Author:

Keywords:

Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Ophthalmology, Neurosciences & Neurology, spinocerebellar ataxia, visual loss, autosomal dominant, retinal degeneration, SCA7, DOMINANT CEREBELLAR-ATAXIA, ADCA TYPE-II, RETINAL DEGENERATION, FAMILIES, STANDARD, PHENOTYPE, DYSTROPHY, ATROPHY, 1109 Neurosciences, 1113 Opthalmology and Optometry, Ophthalmology & Optometry, 3209 Neurosciences, 3212 Ophthalmology and optometry, 5202 Biological psychology

Abstract:

A 22-year-old woman (index case) presented at the department of ophthalmology with progressive visual loss for the past 3 years. Ophthalmological examination revealed a visual acuity of 20/100 in each eye. At funduscopy, a dull macular reflex was noted. Family history revealed spinocerebellar ataxia type 7 (SCA7 in three generations. We describe the ophthalmological findings in this family. Insidious visual problems can be the presenting sign of spinocerebellar ataxia type 7. In examining a negative family history, the diagnosis can be very difficult.