Abstract
We report a rare case of unilateral ocular albinism in a female with bilateral retinitis pigmentosa. The patient had heterochromia irides with albinoid fundus in the same eye. The unique features in our case are association with retinitis pigmentosa, females rarely affected, uniocular presentation of albinism which has never been reported earlier, minimal refractive error, no nystagmus/ strabismus, well maintained stereopsis, negative family history. There was history of consanguineous marriage present in the patient, her parents and also her grandparents. A thorough physical & systemic examination should be done in such a patient to rule out life threatening disorders. Pedigree charting, discouraging consanguineous marriages, genetic counseling and if needed genetic testing should always be done.
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