Search our Database of Scientific Publications and Authors

I’m looking for a

    3980 results match your criteria Albinism

    1 OF 80

    Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.
    Pigment Cell Melanoma Res 2017 Jun 22. Epub 2017 Jun 22.
    Service Génétique Médicale, CHU de Bordeaux, Place Amélie Raba Léon, 33076, Bordeaux, France.
    Hermansky-Pudlak syndrome (HPS), first described in 1959, is a rare form of syndromic oculocutaneous albinism associated with bleeding diathesis and in some cases pulmonary fibrosis and granulomatous colitis. All 10 HPS types are caused by defects in vesicle trafficking of lysosomes-related organelles (LRO) proteins. The HPS5 protein associates with HPS3 and HPS6 to form the Biogenesis of Lysosome-related Organelles Complex-2 (BLOC-2). Read More

    Computational analysis of histidine mutations on the structural stability of human tyrosinases leading to albinism insurgence.
    Mol Biosyst 2017 Jun 22. Epub 2017 Jun 22.
    Department of Biological Sciences, College of Natural Sciences, Kongju National University, 56 Gongjudehak-Ro 56, Gongju, Chungnam 32588, Republic of Korea.
    Misfolding and structural alteration in proteins lead to serious malfunctions and cause various diseases in humans. Mutations at the active binding site in tyrosinase impair structural stability and cause lethal albinism by abolishing copper binding. To evaluate the histidine mutational effect, all mutated structures were built using homology modelling. Read More

    Identification of Novel G Protein-Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism.
    Invest Ophthalmol Vis Sci 2017 Jun;58(7):3118-3126
    Pharmaceutical Chemistry I, PharmaCenter Bonn, University of Bonn, Bonn, Germany.
    Purpose: GPR143 regulates melanosome biogenesis and organelle size in pigment cells. The mechanisms underlying receptor function remain unclear. G protein-coupled receptors (GPCRs) are excellent pharmacologic targets; thus, we developed and applied a screening approach to identify potential GPR143 ligands and chemical modulators. Read More

    Delineating the genetic heterogeneity of OCA in Hungarian patients.
    Eur J Med Res 2017 Jun 19;22(1):20. Epub 2017 Jun 19.
    MTA-SZTE Dermatological Research Group, University of Szeged, Szeged, Hungary.
    Background: Oculocutaneous albinism (OCA) is a clinically and genetically heterogenic group of pigmentation abnormalities characterized by variable hair, skin, and ocular hypopigmentation. Six known genes and a locus on human chromosome 4q24 have been implicated in the etiology of isolated OCA forms (OCA 1-7).

    Methods: The most frequent OCA types among Caucasians are OCA1, OCA2, and OCA4. Read More

    Isolation and Characterization of Isofraxidin 7-O-(6'-O-p-Coumaroyl)-β-glucopyranoside from Artemisia capillaris Thunberg: A Novel, Nontoxic Hyperpigmentation Agent That Is Effective In Vivo.
    Evid Based Complement Alternat Med 2017 24;2017:1401279. Epub 2017 May 24.
    New Drug Targets Laboratory, School of Life Sciences, Gwangju Institute of Science and Technology, Gwangju 500-712, Republic of Korea.
    Abnormalities in skin pigmentation can produce disorders such as albinism or melasma. There is a research need to discover novel compounds that safely and effectively regulate pigmentation. To identify novel modulators of pigmentation, we attempted to purify compounds from a bioactive fraction of the Korean medicinal plant Artemisia capillaris Thunberg. Read More

    IBT-based quantitative proteomics identifies potential regulatory proteins involved in pigmentation of purple sea cucumber, Apostichopus japonicus.
    Comp Biochem Physiol Part D Genomics Proteomics 2017 Jun 2;23:17-26. Epub 2017 Jun 2.
    CAS Key Laboratory of Marine Ecology and Environmental Sciences, Institute of Oceanology, Chinese Academy of Sciences, Qingdao 266071, China; Laboratory for Marine Ecology and Environmental Science, Qingdao National Laboratory for Marine Science and Technology, Qingdao 266071, China. Electronic address:
    Sea cucumbers are an important economic species and exhibit high yield value among aquaculture animals. Purple sea cucumbers are very rare and beautiful and have stable hereditary patterns. In this study, isobaric tags (IBT) were first used to reveal the molecular mechanism of pigmentation in the body wall of the purple sea cucumber. Read More

