Fine central macular dots associated with childhood-onset Stargardt Disease.
نویسندگان
چکیده
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منابع مشابه
Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease
PURPOSE To describe the clinical and molecular characteristics of patients with childhood-onset Stargardt disease (STGD). DESIGN Retrospective case series. PARTICIPANTS Forty-two patients who were diagnosed with STGD in childhood at a single institution between January 2001 and January 2012. METHODS A detailed history and a comprehensive ophthalmic examination were undertaken, including c...
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BACKGROUND Stargardt disease (STGD) is the most common juvenile hereditary macular dystrophy. In the majority of cases, the diagnosis is made prior to 20 years of age and usually leads to loss of central vision. Late-onset STGD affects a smaller number of patients. Identifying genetic changes which could be associated with clinically important differences in severity or presentation of the dise...
متن کاملExome Sequencing Analysis Identifies Compound Heterozygous Mutation in ABCA4 in a Chinese Family with Stargardt Disease
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 کاملCorrelation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease
Stargardt disease (STGD1) is the most common cause of inherited juvenile macular degeneration. This disease is characterized by a progressive accumulation of lipofuscin in the outer retina and subsequent loss of photoreceptors and retinal pigment epithelium. The aim of this study was to evaluate the relationship between cone photoreceptor function and structure in STGD1. Macular function was as...
متن کاملAutosomal dominant Stargardt-like macular dystrophy: founder effect and reassessment of genetic heterogeneity.
OBJECTIVES To characterize a disease-associated haplotype in 7 families with autosomal dominant Stargardt-like macular dystrophy and to determine whether these families share a common ancestor. METHODS Twenty-five polymorphic DNA markers spanning known dominant Stargardt-like gene loci were used to determine the haplotype associated with disease. In addition, an extensive genealogical investi...
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ورودعنوان ژورنال:
- Acta ophthalmologica
دوره 92 2 شماره
صفحات -
تاریخ انتشار 2014