Albinism and congenital nystagmus are inherited disorders characterized by impaired visual development resulting from abnormalities of pigmentation, foveal development, retinal function, or ocular motor control. Clinical manifestations may include congenital nystagmus, reduced visual acuity, foveal hypoplasia, photophobia, iris transillumination, and ocular or cutaneous hypopigmentation.

This panel includes genes associated with the major forms of oculocutaneous albinism, ocular albinism, Hermansky-Pudlak syndrome, congenital nystagmus, and related pigmentation disorders. Representative genes include TYR, OCA2, SLC45A2, SLC24A5, GPR143, FRMD7, SLC38A8, and MITF.

This panel is recommended for patients whose primary clinical features include congenital nystagmus, hypopigmentation, foveal hypoplasia, or reduced visual acuity suggestive of albinism or related disorders. It is preferred over broader retinal panels when pigmentation-related visual impairment is the predominant phenotype.