    A SERIES OF FIVE PATIENTS WITH FOVEAL HYPOPLASIA DEMONSTRATING GOOD VISUAL ACUITY.
    Retin Cases Brief Rep 2017 May 31. Epub 2017 May 31.
    *Department of Ophthalmology, Krieger Eye Institute, Sinai Hospital of Baltimore, Baltimore, Maryland; and †Department of Ophthalmology, Hoover Low Vision Rehabilitation Services, Greater Baltimore Medical Center, Baltimore, Maryland.
    Background/purpose: Foveal hypoplasia is associated with low vision in a variety of conditions. We report and show imaging studies for a series of five patients with foveal hypoplasia who had visual acuity ranging from 20/25 to 20/60.

    Methods: Observational case series. Read More

    Amelanotic melanoma in oculocutaneous albinism: a genetic, dermoscopic and reflectance confocal microscopy study.
    Br J Dermatol 2017 May 27. Epub 2017 May 27.
    Dermatology Department, Melanoma Unit, Hospital Clínic de Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain.
    Herein we describe the usefulness of a successful combination of dermoscopy and in vivo RCM for the early diagnosis of 3 AM in 2 OCA patients OCA is a group of rare autosomal recessive disorders of pigmentation. It consists in the absence or reduction of melanin in the skin, hair, and eyes due to a partial or total deficit in the activity of tyrosinase(TYR)(1) or other related genes(2,3) . Those patients are at higher risk of non melanoma skin cancer, while still debated is their increased risk of melanoma, in particular amelanotic(4) . Read More

    Structural modeling of a novel SLC38A8 mutation that causes foveal hypoplasia.
    Mol Genet Genomic Med 2017 May 26;5(3):202-209. Epub 2017 Feb 26.
    Omics LaboratoryUniversity of IowaIowa CityIowa.
    Background: Foveal hypoplasia (FH) in the absence of albinism, aniridia, microphthalmia, or achromatopsia is exceedingly rare, and the molecular basis for the disorder remains unknown. FH is characterized by the absence of both the retinal foveal pit and avascular zone, but with preserved retinal architecture. SLC38A8 encodes a sodium-coupled neutral amino acid transporter with a preference for glutamate as a substrate. Read More

    Genetic diseases associated with an increased risk of skin cancer development in childhood.
    Curr Opin Pediatr 2017 May 18. Epub 2017 May 18.
    aStanford University School of Medicine bDepartment of Dermatology cDepartment of Dermatology and Pediatrics dDivision of Pediatric Dermatology, Stanford University School of Medicine, USA.
    Purpose Of Review: Childhood skin cancers are relatively rare and may indicate an underlying genetic disorder. The increasing elucidation of genetic pathways is changing the diagnosis and management of genetic skin cancer susceptibility syndromes. In this review, we provide an overview of genetic conditions that predispose to skin cancer development in childhood and signs that providers should assess when evaluating affected individuals. Read More

    Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing.
    J Pak Med Assoc 2017 May;67(5):790-792
    Gomal Centre of Biochemistry and Biotechnology, Gomal University, Dera Ismail Khan, KPK, Pakistan.
    Oculocutaneous albinism (OCA) is a disorder of defective melanin biosynthesis that is characterized by hypo-pigmentation of skin, hair and retinal pigment epithelium. Phenotypically, OCA patients exhibit white milky skin, whitish to golden hair and deterioration of retinal cells. Until recently, genetic studies have reported seven causative genes (TYR, TYRP1, OCA2, SLC45A2, SLC24A2, C10ORF11 and MCIR) and an uncharacterized OCA5 locus. Read More

