Ectopia lentis, chorioretinal dystrophy and myopia. A new autosomal recessive syndrome.
Four of five siblings born of a consanguineous marriage demonstrated abnormalities of the lens (ectopia lentis and dense cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment) associated with myopia. This association in an autosomal recessive pedigree has not been previously noted.
Noble
K G
KG
Department of Ophthalmology, New York University Medical Center, New York.
Bass
S
S
Sherman
J
J
D000293:Adolescent; D000328:Adult; D002386:Cataract / Q000235:genetics; D015862:Choroid Diseases / Q000235:genetics*; D004479:Ectopia Lentis / Q000235:genetics*; D004596:Electroretinography; D005124:Eye Abnormalities / Q000235:genetics; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D008297:Male; D009216:Myopia / Q000235:genetics*; D010375:Pedigree; D012162:Retinal Degeneration / Q000235:genetics*; D013577:Syndrome