Familial tapetoretinal degeneration and epilepsy.
Tapetoretinal degeneration is described in two siblings in association with generalized major motor seizures and intellectual impairment. Neither of these patients have the characteristic dysmorphic features or biochemical abnormalities seen in previously described cases, which are reviewed. Inheritance was probably autosomal recessive.
D000293:Adolescent; D000328:Adult; D004827:Epilepsy / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D010857:Pigment Epithelium of Eye; D012162:Retinal Degeneration / Q000150:complications / Q000235:genetics*