduction of the affected eye on attempted adduction. This causes the affected eye to move further into abduction on gaze to the normal side and results in extreme divergence of both eyes. It is sometimes referred to as exotropic Duane syndrome with synergistic divergence (type 4 Duane syndrome) or congenital fibrosis syndrome with synergistic divergence. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0412-4081.2019.01.015DOI Listing
January 2019
2 Reads

Foveal hypoplasia and optical coherence tomographic imaging.

Authors:
Hiroyuki Kondo

Taiwan J Ophthalmol 2018 Oct-Dec;8(4):181-188

Department of Ophthalmology, University of Occupational and Environmental Health, Kitakyushu, Japan.

Foveal hypoplasia is a retinal disorder in which there is a lack of full development of the morphology of the fovea. The optical coherence tomography (OCT) and functional findings are presented in relation to the underlying genetic and developmental conditions. Recent advancements of high-resolution OCT imaging have unveiled characteristics of foveal hypoplasia that were not detected by conventional imaging methods. Read More

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http://dx.doi.org/10.4103/tjo.tjo_101_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6302563PMC
January 2019
1 Read

Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report.

BMC Gastroenterol 2019 Jan 11;19(1). Epub 2019 Jan 11.

Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume, 830-0011, Japan.

Background: Hermansky-Pudlak syndrome (HPS) is a rare, genetically heterogeneous disorder that manifests oculocutaneous albinism together with bleeding diatheses that reflect a platelet storage pool deficiency. Ten genetic subtypes of this autosomal recessive condition have been described to date. Some patients with Hermansky-Pudlak syndrome type 1, 4, or 6 develop Crohn's-like inflammatory bowel disease at any age including early childhood, but most often in adolescence or young adulthood. Read More

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https://bmcgastroenterol.biomedcentral.com/articles/10.1186/
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http://dx.doi.org/10.1186/s12876-019-0929-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6329123PMC
January 2019
15 Reads

Changes in the biochemical parameters of albino, hyperhydric and normal green leaves of Caladium bicolor cv. "Bleeding hearts" in vitro long-term cultures.

Authors:
Tasiu Isah

J Photochem Photobiol B 2019 Feb 27;191:88-98. Epub 2018 Dec 27.

Department of Botany, School of Chemical and Life Sciences, Hamdard University, New Delhi 110 062, India. Electronic address:

Caladium bicolor is an excellent landscape and pot plant grown for its ornamental value due to the varied shapes and multi-colored foliage. However, the ornamental value of in vitro clonally propagated plants is affected by the occurrence of morpho-physiological anomalies in the long-term cultures. During the long-term culture of rhizome-derived shoot cultures of C. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10111344183116
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http://dx.doi.org/10.1016/j.jphotobiol.2018.12.017DOI Listing
February 2019
15 Reads
2.960 Impact Factor

Targeted disruption of tyrosinase causes melanin reduction in Carassius auratus cuvieri and its hybrid progeny.

Sci China Life Sci 2018 Dec 27. Epub 2018 Dec 27.

State Key Laboratory of Developmental Biology of Freshwater Fish, Hunan Normal University, Changsha, 410081, China.

The white crucian carp (Carassius auratus cuvieri, WCC) not only is one of the most economically important fish in Asia, characterized by strong reproductive ability and rapid growth rates, but also represents a good germplasm to produce hybrid progenies with heterosis. Gene knockout technique provides a safe and acceptant way for fish breeding. Achieving gene knockout in WCC and its hybrid progeny will be of great importance for both genetic studies and hybridization breeding. Read More

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http://dx.doi.org/10.1007/s11427-018-9404-7DOI Listing
December 2018
1 Read

Partial Rescue of Ocular Pigment Cells and Structure by Inducible Ectopic Expression of Mitf-M in MITF-Deficient Mice.

Invest Ophthalmol Vis Sci 2018 Dec;59(15):6067-6073

Laboratory of Cancer Biology and Genetics, National Cancer Institute, National Insitutes of Health, Bethesda, Maryland, United States.

