Dr.pallavi badhabade, P21599
Oculocutaneous albinism(OCA) is a rare genetic disorder of melanin synthesis.The prevalence is 1/17000.As the phenotypic expression is a rare possibility,so the study was undertaken.
METHODS-A 13yr girl presented to OPD with H/O decreased V/A,alternating exotropia,nystagmus,photophobia, hypopigmentation of hair and skin.On examination BCVA was 6/60 OU.Slit lamp revealed iris transillumination defects.Fundus showed hypopigmentation with absent foveal reflex and prominent choroidal vasculature.On detailed history she revealed similar skin changes in her 17yr brother suggesting phenotypic expression of OCA with BCVA 6/60 OU and similar slit lamp and fundus findings.OCT revealed foveal hypoplasia in both cases.
DISCUSSION-Diagnosis of OCA was done based on clinical findings and test results.Management consists refractive correction;amblyopia treatment and concurrent physical,occupational and low vision therapy. Collaboration with other medical specialities is warranted throughout life.
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