Clinical features of affected males with X linked ocular albinism. Issue 4 (April 1993)

• Record Type: Journal Article
• Authors: Charles, S J; Green, J S; Grant, J W; Yates, J R; Moore, A T
• Is Part Of: British journal of ophthalmology. Volume 77:Issue 4(1993)
• Page Start: 222
• Page End: 227
• Publication Date: 1993-04
• Subjects: Ophthalmology -- Periodicals; 617.7
• DOI: 10.1136/bjo.77.4.222
• Languages: English
• ISSNs: 0007-1161

Abstract

Abstract : Seventy four males affected by X linked ocular albinism (XLOA) from 19 pedigrees were examined to assess phenotypic variation and visual prognosis. Nystagmus was present in all cases except one. Best visual acuity ranged from 6/9 to 6/60; 79.7% could see 6/36 or better; most could read N5. Marked iris translucency and foveal hypoplasia were present in all cases. Posterior embryotoxon was present in 30% and dysplastic optic discs were often seen. Pigmentation of the posterior pole was associated with better visual acuity. XLOA is under-diagnosed: almost 20% of cases had been previously diagnosed as having congenital nystagmus until reviewed in this study.