    Analysis of CFB, a cytokinin-responsive gene of Arabidopsis thaliana encoding a novel F-box protein regulating sterol biosynthesis.
    J Exp Bot 2017 May 12. Epub 2017 May 12.
    Institute of Biology/Applied Genetics, Dahlem Centre of Plant Sciences (DCPS), Freie Universität Berlin, Albrecht-Thaer-Weg 6, D-14195 Berlin, Germany.
    Protein degradation by the ubiquitin-26S proteasome pathway is important for the regulation of cellular processes, but the function of most F-box proteins relevant to substrate recognition is unknown. We describe the analysis of the gene Cytokinin-induced F-box encoding (CFB, AT3G44326), identified in a meta-analysis of cytokinin-related transcriptome studies as one of the most robust cytokinin response genes. F-box domain-dependent interaction with the E3 ubiquitin ligase complex component ASK1 classifies CFB as a functional F-box protein. Read More

    Quantitative Succinyl-Proteome Profiling of Camellia sinensis cv. 'Anji Baicha' During Periodic Albinism.
    Sci Rep 2017 May 12;7(1):1873. Epub 2017 May 12.
    Tea Research Institute of the Chinese Academy of Agricultural Sciences/Key Laboratory of Tea Biology and Resources Utilization, Ministry of Agriculture, 9 South Meiling Road, Hangzhou, 310008, China.
    Lysine succinylation is a novel dynamic and evolutionarily conserved post-translational modification (PTM) that regulates various biological processes. 'Anji Baicha' is an albino tea variety that exhibits temperature-based variability of leaf colour and amino acid concentrations. However, the mechanism underlying albinism in 'Anji Baicha' has not been investigated at the level of succinylation. Read More

    CRISPR/Cas9-mediated mutation of tyrosinase (Tyr) 3' UTR induce graying in rabbit.
    Sci Rep 2017 May 8;7(1):1569. Epub 2017 May 8.
    Jilin Provincial Key Laboratory of Animal Embryo Engineering, Jilin University, Changchun, 130062, China.
    The 3' untranslated regions (UTRs), located at the end of mRNA molecules, are believed to play a role in RNA replication and/or protein translation. Mutations in the tyrosinase (Tyr) gene are known to cause recessive albinism in humans and other species. In this study, to test whether the CRISPR/Cas9 system works on the mutation of the UTRs regulatory region in rabbit, the 3' UTR of the rabbit Tyr gene was deleted by a dual sgRNA directed CRISPR/Cas9 system. Read More

    A novel nonsense mutation in the tyrosinase gene is related to the albinism in a capuchin monkey (Sapajus apella).
    BMC Genet 2017 May 5;18(1):39. Epub 2017 May 5.
    Departamento de Psicologia Experimental, Instituto de Psicologia, Universidade de São Paulo, Av. Professor Mello Moraes 1721 Bloco A Sala D9 - Butantã, São Paulo, SP, Brazil, 05508-030.
    Background: Oculocutaneous Albinism (OCA) is an autosomal recessive inherited condition that affects the pigmentation of eyes, hair and skin. The OCA phenotype may be caused by mutations in the tyrosinase gene (TYR), which expresses the tyrosinase enzyme and has an important role in the synthesis of melanin pigment. The aim of this study was to identify the genetic mutation responsible for the albinism in a captive capuchin monkey, and to describe the TYR gene of normal phenotype individuals. Read More

    Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients.
    Front Immunol 2017 18;8:426. Epub 2017 Apr 18.
    Center for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden.
    Chediak-Higashi syndrome (CHS) is caused by autosomal recessive mutations in LYST, resulting in enlarged lysosomal compartments in multiple cell types. CHS patients display oculocutaneous albinism and may develop life-threatening hemophagocytic lymphohistiocytosis (HLH). While NK cell-mediated cytotoxicity has been reported to be uniformly defective, variable defects in T cell-mediated cytotoxicity has been observed. Read More

    Oral mass revealing Chédiak-Higashi syndrome.
    Int J Oral Maxillofac Surg 2017 Apr 26. Epub 2017 Apr 26.
    Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama, Japan.
    This case report describes common oral inflammatory findings leading to the identification of Chédiak-Higashi syndrome (CHS). A 15-year-old girl presented with an enlarging and painful mass on the upper lip. Two weeks after the initial visit, the mass showed further protrusion in the absence of fever. Read More

    Variants at the OCA2/HERC2 locus affect time to first cutaneous squamous cell carcinoma in solid organ transplant recipients collected using two different study designs.
    Br J Dermatol 2017 Apr 29. Epub 2017 Apr 29.
    Department of Internal Medicine, Division of Human Genetics, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
    Background: Variants at the Oculocutaneous albinism 2 (OCA2)/ HECT and RLD Domain Containing E3 Ubiquitin Protein Ligase 2 (HERC2) locus have been associated with pigmentation phenotypes as well as risk of developing multiple types of skin cancer.

