X-linked recessive congenital stationary night blindness, myopia, and tilted discs.
A family with X-linked recessive congenital stationary night blindness, myopia, and tilted discs has been identified. All affected members have decreased vision, nystagmus, strabismus with decreased binocular function, visual field defects, abnormal fundus appearance with typical fluorescein angiographic findings of tilted disc syndrome, abnormal electroretinograms, and abnormal visual evoked responses to patterned stimuli. Similar clinical evaluation of an obligate carrier revealed no ocular abnormalities.
D000328:Adult; D002648:Child; D004948:Esotropia / Q000150:complications; D005260:Female; D006801:Humans; D008297:Male; D009216:Myopia / Q000150:complications / Q000151:congenital*; D009755:Night Blindness / Q000150:complications / Q000151:congenital*; D009759:Nystagmus, Pathologic / Q000150:complications; D009898:Optic Disk / Q000002:abnormalities*; D010375:Pedigree; D013577:Syndrome; D014794:Visual Fields; D014960:X Chromosome