title: A familial syndrome of progressive cone dystrophy, degenerative liver disease, endocrine dysfunction and hearing defect. I. Ophthalmological findings.
abstract: Seven patients, 6 females and one male, with progressive cone dystrophy are reported. One patient developed amaurosis in one eye and fere amaurosis in the other. The least affected patient (13 years of age) had fairly good central cone vision, but a rod response only outside the central area. Attenuated retinal vessels, disc pallor and general atrophic appearance without pigmentation were typical findings. Six of the patients originated from 2 sibships. Increasing impairment of vision during pregnancy was seen in two patients. Pathological glucose tolerance, diabetes, liver disease, endocrinological disturbances, and hearing defects were recorded. Thus, this cone dystrophy appears to be part of a disease affecting several organs. The familial occurrence suggests that this disorder is inherited.
mesh_terms: D000328:Adult; D001766:Blindness / Q000235:genetics; D002648:Child; D003118:Color Perception; D003623:Dark Adaptation; D003638:Deafness / Q000235:genetics*; D003930:Diabetic Retinopathy / Q000235:genetics; D004596:Electroretinography; D004700:Endocrine System Diseases / Q000235:genetics*; D005260:Female; D006801:Humans; D008107:Liver Diseases / Q000235:genetics*; D008297:Male; D012162:Retinal Degeneration / Q000235:genetics*; D014065:Tonometry, Ocular; D014787:Vision Tests