    Objectives: The goal of this study was to evaluate OCA2/HERC2 locus variants for impact on time to develop cutaneous squamous cell carcinoma (cSCC) in organ transplant recipients (OTRs) who are at elevated risk of developing cSCC.

    Methods: Participants were solid organ transplant recipients ascertained from two centers (n=125 and 261) with an average of 13. Read More

    Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.
    Cell Biosci 2017 26;7:22. Epub 2017 Apr 26.
    DNA Diagnostic Laboratory, Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, 10 Center Drive, MSC 1860, Bethesda, 20892 Maryland USA.
    Background: Oculocutaneous albinism (OCA) is an autosomal recessive disorder. A significant portion of OCA patients has been found with a single pathogenic variant either in the TYR or the OCA2 gene. Diagnostic sequencing of the TYR and OCA2 genes is routinely used for molecular diagnosis of OCA subtypes. Read More

    Exogenous gene transfer of Rab(3)8 small GTPase ameliorates aberrant lung surfactant homeostasis in Ruby rats.
    Respir Res 2017 Apr 24;18(1):70. Epub 2017 Apr 24.
    Department of Respiratory Medicine, Kanazawa Medical University, 1-1 Uchinada-Daigaku, Kahokugun, Ishikawa, 920-0293, Japan.
    Background: Rab(3)8 small GTPase regulates intracellular transport in melanocytes and alveolar type II epithelial cells. Ruby rats carrying Rab(3)8 and other gene mutations exhibit oculocutaneous albinism, bleeding diathesis, and hence, are a rat model of human Hermansky-Pudlak syndrome (HPS). We previously showed that Long Evans Cinnamon (LEC) rats, one strain of the Ruby rats, developed aberrant lung surfactant homeostasis with remarkably enlarged lamellar bodies in alveolar type II cells. Read More

    What's new with common genetic skin disorders?
    Minerva Pediatr 2017 Aug 20;69(4):288-297. Epub 2017 Apr 20.
    Department of Dermatology, Rochester, MN, USA -
    Familiar genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis complex (TSC), oculocutaneous albinism (OCA), basal cell nevus syndrome (BCNS), incontinentia pigmenti, ichthyosis, and epidermolysis bullosa (EB) have prominent, cutaneous manifestations. This review describes recent advances in knowledge concerning the pathophysiology, diagnosis, and treatment of these skin features. Specifically, clinical diagnostic criteria for incontinentia pigmenti, ichthyosis, and tuberous sclerosis have been updated. Read More

    [Identification of a novel GPR143 mutation in a Chinese family affected with X-linked ocular albinism].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017 Apr;34(2):224-227
    Key Laboratory of Birth Defects and Related Diseases of Women and Children of Ministry of Education, West China Second Hospital, Sichuan University, Chengdu, Sichuan 610041, China.
    Objective: To detect mutation of GPR143 gene in a Chinese patient affected with ocular albinism.

    Methods: Peripheral blood samples were collected from the proband and his parents. The coding regions of the GPR143 gene were subjected to PCR amplification and Sanger sequencing. Read More

    Protective effect of geraniin against carbon tetrachloride induced acute hepatotoxicity in Swiss albino mice.
    Biochem Biophys Res Commun 2017 May 7;487(1):62-67. Epub 2017 Apr 7.
    Department of Zoology, Savitribai Phule Pune University, Pune 411007, India. Electronic address:
    Geraniin is a hydrolysable tannin, widely present in many plant species, specifically used in traditional medicines. It has been shown to exhibit strong antioxidant activity in vitro. This study was performed to investigate hepatoprotective activity of geraniin against carbon tetrachloride (CCl4) induced damage in Swiss albino mice. Read More

    Refractive error study in young subjects: results from a rural area in Paraguay.
    Int J Ophthalmol 2017 18;10(3):467-472. Epub 2017 Mar 18.
    Foundation for the Visual Quality (FUNCAVIS), Alicante 03016, Spain; Department of Optics, Pharmacology, and Anatomy, University of Alicante, Alicante 03690, Spain.
    Aim: To evaluate the distribution of refractive error in young subjects in a rural area of Paraguay in the context of an international cooperation campaign for the prevention of blindness.

