Clinical features of affected males with X linked ocular albinism.
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.
Charles
S J
SJ
Addenbrooke's Hospital, Cambridge Department of Ophthalmology.
Green
J S
JS
Grant
J W
JW
Yates
J R
JR
Moore
A T
AT
D000293:Adolescent; D000328:Adult; D000368:Aged; D016117:Albinism, Ocular / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D005127:Eye Color; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008266:Macula Lutea / Q000002:abnormalities; D008297:Male; D008875:Middle Aged; D009759:Nystagmus, Pathologic / Q000150:complications; D009898:Optic Disk / Q000002:abnormalities; D011379:Prognosis; D012030:Refractive Errors / Q000150:complications; D014792:Visual Acuity; D014960:X Chromosome