Heterogeneity of retinal degeneration and hearing impairment syndromes.
Retinal abnormalities associated with hearing loss may be inherited alone or with additional manifestations. Environmental insults, such as rubella embryopathy, may also cause these abnormalities. We studied 13 patients with retinal abnormalities and hearing loss. Five had Usher's syndrome (retinitis pigmentosa and hearing impairment), one had crystalline retinopathy, two had associated enamel dysplasias, two had clumped pigmentary retinopathy, and three had Amalric-Diallinas syndrome. Our findings suggest considerable heterogeneity of syndromes involving retinal abnormalities and hearing loss.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003744:Dental Enamel Hypoplasia / Q000150:complications; D005260:Female; D034381:Hearing Loss / Q000150:complications* / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D011247:Pregnancy; D012162:Retinal Degeneration / Q000150:complications* / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000150:complications* / Q000235:genetics; D013577:Syndrome