    Methods: A sample of 1466 young subjects (ranging from 3 to 22 years old), with a mean age of 11.21±3. Read More

    An Automated Reference Frame Selection (ARFS) Algorithm for Cone Imaging with Adaptive Optics Scanning Light Ophthalmoscopy.
    Transl Vis Sci Technol 2017 Apr 3;6(2). Epub 2017 Apr 3.
    Department of Cell Biology, Neurobiology, & Anatomy, Medical College of Wisconsin, Milwaukee, WI, USA ; Department of Ophthalmology & Visual Sciences, Medical College of Wisconsin, Milwaukee, WI, USA.
    Purpose: To develop an automated reference frame selection (ARFS) algorithm to replace the subjective approach of manually selecting reference frames for processing adaptive optics scanning light ophthalmoscope (AOSLO) videos of cone photoreceptors.

    Methods: Relative distortion was measured within individual frames before conducting image-based motion tracking and sorting of frames into distinct spatial clusters. AOSLO images from nine healthy subjects were processed using ARFS and human-derived reference frames, then aligned to undistorted AO-flood images by nonlinear registration and the registration transformations were compared. Read More

    The Effect of Retinal Melanin on Optical Coherence Tomography Images.
    Transl Vis Sci Technol 2017 Apr 3;6(2). Epub 2017 Apr 3.
    Department of Cell Biology, Neurobiology, & Anatomy, Medical College of Wisconsin, Milwaukee, WI, USA ; Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, WI, USA ; Department of Biophysics, Medical College of Wisconsin, Milwaukee, WI, USA.
    Purpose: We assessed the effect of melanin on the appearance of hyperreflective outer retinal bands in optical coherence tomography (OCT) images.

    Methods: A total of 23 normal subjects and 51 patients with albinism were imaged using the Bioptigen high-resolution spectral-domain OCT. In addition, three wild type, three albino (slc45a2(b4/b4) ), and eight tyrosinase mosaic zebrafish were imaged with the hand-held Bioptigen Envisu R2200 OCT. Read More

    Pigmented and albino rats differ in their responses to moderate, acute and reversible intraocular pressure elevation.
    Doc Ophthalmol 2017 Jun 7;134(3):205-219. Epub 2017 Apr 7.
    School of Optometry and Vision Science, University of Waterloo, Waterloo, ON, N2L 3G1, Canada.
    Purpose: To compare the electrophysiological and morphological responses to acute, moderately elevated intraocular pressure (IOP) in Sprague-Dawley (SD), Long-Evans (LE) and Brown Norway (BN) rat eyes.

    Methods: Eleven-week-old SD (n = 5), LE (n = 5) and BN (n = 5) rats were used. Scotopic threshold responses (STRs), Maxwellian flash electroretinograms (ERGs) or ultrahigh-resolution optical coherence tomography (UHR-OCT) images of the rat retinas were collected from both eyes before, during and after IOP elevation of one eye. Read More

    MULTIMODAL IMAGING OF MOSAIC RETINOPATHY IN CARRIERS OF HEREDITARY X-LINKED RECESSIVE DISEASES.
    Retina 2017 Apr 3. Epub 2017 Apr 3.
    *Department of Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan; †Department of Orthopaedics and Traumatology, Taipei Veterans General Hospital, Taipei, Taiwan; ‡School of Medicine, National Yang-Ming University, Taipei, Taiwan; §Herbert Irving Comprehensive Cancer Center, Columbia University, New York, New York; and ¶College of Medicine, Chang Gung University, Taoyuan, Taiwan.
    Purpose: To investigate the clinical features in carriers of X-linked retinitis pigmentosa, X-linked ocular albinism, and choroideremia (CHM) using multimodal imaging and to assess their diagnostic value in these three mosaic retinopathies.

