What are the key clinical features to consider when diagnosing oculocutaneous albinism in a patient?

Key clinical features for diagnosing oculocutaneous albinism (OCA) include:

• Skin and hair hypopigmentation: Patients typically present with markedly reduced or absent melanin pigment in the skin, hair, and eyes, resulting in very pale skin and light-colored hair compared to family members or ethnic background NICE NG82 Adam et al. 1993.
• Ocular abnormalities: These include nystagmus (involuntary eye movements), reduced visual acuity, photophobia (light sensitivity), and strabismus (misalignment of the eyes) NICE NG82 Neveu et al. 2022.
• Foveal hypoplasia: Underdevelopment of the fovea, the central part of the retina responsible for sharp vision, is a hallmark and can be detected by ophthalmological examination NICE NG82 Neveu et al. 2022.
• Abnormal iris pigmentation and translucency: The iris may appear lighter and translucent, sometimes showing the underlying blood vessels, which contributes to photophobia NICE NG82 Neveu et al. 2022.
• Visual pathway misrouting: Abnormal decussation of optic nerve fibers at the chiasm can be demonstrated by visual evoked potentials, supporting the diagnosis NICE NG82 Neveu et al. 2022.
• Genetic confirmation: Molecular genetic testing identifying mutations in genes responsible for melanin synthesis (e.g., TYR, OCA2, TYRP1, SLC45A2) can confirm the diagnosis and subtype of OCA NICE NG82 Simeonov et al. 2013.

These features together form the clinical basis for diagnosing OCA, with ophthalmological signs being critical alongside characteristic skin and hair hypopigmentation. Genetic testing is increasingly important for definitive diagnosis and counselling NICE NG82 Simeonov et al. 2013Neveu et al. 2022.