Clinical features of affected males with X linked ocular albinism.
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ABSTRACT:
SUBMITTER: Charles SJ
PROVIDER: S-EPMC504486 | biostudies-other | 1993 Apr
REPOSITORIES: biostudies-other
Publications
Clinical features of affected males with X linked ocular albinism.
Charles S J SJ Green J S JS Grant J W JW Yates J R JR Moore A T AT
The British journal of ophthalmology 19930401 4
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 ...[more]
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