    Methods: We prospectively examined 14 carriers of 3 X-linked recessive disorders (X-linked retinitis pigmentosa, X-linked ocular albinism, and CHM). Details of abnormalities of retinal morphology were evaluated using fundus photography, fundus autofluorescence (FAF) imaging, and spectral domain optical coherence tomography. Read More

    A genome-wide association study reveals a locus for bilateral iridal hypopigmentation in Holstein Friesian cattle.
    BMC Genet 2017 Mar 29;18(1):30. Epub 2017 Mar 29.
    Institute of Veterinary Medicine, University of Goettingen, Burckhardtweg 2, 37077, Goettingen, Germany.
    Background: Eye pigmentation abnormalities in cattle are often related to albinism, Chediak-Higashi or Tietz like syndrome. However, mutations only affecting pigmentation of coat color and eye have also been described. Herein 18 Holstein Friesian cattle affected by bicolored and hypopigmented irises have been investigated. Read More

    GPR143 mutations in Chinese patients with ocular albinism type 1.
    Mol Med Rep 2017 May 23;15(5):3069-3075. Epub 2017 Mar 23.
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat‑sen University, Guangzhou, Guangdong 510060, P.R. China.
    The aim of the present study was to evaluate mutations of the G protein-coupled receptor 143 (GPR143) gene for ocular albinism type 1 (OA1) in Chinese patients. For the current study, 8 patients with OA1 were selected from the database of ocular genetic diseases. Genomic DNA of OA1 was prepared from venous leukocytes collected from the patients. Read More

    Dealing with the other between the ethical and the moral: albinism on the African continent.
    Theor Med Bioeth 2017 Apr;38(2):163-177
    Ambrose Alli University, P.M.B. 14, Ekpoma, Edo State, Nigeria.
    Albinism is a global public health issue but it assumes a peculiar nature in the African continent due, in part, to the social stigma faced by persons with albinism (PWAs) in Africa. I argue that there are two essential reasons for this precarious situation. First, in the African consciousness, albinism is an alterity or otherness. Read More

    Identification of two novel mutations in the SLC45A2 gene in a Hungarian pedigree affected by unusual OCA type 4.
    BMC Med Genet 2017 Mar 15;18(1):27. Epub 2017 Mar 15.
    Department of Medical Genetics, University of Szeged, 6 Somogyi Bela Street, 6720, Szeged, Hungary.
    Background: Oculocutaneous albinism (OCA) is a clinically and genetically heterogenic group of pigmentation abnormalities. OCA type IV (OCA4, OMIM 606574) develops due to homozygous or compound heterozygous mutations in the solute carrier family 45, member 2 (SLC45A2) gene. This gene encodes a membrane-associated transport protein, which regulates tyrosinase activity and, thus, melanin content by changing melanosomal pH and disrupting the incorporation of copper into tyrosinase. Read More

    Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.
    PLoS One 2017 15;12(3):e0173682. Epub 2017 Mar 15.
    NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, United States of America.
    Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of genetic disorders typically manifesting with tyrosinase-positive oculocutaneous albinism, bleeding diathesis, and pulmonary fibrosis, in some subtypes. Most HPS subtypes are associated with defects in Biogenesis of Lysosome-related Organelle Complexes (BLOCs), which are groups of proteins that function together in the formation and/or trafficking of lysosomal-related endosomal compartments. BLOC-2, for example, consists of the proteins HPS3, HPS5, and HPS6. Read More

    [Piebaldism: a pigmentary anomaly to recognize: about a case and review of the literature].
    Pan Afr Med J 2016 14;25:155. Epub 2016 Nov 14.
    Service des Urgences Médicales Pédiatriques, Hôpital d'Enfants Rabat, Faculté de Médecine et de Pharmacie, Université Mohammed V, Rabat, Maroc.
    Piebaldism is a rare autosomal dominant disorder characterized by an abnormal congenital skin pigmentation causing hypopigmented areas. It is due to an abnormal melanocytes development. It usually affects only the skin, but it may be associated with other anomalies or confused with other differential diagnoses. Read More