Purpose: Complete deficiency of microphthalmia transcription factor (MITF) in Mitfmi-vga9/mi-vga9 mice is associated with microphthalmia, retinal dysplasia, and albinism. We investigated the ability of dopachrome tautomerase (DCT) promoter-mediated inducible ectopic expression of Mitf-M to rescue these phenotypic abnormalities.

Methods: A new mouse line was created with doxycycline-inducible ectopic Mitf-M expression on an Mitf-deficient Mitfmi-vga9 background (DMV mouse). Read More

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http://dx.doi.org/10.1167/iovs.18-25186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6314104PMC
December 2018
2 Reads

Reading speed of patients with infantile nystagmus for text in different orientations.

Vision Res 2019 02;155:17-23

College of Optometry, University of Houston, 4901 Calhoun Rd., Houston, TX 77204-2020, USA.

Two case studies in the literature report on patients with infantile nystagmus (IN) who preferred to read text that is oriented vertically rather than horizontally. The current study systematically evaluated the effect of text orientation (-60 to +90 deg with respect to horizontal) on reading speed in nine individuals with IN associated with albinism at Hadassah Academic College (HAC), seven individuals with IN at the University of Houston (UH), and a total of 17 normal control observers. Observers at HAC read 40-character passages of Hebrew text from standardized 2nd grade level reading material and observers at UH read MNRead acuity chart sentences. Read More

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http://dx.doi.org/10.1016/j.visres.2018.12.004DOI Listing
February 2019
1 Read

Immunoreactivity of a G protein-coupled l-DOPA receptor GPR143, in Lewy bodies.

Neurosci Res 2018 Dec 24. Epub 2018 Dec 24.

Laboratory of Neuropathology, Tokyo Metropolitan Institute of Medical Sciences, Tokyo 156-8506, Japan. Electronic address:

l-3,4-Dihydroxyphenylalanine (l-DOPA) has been believed to be an inert amino acid precursor of dopamine, and is the most effective therapeutic agent in Parkinson's disease (PD). We proposed l-DOPA as a neurotransmitter in the central nervous system. Recently, the ocular albinism 1 gene product, OA1/GPR143 (GPR143), was identified as a receptor for l-DOPA. Read More

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http://dx.doi.org/10.1016/j.neures.2018.12.004DOI Listing
December 2018

X-linked Ocular Albinism.

Adv Exp Med Biol 2018;1085:49-52

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

The prevalence of X-linked ocular albinism (XLOA) is about 1 in 60,000 males. It affects only the eyes; the color of the skin and hairs are normal. Patients usually present with reduced vision, photophobia, nystagmus, and strabismus. Read More

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http://dx.doi.org/10.1007/978-3-319-95046-4_11DOI Listing
January 2018
1 Read

Hypopigmented fundus in a young male.

Indian J Ophthalmol 2019 Jan;67(1)

Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

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http://www.ijo.in/text.asp?2019/67/1/7/248137
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http://dx.doi.org/10.4103/ijo.IJO_1834_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6324091PMC
January 2019
2 Reads

Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome.

Pediatr Dermatol 2019 Jan 18;36(1):72-84. Epub 2018 Dec 18.

University of Florida College of Medicine, Gainesville, Florida.

Melanocyte development is orchestrated by a complex interconnecting regulatory network of genes and synergistic interactions. Piebaldism and Waardenburg syndrome are neurocristopathies that arise from mutations in genes involved in this complex network. Our understanding of melanocyte development, Piebaldism, and Waardenburg syndrome has improved dramatically over the past decade. Read More

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http://dx.doi.org/10.1111/pde.13713DOI Listing
January 2019
1 Read

A case report: Co-occurrence of Wilson disease and oculocutaneous albinism in a Chinese patient.

Medicine (Baltimore) 2018 Dec;97(50):e13744

The Affiliated Hospital of the Neurology Institute of Anhui University of Chinese Medicine, Hefei, Anhui, China.

