Oculocutaneous albinism with iridofundal coloboma

Description

A 20-year-old woman presented to the retina clinic with complaints of diminution of vision, photophobia and involuntary movement of both eyes since birth. The patient had light-coloured skin complexion along with golden hair. Best corrected visual acuity was 1/60 and 4/60 in the right and left eyes, respectively. Ocular examination revealed manifest nystagmus, but there was no evidence of squint or head posture. The anterior segment had clear cornea and lens, with colobomatous light-coloured iris. Fundus examination in the right eye showed diffusely hypopigmented fundus with a large, well-defined excavated area along the inferior and nasal quadrant, extending well above the optic disc and the macula, suggestive of type I iridofundal coloboma (figure 1). Similarly, in the left eye, there was diffuse hypopigmentation except at the macula. Retinal and choroidal vessels were well appreciated along with their drainage into the vortex veins (figure 2)....

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