    A deletion in the Hermansky-Pudlak syndrome 4 (Hps4) gene appears to be responsible for albinism in channel catfish.
    Mol Genet Genomics 2017 Jun 13;292(3):663-670. Epub 2017 Mar 13.
    Aquatic Genomics Unit, Fish Molecular Genetics and Biotechnology Laboratory, School of Fisheries, Aquaculture and Aquatic Sciences, Auburn University, Auburn, AL, 36849, USA.
    Albinism is caused by a series of genetic abnormalities leading to reduction of melanin production. Albinism is quite frequent in catfish, but the causative gene and the molecular basis were unknown. In this study, we conducted a genome-wide association study (GWAS) using the 250 K SNP array. Read More

    Novel mutation in two brothers with Hermansky Pudlak syndrome type 3.
    Blood Cells Mol Dis 2017 Mar 6. Epub 2017 Mar 6.
    Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address:
    Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder causing oculocutaneous albinism, bleeding disorder and ceroid lipofuscinosis. Platelets from HPS patients are characterized by impaired secretion of dense (δ)-bodies (CD63). Meanwhile, there are ten known human HPS genes, each leading to a particular clinical HPS subtype (HPS1-HPS10). Read More

    Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.
    Sci Rep 2017 Mar 7;7:44185. Epub 2017 Mar 7.
    Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.
    Nonsyndromic oculocutaneous Albinism (nsOCA) is clinically characterized by the loss of pigmentation in the skin, hair, and iris. OCA is amongst the most common causes of vision impairment in children. To date, pathogenic variants in six genes have been identified in individuals with nsOCA. Read More

    Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.
    Mol Genet Metab 2017 Apr 27;120(4):378-383. Epub 2017 Feb 27.
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA.
    Purpose: Hermansky-Pudlak syndrome (HPS) is a rare inherited disorder with ten reported genetic types; each type has defects in subunits of either Adaptor Protein-3 complex or Biogenesis of Lysosome-related Organelles Complex (BLOC)-1, -2, or -3. Very few patients with BLOC-1 deficiency (HPS-7, -8, and -9 types) have been diagnosed. We report results of comprehensive clinical testing and molecular analyses of primary fibroblasts from a new case of HPS-7. Read More

    Retinal imaging with smartphone.
    Niger J Clin Pract 2017 Mar;20(3):341-345
    Department of Ophthalmology, University of Ilorin and University of Ilorin Teaching Hospital, Ilorin, Kwara State, Nigeria.
    Background: The use of smartphones for various purposes among health professionals is increasing, especially with the availability of different applications. On account of cost, fundus cameras are not readily available in ophthalmic practice in developing countries. Since smartphones are readily available, easy to use and portable, they may present a cheap alternative in a resource-limited economy. Read More

    Proposal for management and dermoscopy follow-up of nevi in patients affected by oculocutaneous albinism type Ia.
    Dermatol Pract Concept 2017 Jan 31;7(1):39-42. Epub 2017 Jan 31.
    Dermatology Department, School of Medicine, Instituto de Investigaciones Médicas "A. Lanari", University of Buenos Aires, Argentina.
    Albino patients are at great risk for developing cutaneous neoplasms, including melanomas. In this paper we describe the dermatoscopic findings of nevi in two patients with oculocutaneous albinism type Ia (OCA-Ia) highlighting that they manifest a vascular pattern similar to that described for amelanotic melanoma. We propose managing these patients with dermoscopy, using the comparative approach, digital follow up (DFU), and reflectance confocal microscopy as a complementary tool for difficult cases. Read More

    DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM.
    Retina 2017 Feb 23. Epub 2017 Feb 23.
    *University College London Institute of Ophthalmology, University College London, London, United Kingdom; †Medical Retina Service, Moorfields Eye Hospital, London, United Kingdom; ‡Section of Ophthalmology & Neuroscience, Leeds Institute of Biomedical & Clinical Sciences, St James' University Hospital, Leeds, United Kingdom; §NIHR BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom; ¶Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge, United Kingdom; **Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom; and ††Department of Ophthalmology, University of California San Francisco Medical School, San Francisco, California.
    Background: Albinism refers to a group of disorders primarily characterized by hypopigmentation. Affected individuals usually manifest both ocular and cutaneous features of the disease, but occasionally hair and skin pigmentation may appear normal. This is the case in ocular albinism, an X chromosome linked disorder resulting from mutation of GPR143. Read More

