High myopia, retinal dystrophy, and mental retardation in siblings.
A 15-year-old girl and her 13-year-old brother had high myopia, mottled retinas with nonrecordable electroretinographic responses OU, and mental retardation. Both siblings had normal pupillary reactions to light, normal levels of serum amino acids, no nystagmus, no obesity, and no polydactyly. A consanguineous marriage of the patients' parents was found. We believe that the association of high myopia, retinal dystrophy, and mental retardation noted in these siblings may be uncommon.
Hayasaka
S
S
Department of Ophthalmology, Shimane Medical University, Izumo, Japan.
Fujitani
A
A
Noda
S
S
Setogawa
T
T
D000293:Adolescent; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D009216:Myopia / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D012162:Retinal Degeneration / Q000150:complications / Q000235:genetics*