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    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 Apr 20. 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

    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

    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 Mar 23. 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 Mar 13. 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

    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 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

    Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome.
    Sci Rep 2017 Feb 1;7:41308. Epub 2017 Feb 1.
    Department of Dermatology, Beijing Children's Hospital, Capital Medical University, Beijing, China.
    Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease characterized by varying degrees of oculocutaneous albinism, recurrent infections, and a mild bleeding tendency, with late neurologic dysfunction. This syndrome is molecularly characterized by pathognomonic mutations in the LYST (lysosomal trafficking regulator). Using whole genome sequencing (WGS) we attempted to identify novel mutations of CHS based on a family of CHS with atypical symptoms. Read More

    Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism.
    Doc Ophthalmol 2017 Apr 31;134(2):135-140. Epub 2017 Jan 31.
    Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave., Boston, MA, 02115-5737, USA.
    Purpose: We report for the first time electroretinographic (ERG) evidence of progressive retinal abnormalities in a girl who presented in infancy with ocular features of albinism and gradually developed choroidal sclerosis and patchy retinal atrophy leading to a diagnosis of Knobloch syndrome (KS, OMIM 267750, COL18A1).

    Methods: At age 2 months, nystagmus and esotropia prompted ophthalmic evaluation. The appearance of choroidal sclerosis and atrophic retinal patches led to further evaluation at age 8 years. Read More

    Two Complex Cases of Hermansky-Pudlak Syndrome Highlight a Potential Biologic Explanation for an Associated Crohn's Disease Phenotype.
    ACG Case Rep J 2017 18;4:e14. Epub 2017 Jan 18.
    Inflammatory Bowel Disease Center, University of Chicago Medicine, Chicago, IL.
    Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a lack of dense granules in platelets. HPS types 1 and 4 are associated with a granulomatous enterocolitis that is phenotypically indistinguishable from Crohn's disease. We present two cases of HPS-associated Crohn's disease phenotype in which the patients were refractory to standard medical management. Read More

    Identification and Characterization of a Plastidic Adenine Nucleotide Uniporter (OsBT1-3) Required for Chloroplast Development in the Early Leaf Stage of Rice.
    Sci Rep 2017 Jan 30;7:41355. Epub 2017 Jan 30.
    State Key Laboratory of Hybrid Rice, Key Laboratory for Research and Utilization of Heterosis in Indica Rice, Ministry of Agriculture, the Yangtze River Valley Hybrid Rice Collaboration Innovation Center, College of Life Sciences, Wuhan University, Wuhan 430072, R. P. China.
    Chloroplast development is an important subject in botany. In this study, a rice (Oryza sativa) mutant exhibiting impairment in early chloroplast development (seedling leaf albino (sla)) was isolated from a filial generation via hybridization breeding. The sla mutant seedlings have an aberrant form of chloroplasts, which resulted in albinism at the first and second leaves; however, the leaf sheath was green. Read More

    Two types of albino mutants in desert and migratory locusts are caused by gene defects in the same signaling pathway.
    Gene 2017 Apr 21;608:41-48. Epub 2017 Jan 21.
    National Agriculture and Food Research Organization, Institute of Agrobiological Sciences, 1-2 Ohwashi, Tsukuba, Ibaraki 305-8634, Japan.
    Albinism is caused by mutations in the genes involved in melanin production. Albino nymphs of Locusta migratoria and Schistocerca gregaria reared under crowded conditions are uniformly creamy-white in color. However, nothing is known about the molecular mechanisms underlying this phenomenon in locusts. Read More

    Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1.
    Mol Med Rep 2017 Mar 23;15(3):1426-1430. Epub 2017 Jan 23.
    Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, Hunan 410013, P.R. China.
    Oculocutaneous albinism (OCA) is a group of heterogeneous and autosomal recessive disorders characterized by a reduction or complete loss of melanin biosynthesis in melanocytes. OCA type 1 (OCA1) is the most severe and common form of OCA, and is caused by mutations in the tyrosinase gene (TYR). The present study aimed to identify the genetic cause of OCA1 in a four‑generation consanguineous Chinese Han family. Read More

    Identification of nuclear genes controlling chlorophyll synthesis in barley by RNA-seq.
    BMC Plant Biol 2016 Nov 16;16(Suppl 3):245. Epub 2016 Nov 16.
    Institute of Cytology and Genetics SB RAS, Novosibirsk, Russia.
    Background: Albinism in plants is characterized by lack of chlorophyll and results in photosynthesis impairment, abnormal plant development and premature death. These abnormalities are frequently encountered in interspecific crosses and tissue culture experiments. Analysis of albino mutant phenotypes with full or partial chlorophyll deficiency can shed light on genetic determinants and molecular mechanisms of albinism. Read More

