Ocular albinism (OA) is an x-linked recessive disorder characterized by low visual acuity, nystagmus, iris transparency, hypopigmentation of the fundus and macular central hollow hypoplasia. Among the many clinical types, ocular albinism type 1 (OAl) is the most common and is characterized by a loss of pigment in the fundus, which leads to a very pronounced choroidal vascularity with symptoms such as nystagmus, nodding and visual disturbances. Some patients may have iris color changes and light skin hair color, which are often misdiagnosed as other types of nystagmus because of the atypical clinical presentation.
OAl is inherited in an x-linked recessive manner, and the onset is mainly in males. Most male patients have only ocular manifestations, such as retinal pigment deficiency? s, hypotony, nystagmus, and hypoplasia of the optic nerve central recess. The morphology, size, and number of melanocytes in the skin, hair, and retinal pigment epithelium of OAl patients are normal, but the number of melanosomes in them is significantly reduced, and there are The GPRl43 gene, located at Xp22.3, is approximately 404 kb in length and contains 9 exons. It has also been suggested that GPRl43 protein is a receptor for levodopa, which is a precursor of melanin synthesis, and it is speculated that GPRl43 protein may be involved in regulating the growth and maturation of melanosomes.