Fleck retina in Kjellin's syndrome.
We examined members of two families with Kjellin's syndrome, an autosomal recessive disorder characterized by spastic paraparesis, dementia, and macular changes. Although the retinal lesions resemble the flecks of fundus flavimaculatus by ophthalmoscopy, they appear distinct from previously reported retinal flecks by fluorescein angiography.
D000328:Adult; D003704:Dementia / Q000175:diagnosis*; D005451:Fluorescein Angiography; D006801:Humans; D008266:Macula Lutea; D008297:Male; D008875:Middle Aged; D009128:Muscle Spasticity / Q000175:diagnosis*; D010264:Paraplegia / Q000175:diagnosis*; D012164:Retinal Diseases / Q000175:diagnosis*; D013577:Syndrome