Reduced visual acuity is accompanied by involuntary movements of the eye termed as nystagmus.

Carrier women have regions of hypo- and hyper-pigmentation in the fundus due to X-inactivation, and partial iris transillumination.

The transcript has been found to be expressing very well in retinal pigment epithelium and skin and to a much lesser extent in brain and adrenal glands.

[10] Mutations in Oa1 have been well characterized and studied using various techniques like southern blot analyses, single-strand conformation polymorphism and sequence analysis.

[11] Most of these mutations have been reported to be occurring in the N-terminus and few in the trans-membrane regions but very rarely in the much conserved cytoplasmic C-terminus.

Populations belonging to different ethnic groups have been extensively analyzed and a database has been created recording the details of mutations related to OA1.

[12] A total of 25 missense, 2 nonsense, 9 frameshift, and 5 splicing mutations have been reported till date.

These deletions are presumed to be because of unequal crossing-over due to the presence of flanking Alu regions.

[13] Mitf has been shown to regulate expression of many melanosomal genes like TYR and TRP-1 through the E-box motif (CATGTG).

Vetrini et al. have used adenoviral vectors to study tissue-specificity of Oa1 transcription through Mitf and observed that this regulation in conserved in human Oa1 gene.

[14] The term albinism [L. albus means 'white'] refers to a heterogeneous group of congenital disorders in melanin pigment biogenesis.

OCA1 is caused due to mutations in tyrosinase gene affecting its catalytic or synthetic activity.

[16] A recent computational work has provided some insight into the three-dimensional structure of this protein and its dynamic interactions with its known ligands.

This is supported by data from Samaraweera, et al. that OA1 colocalizes with Lamp1, which is a marker for late endosomal compartment.

[18] In addition to retina and melanoma, OA1 protein product was also detected in human pigment cells like melanosomal membrane glycoprotein.

[5] However, both these studies revealed that in >60% of these mutations, the protein was retained in the ER and which is assumed to be the major cause of OA1.

[1] Literature shows that it plays a major role in the final stages of growth and maturation of melanosomes.

This conclusion is based on the fact that there are no intermediates of melanosome-melanosome fusion and the number of melanosomes decreases only on maturation of the cell and not in the initial stages of development.

These melanin macroglobules are probably formed due to failure of melanosomes to separate from the ER-golgi system with the accumulation of enzymes and other secretory proteins leading to an increase organelle size.

[2] To date there is no treatment for ocular albinism, probably because little is known about the receptor function and its role in the pathophysiology of the condition.