Rationale: Both Wilson disease (WD) and Oculocutaneous Albinism (OCA) are rare autosomal recessive disorders that are caused by mutations on chromosome 13 and chromosome 11, respectively. Here, we report on a patient with coexisting WD and OCA, initially presenting episodes of tremors.

Patient Concerns: WD is a disorder of copper metabolism. Read More

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http://dx.doi.org/10.1097/MD.0000000000013744DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320091PMC
December 2018
2 Reads

Identification of a novel mutation in X-linked ocular albinism with marked intrafamilial phenotypic variability.

J Genet 2018 12;97(5):1479-1484

Department of Ophthalmology, Seoul National University Hospital, Seoul, South Korea.

Ocular albinism type 1 (OA1) is an X-linked inherited disease characterized by impaired visual acuity, congenital nystagmus, foveal hypoplasia, hypopigmentation of iris and fundus. It is caused by mutations in the G protein-coupled receptor143 () gene. The genetic characteristics of OA1 have not been well defined in Asians. Read More

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December 2018
9 Reads

Electroretinograms in idiopathic infantile nystagmus, optic nerve hypoplasia and albinism.

Eur J Ophthalmol 2018 Dec 12:1120672118818322. Epub 2018 Dec 12.

Eye Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.

Purpose:: To study electroretinograms in infantile nystagmus syndrome associated with idiopathic infantile nystagmus, optic nerve hypoplasia, and albinism.

Methods:: A total of 30 children with idiopathic infantile nystagmus, 18 with optic nerve hypoplasia, and 18 with albinism were studied. Three electroretinogram protocols were applied according to child's age: 58 (mean: 2. Read More

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http://dx.doi.org/10.1177/1120672118818322DOI Listing
December 2018
2 Reads

Imaging retinal melanin: a review of current technologies.

J Biol Eng 2018 4;12:29. Epub 2018 Dec 4.

1Morgridge Institute for Research, Madison, WI USA.

The retinal pigment epithelium (RPE) is essential to the health of the retina and the proper functioning of the photoreceptors. The RPE is rich in melanosomes, which contain the pigment melanin. Changes in RPE pigmentation are seen with normal aging and in diseases such as albinism and age-related macular degeneration. Read More

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http://dx.doi.org/10.1186/s13036-018-0124-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6280494PMC
December 2018
1 Read

Multimodal imaging in a patient with Prader-Willi syndrome.

Int J Retina Vitreous 2018 30;4:45. Epub 2018 Nov 30.

Gavin Herbert Eye Institute, University of California Irvine, 850 Health Sciences Road, Irvine, CA 92697 USA.

Background: Prader-Willi syndrome (PWS) is a genetic disease caused by loss of expression of the paternally inherited copy of several genes on the long arm of chromosome 15. Ophthalmic manifestations of PWS include strabismus, amblyopia, nystagmus, hypopigmentation of the iris and choroid, diabetic retinopathy, cataract and congenital ectropion uvea. An overlap between PWS and oculocutaneous albinism (OCA) has long been recognized and attributed to deletion of OCA2 gene located in PWS critical region (PWCR). Read More

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https://journalretinavitreous.biomedcentral.com/articles/10.
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http://dx.doi.org/10.1186/s40942-018-0147-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6267888PMC
November 2018
15 Reads

Melanocyte Differentiation From Induced Pluripotent Stem Cells Derived From Human Adipose-Derived Stem Cells.

Ann Plast Surg 2019 Jan;82(1S Suppl 1):S119-S125

Division of Plastic and Reconstructive Surgery, Department of Surgery, Tri-Service General Hospital, National Defense Medical Center.

The pigment melanin is produced by melanocytes, is primarily responsible for skin color, and protects it against ultraviolet rays that can cause the destruction of genetic material within the keratinocytes. To elucidate the mechanisms of many diseases associated with melanocytes, such as melanoma and albinism, or burns with uneven pigment distribution, the disease model needs to be established first. In this study, we aimed to construct the melanocyte model from patients in a short period. Read More

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http://dx.doi.org/10.1097/SAP.0000000000001698DOI Listing
January 2019
3 Reads