ocular albinism 1

An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis_in mutation in the GPR143 gene that encodes segments of the

An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis_in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin.

Signs and symptoms

• Nystagmus
• Photophobia
• Hypoplasia of the fovea
• Ocular albinism
• Reduced visual acuity
• Giant melanosomes in melanocytes
• Nystagmus-induced head nodding
• Fundus hypopigmentation

Also known as: Albinism ocular 1; ocular albinism