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PURPOSE : To characterize the clinical phenotype, with emphasis on electrophysiology, of members of a Swedish family with autosomal dominant retinitis pigmentosa due to a novel mutation, F211L, in the peripherin/RDS gene. METHODS : Nine patients with autosomal dominant retinitis pigmentosa and...
A case report of Stickler's syndrome associated with congenital glaucoma is presented. Stickler's syndrome is an autosomal dominant disorder characterised by progressive arthropathy, midfacial flattening, Pierre Robin anomaly or cleft palate, sensorineural hearing loss, progressive myopia,...
PURPOSE : We evaluated the efficacy of a practice-based survey of age-related maculopathy (ARM) to identify potential families for molecular genetic studies. Demographic and ophthalmic features of the eligible study population were compared with responders and with individuals who reported a...
PURPOSE : To describe the ophthalmologic findings and electroretinograms in patients with microcephaly and chorioretinal degeneration. METHODS : We reviewed the hospital records of 20 patients with microcephaly that was not part of a recognizable syndrome prior to initial referral to the...
Of the close to 10,000 known inherited disorders that affect humankind, a disproportionately high number affect the eye. The total number of genes responsible for the normal structure, function, and differentiation of the eye is unknown, but the list of these genes is rapidly and constantly...
Deficiency of prolidase, a key enzyme in proline metabolism, is extremely rare and is usually associated with skin lesions, recurrent infections, characteristic facies, mental retardation, and splenomegaly. These clinical features are largely due to inhibition of normal recycling of proline,...
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