An Australian family with macular dystrophy linked to autosomal recessive alopecia universalis
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چکیده
منابع مشابه
A Korean Family with an Early-Onset Autosomal Dominant Macular Dystrophy Resembling North Carolina Macular Dystrophy
PURPOSE To characterize and report the phenotype of a Korean family with an early-onset autosomal dominant macular dystrophy resembling North Carolina macular dystrophy (NCMD). METHODS Five members of a Korean family were examined clinically and underwent fundus photography, fluorescein angiography, indocyanine green angiography, optical coherence tomography, full field electroretinogram (ERG...
متن کاملA CDH3 Mutation is Segregated in an Iranian Family with Congenital Hypotrichosis and Juvenile Macular Dystrophy
Backgrounds Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare genetic disorder caused from mutations in the Cadherin 3 (CDH3) gene. Results In the present study, we reported an Iranian family with three affected members born to a consanguineous parent. Mutational analysis using whole exome sequencing has revealed a nucleotide change in CDH3 gene (NM_001793:exon8:c.830delG) which l...
متن کاملAn autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta.
T he cone2rod dystrophies (CORDs) are a clinically and genetically heterogeneous group of progressive retinal disorders. They have similarities to the rod2cone or retinitis pigmentosa-type dystrophies, but can usually be distinguished on the basis of clinical findings and electrophysiology. The CORDs usually present with cone dysfunction related symptoms, including photophobia, poor colour visi...
متن کاملSLC7A14 linked to autosomal recessive retinitis pigmentosa
Retinitis pigmentosa (RP) is characterized by degeneration of the retinal photoreceptors and is the leading cause of inherited blindness worldwide. Although few genes are known to cause autosomal recessive RP (arRP), a large proportion of disease-causing genes remain to be revealed. Here we report the identification of SLC7A14, a potential cationic transporter, as a novel gene linked to arRP. U...
متن کاملAutosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications.
OBJECTIVES To report a child with early-onset autosomal recessive Best vitelliform macular dystrophy and compound heterozygous BEST1 mutations, the management of a choroidal neovascular membrane with intravitreal bevacizumab in the proband, the benefits of amblyopia therapy in the fellow eye, and the findings in the parents, carriers of heterozygous BEST1 mutations. METHODS A 5-year-old white...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 2001
ISSN: 0007-1161
DOI: 10.1136/bjo.85.2.238a