Retinal aplasia in association with macular coloboma, keratoconus and cataract.
D000293:Adolescent; D000328:Adult; D001766:Blindness / Q000235:genetics*; D002386:Cataract / Q000235:genetics; D002648:Child; D003103:Coloboma / Q000235:genetics*; D003241:Consanguinity; D003937:Diagnosis, Differential; D004596:Electroretinography; D005260:Female; D005654:Fundus Oculi / Q000002:abnormalities; D005817:Genetic Counseling; D006801:Humans; D007640:Keratoconus / Q000235:genetics; D008266:Macula Lutea / Q000002:abnormalities*; D008297:Male; D009887:Ophthalmoscopy; D012160:Retina / Q000002:abnormalities*; D012171:Retinal Vessels / Q000002:abnormalities; D012174:Retinitis Pigmentosa / Q000175:diagnosis