    [Preimplantation genetic diagnosis and monogenic inherited eye diseases].
    Cesk Slov Oftalmol Fall 2016;72(5):167-171
    Objective: Preimplantation genetic diagnosis (PGD) is an established application of genetic testing in the context of in vitro fertilization. PGD is an alternative method to prenatal diagnosis which aims to prevent the transmission of an inherited disorder to the progeny by implanting only embryos that do not carry genetic predisposition for a particular disease. The aim of this study is to provide an overview of eye disorders for which PGD has been carried out. Read More

    Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism.
    Sci Rep 2017 Feb 17;7:33713. Epub 2017 Feb 17.
    Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
    X-linked ocular albinism (OA1) is an X-linked inherited disease characterized by hypopigmentation of the fundus and nystagmus. Our study performed mutation analysis of the G protein-coupled receptor 143 gene (GPR143) and assessed the clinical characteristics of OA1 in three Chinese families. Three novel mutations, c. Read More

    The effects of topical carbonic anhydrase inhibitor in treatment of nystagmus.
    Int Ophthalmol 2017 Feb 15. Epub 2017 Feb 15.
    Beyoglu Eye Training and Research Hospital, Bereketzade Cami Sokak No:2 Beyoglu, Istanbul, Turkey.
    Objective: To evaluate the effects of topical carbonic anhydrase inhibitor (CAI), brinzolamide (Azopt), for treatment of nystagmus patients.

    Materials And Methods: Patients who used Brinzolamide for treatment of nystagmus were retrospectively analyzed. 23 patients were included in this study. Read More

    A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4.
    Invest Ophthalmol Vis Sci 2017 Feb;58(2):1008-1016
    Department of Ophthalmology, Oita University Faculty of Medicine, Oita, Japan.
    Purpose: We report the clinical characteristics of a Japanese family with autosomal dominant oculocutaneous albinism and a SLC45A2 gene mutation.

    Methods: A total of 16 members of a Japanese family with general hypopigmentation and foveal hypoplasia underwent detailed clinical examinations. We evaluated the severity of foveal hypoplasia using spectral-domain optical coherence tomography (SD-OCT) and graded it according to the criteria of Thomas et al. Read More

    [Diagnosis of a case with oculocutaneous albinism type Ⅲ with next generation exome capture sequencing].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017 Feb;34(1):73-77
    Jinan Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
    Objective: To explore the clinical and genetic features of a Chinese boy with oculocutaneous albinism.

    Methods: The clinical features of the patient were analyzed. The DNA of the patient and his parents was extracted and sequenced by next generation exome capture sequencing. Read More

    The clinical evaluation of infantile nystagmus: What to do first and why.
    Ophthalmic Genet 2017 Jan-Feb;38(1):22-33
    a Department of Ophthalmology and Visual Sciences, Wynn Institute for Vision Research , Roy J. and Lucille A. Carver College of Medicine, University of Iowa , Iowa City , Iowa , USA.
    Introduction: Infantile nystagmus has many causes, some life threatening. We determined the most common diagnoses in order to develop a testing algorithm.

    Methods: Retrospective chart review. Read More

    Cellular and ultrastructural characterization of the grey-morph phenotype in southern right whales (Eubalaena australis).
    PLoS One 2017 7;12(2):e0171449. Epub 2017 Feb 7.
    Huntsman Cancer Institute, Salt Lake City, Utah, United States of America.
    Southern right whales (SRWs, Eubalena australis) are polymorphic for an X-linked pigmentation pattern known as grey morphism. Most SRWs have completely black skin with white patches on their bellies and occasionally on their backs; these patches remain white as the whale ages. Grey morphs (previously referred to as partial albinos) appear mostly white at birth, with a splattering of rounded black marks; but as the whales age, the white skin gradually changes to a brownish grey color. Read More

    1 OF 80