A family study of fundus flavimaculatus.
Three sisters, aged 14 to 25 years, showed ophthalmoscopic findings typical for fundus flavimaculatus with atrophic macular disturbances. Examination of all surviving family members did not disclose any additional affected persons. This four-generation pedigree indicated an autosomal recessive inheritance pattern.
D000293:Adolescent; D000328:Adult; D001284:Atrophy; D003119:Color Perception Tests; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D005808:Genes, Recessive; D006801:Humans; D009887:Ophthalmoscopy; D010375:Pedigree; D012160:Retina / Q000473:pathology; D012164:Retinal Diseases / Q000235:genetics / Q000473:pathology; D014065:Tonometry, Ocular; D014792:Visual Acuity