    Blood serum retinol levels in Asinara white donkeys reflect albinism-induced metabolic adaptation to photoperiod at Mediterranean latitudes.
    Ecol Evol 2017 Jan 20;7(1):390-398. Epub 2016 Dec 20.
    Department of Agricultural Sciences University of Sassari Sassari Italy.
    Previous works on albinism form of Asinara white donkeys (Equus asinus) identified the mutation leading to the peculiar phenotype spread to all specimens of the breed. Inbreeding naturally occurred under geographic isolation, on Asinara Island, in the Mediterranean Sea. Albino individuals can be more susceptible to develop health problems when exposed to natural sun radiation. Read More

    The relationship of nystagmus waveform on the VEP response in infantile nystagmus syndrome: a small case series.
    Doc Ophthalmol 2017 Feb 5;134(1):37-44. Epub 2017 Jan 5.
    Division of Ophthalmology, Roger H. Johnson Vision Lab, Seattle Children's Hospital, OA.5.345, 4800 Sand Point Way NE, W-4753, Seattle, WA, 98105, USA.
    Purpose: The relationship between eye movements and the visual evoked potential (VEP) response was examined in two subjects with infantile nystagmus syndrome (INS). Changes in VEP amplitude were compared between periods of foveation versus periods of high-frequency nystagmus. An analysis is proposed that improves extraction of the checkerboard reversal VEP signal from subjects with INS. Read More

    Generation of human embryonic stem cells from abnormal blastocyst diagnosed with albinism.
    Stem Cell Res 2016 Nov 10;17(3):643-645. Epub 2016 Nov 10.
    Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China; National Engineering and Research Center of Human Stem Cell, Changsha, China; Key Laboratory of Stem Cells and Reproductive Engineering, Ministry of Health, Changsha, China. Electronic address:
    Human embryonic stem cell (hESC) line chHES-478 was derived from abnormal blastocyst diagnosed with albinism after preimplantation genetic diagnosis (PGD) treatment. DNA sequencing analysis confirmed that chHES-478 cell line carried a compound heterozygous mutation, c.896G>A(p. Read More

    Advances in clinical immunology in 2015.
    J Allergy Clin Immunol 2016 Dec;138(6):1531-1540
    Immunology, Allergy and Rheumatology Section, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, Tex.
    Advances in clinical immunology in the past year included the report of practice parameters for the diagnosis and management of primary immunodeficiencies to guide the clinician in the approach to these relatively uncommon disorders. We have learned of new gene defects causing immunodeficiency and of new phenotypes expanding the spectrum of conditions caused by genetic mutations such as a specific regulator of telomere elongation (RTEL1) mutation causing isolated natural killer cell deficiency and mutations in ras-associated RAB (RAB27) resulting in immunodeficiency without albinism. Advances in diagnosis included the increasing use of whole-exome sequencing to identify gene defects and the measurement of serum free light chains to identify secondary hypogammaglobulinemias. Read More

    A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome.
    Pediatr Blood Cancer 2017 May 4;64(5). Epub 2016 Dec 4.
    Institute of Experimental Biomedicine I, University Hospital Würzburg, Germany.
    Background: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease characterized by oculocutaneous albinism and platelet dysfunction. We report on a novel HPS6 homozygous frameshift variant (c.1919_1920delTC; p. Read More

    Amelanotic naevoid melanoma in a 16-month-old albino infant.
    Clin Exp Dermatol 2017 Jan 2;42(1):84-88. Epub 2016 Dec 2.
    Department of Dermatology, Hospital Fundación Jiménez Diaz, Madrid, Spain.
    Melanoma in individuals with oculocutaneous albinism has been reported in the literature to be rare compared with the more common occurrence of squamous cell carcinoma and basal cell carcinoma. We present a singular case of amelanotic naevoid melanoma arising from a small congenital naevus in a 16-month old albino boy, the youngest reported to date. Read More

    Retinal axon guidance at the midline: Chiasmatic misrouting and consequences.
    Dev Neurobiol 2016 Dec 1. Epub 2016 Dec 1.
    Institut National de la Santé et de la Recherche Médicale, UMR-S 839, Paris, 75005, France.
    The visual representation of the outside world relies on the appropriate connectivity between the eyes and the brain. Retinal ganglion cells are the sole neurons that send an axon from the retina to the brain, and thus the guidance decisions of retinal axons en route to their targets in the brain shape the neural circuitry that forms the basis of vision. Here, we focus on the choice made by retinal axons to cross or avoid the midline at the optic chiasm. Read More

    Optical coherence tomography angiography of foveal hypoplasia.
    Br J Ophthalmol 2016 Nov 29. Epub 2016 Nov 29.
    Department of Medical Retina, Moorfields Eye Hospital NHS Foundation Trust, London, UK.
    Aims: To discuss foveal development in the context of detailed retinal vasculature imaging in foveal hypoplasia using optical coherence tomography angiography.

