Oculocutaneous Albinism.

Abstract

A 5-year-old Chinese girl presented intense photophobia and blurring vision from birth. Her uncorrected visual acuity was 20/200 for the right eye and 10/200 for the left eye. The best-corrected visual acuity was 30/200 and 20/200, respectively. Both eyes had horizontal pendular nystagmus. The iris of both eyes was diaphanous translucent. Retinal examination showed a lack of pigment, notably large choroidal vessels, and macular hypoplasia (Fig. 1). Optical coherence tomography results demonstrated an absence of the foveal pit and loss of usual thinning of macula. She also had white eyelashes and hypopigmentation of skin and hair (Supplementary Digital Content, Fig. 1, https://links.lww.com/APJO/A131). Her parents are cousins, and both had neither albinism nor other systematic or ocular diseases. Sunglasses were recommended to relieve the symptom of photophobia. Appropriate sunscreens and periodic inspection for early detection of skin cancer were advised.Figure 1: Color images of anterior segment indicated diaphanous translucent iris. The fundus images showed lack of pigment, notably large choroidal vessels, as well as macular hypoplasia for the retina of the patients.