Phenotypic Variation in a Family With Pseudodominant Stargardt Disease
نویسندگان
چکیده
منابع مشابه
A family with pseudodominant Friedreich's ataxia showing marked variation of phenotype between affected siblings.
A family with pseudodominant Friedreich's ataxia is described showing marked variation of phenotype between affected siblings. The mother of this family (III-3) developed a spastic ataxic tetraplegia with neuropathy at 34 years of age; her husband, who was unrelated, was clinically normal. Of their nine children, two (IV-2, IV-3), including one with multiple sclerosis (IV-3), developed a mild s...
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Retinoblastoma is the most common primary ocular malignancy of young children, with an incidence of 1:17000 to 1:34000 new births. Retinoblastoma is bilateral in about 30% of cases. Although new modalities offer an enhanced chance of eye salvage, in bilateral disease, management often leads to enucleation of the more-involved eye, with more conservative treatment of the better eye. Subsequently...
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Stargardt disease is the most common cause of juvenile macular dystrophy. Five subjects from a two-generation Chinese family with Stargardt disease are reported in this study. All family members underwent complete ophthalmologic examinations. Patients of the family initiated the disease during childhood, developing progressively impaired central vision and bilateral atrophic macular lesions in ...
متن کاملQuantifying fixation in patients with Stargardt disease
Fixational eye movements in 60 eyes of 30 patients with ABCA4-associated Stargardt disease were recorded by a Scanning Laser Ophthalmoscope (SLO). The results were quantified by two new fixation quality measures expressing the eccentricity of the preferred retinal locus (PRL) non-parametrically, and fixation stability by a dynamic index. 46 eyes (77%) fixated eccentrically; in 32 eyes (70% of t...
متن کاملNull missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa.
PURPOSE To determine the type of ABCR mutations that segregate in a family that manifests both Stargardt disease (STGD) and retinitis pigmentosa (RP), and the functional consequences of the underlying mutations. METHODS Direct sequencing of all 50 exons and flanking intronic regions of ABCR was performed for the STGD- and RP-affected relatives. RNA hybridization, Western blot analysis, and az...
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ژورنال
عنوان ژورنال: JAMA Ophthalmology
سال: 2016
ISSN: 2168-6165
DOI: 10.1001/jamaophthalmol.2015.5471