Typical presentation of autosomal recessive oculocutaneous albinism in two siblings.

Abstract

Objective: We report the case history and clinical findings in two siblings, a 13-year-old male and a 10-year-old female, who presented with complaints of poor vision since childhood. Both children had blonde hair and depigmented skin.

Methods: Ocular examination revealed white eyebrows, white eyelashes, diminished vision in all eyes, hypochromic irides and pendular nystagmus. On dilated fundus examination, hypopigmented fundi with conspicuously visible choroidal vessels were noted. No foveolar reflex could be discerned and spectral domain optical coherence tomography (SD-OCT) of the macula showed an absence of the foveal pit in all four eyes. On pedigree charting the subjects were the 2^nd and 3^rd offspring of a non-consanguineous married couple. One of the mother's siblings and one of the grandmother's siblings also had a similar disorder.

Results: The poor definition of the foveal pit at the centre of the macula, i.e. foveal hypoplasia, accounted for poor visual acuity and nystagmus. Both cases had no syndromic associations. Spectacle correction was prescribed to both children, and low-vision aids and sun protection advised.

Conclusion: Oculocutaneous albinism (OCA) represents a range of inherited, congenital disorders of hypomelanosis, involving the skin, hair, and eyes with an estimated prevalence of 1 in 17,000 cases. Affected children suffer severe visual disability while early identification may potentially mitigate it, hence there is need to sensitize primary care practitioners regarding the general symptoms of OCA.