    Methods: In this case series, the optical coherence tomography angiography results of four patients with idiopathic foveal hypoplasia and two patients with foveal hypoplasia secondary to oculocutaneous albinism are presented.

    Results: Cases with intact visual acuity demonstrated lower grades of foveal hypoplasia on optical coherence tomography, while those with poor vision demonstrated high grades of foveal hypoplasia. Read More

    Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.
    Am J Hum Genet 2016 Dec 23;99(6):1388-1394. Epub 2016 Nov 23.
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, MD 20892, USA; Children's National Medical Center, Washington, DC 20010, USA. Electronic address:
    Human MITF is, by convention, called the "microphthalmia-associated transcription factor" because of previously published seminal mouse genetic studies; however, mutations in MITF have never been associated with microphthalmia in humans. Here, we describe a syndrome that we term COMMAD, characterized by coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness. COMMAD is associated with biallelic MITF mutant alleles and hence suggests a role for MITF in regulating processes such as optic-fissure closure and bone development or homeostasis, which go beyond what is usually seen in individuals carrying monoallelic MITF mutations. Read More

    Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
    Am J Hum Genet 2016 Dec 23;99(6):1368-1376. Epub 2016 Nov 23.
    Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France; INSERM 1141, Service de Neurologie Pédiatrique, Hôpital Robert Debré, 75019 Paris, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France. Electronic address:
    Early-onset epileptic encephalopathy (EOEE) represents a heterogeneous group of severe disorders characterized by seizures, interictal epileptiform activity with a disorganized electroencephalography background, developmental regression or retardation, and onset before 1 year of age. Among a cohort of 57 individuals with epileptic encephalopathy, we ascertained two unrelated affected individuals with EOEE associated with developmental impairment and autosomal-recessive variants in AP3B2 by means of whole-exome sequencing. The targeted sequencing of AP3B2 in 86 unrelated individuals with EOEE led to the identification of an additional family. Read More

    Evaluating outer segment length as a surrogate measure of peak foveal cone density.
    Vision Res 2017 Jan 2;130:57-66. Epub 2016 Dec 2.
    Department of Cell Biology, Neurobiology & Anatomy, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA; Department of Ophthalmology, Medical College of Wisconsin, 925 N. 87th Street, Milwaukee, WI 53226, USA; Department of Biomedical Engineering, Marquette University, 1250 W Wisconsin Avenue, Milwaukee, WI 53233, USA; Department of Biophysics, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA. Electronic address:
    Adaptive optics (AO) imaging tools enable direct visualization of the cone photoreceptor mosaic, which facilitates quantitative measurements such as cone density. However, in many individuals, low image quality or excessive eye movements precludes making such measures. As foveal cone specialization is associated with both increased density and outer segment (OS) elongation, we sought to examine whether OS length could be used as a surrogate measure of foveal cone density. Read More

    Management of Hermansky-Pudlak syndrome in pregnancy and review of literature.
    BMJ Case Rep 2016 Nov 17;2016. Epub 2016 Nov 17.
    Department of Obstetrics, UZA, Edegem, Belgium.
    We report on the obstetric outcome of a woman aged 27 years with Hermansky-Pudlak syndrome (HPS). She underwent a caesarean section after failed induction of labour. Platelet transfusion was administered in a set schedule for 36 hours, starting 2 hours before delivery. Read More

    Storage pool diseases illuminate platelet dense granule biogenesis.
    Platelets 2017 Mar 16;28(2):138-146. Epub 2016 Nov 16.
    a Department of Biochemistry and Molecular Biology , Colorado State University , Fort Collins , Colorado , USA.
    Platelet dense granules (DGs) are membrane bound compartments that store polyphosphate and small molecules such as ADP, ATP, Ca(2+), and serotonin. The release of DG contents plays a central role in platelet aggregation to form a hemostatic plug. Accordingly, congenital deficiencies in the biogenesis of platelet DGs underlie human genetic disorders that cause storage pool disease and manifest with prolonged bleeding. Read More

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