MATP was recently reported in a single Turkish OCA patient as the fourth pathological gene, but no other patients with OCA4 have been reported. [ncbi.nlm.nih.gov]

Genetics This type of oculocutaneous albinism is one of the more common types found among Japanese and maybe Chinese individuals although it has also been reported in German and Turkish individuals. [disorders.eyes.arizona.edu]

[…] in b -locus–mutant fish. [ncbi.nlm.nih.gov]

The basic molecular genetics of fish are known 7, 8 and approximately 70 spontaneous pigmentation mutants have been isolated 9. [doi.org]

Adult fish also express the B gene and its expression is not restricted to the melanophore lineage (FIG. 5 e ). [google.de]

High resolution chromosome analysis and fluorescence in situ hybridisation (FISH) using D15S10 (Vysis, Downers Grove, Illinois) as probe showed a karyotype 46,XY,del(15)(q11q13) in the patient. [jmg.bmj.com]

Several painful oedematous nodules with blisters on the face at first visit. (b) Grey-white irides. (c) A black, firm, well-defined, irregularly-shaped tumour on the back. (d) Size 50 25 mm, with an erythematous plaque within the tumour. [medicaljournals.se]

The SLC45A2 gene, also called MATP, located on the short arm of chromosome 5 (5p13.2), encodes a protein, although its exact function is unknown, is likely to be involved in melanin production. [ivami.com]

View Article PubMed Google Scholar Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA, Ballabio A: Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. [doi.org]

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. [ncbi.nlm.nih.gov]

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nat Genet. 1995 May;10(1):13-9. O'Donnell FE Jr, Green WR, Fleischman JA, Hambrick GW. X-linked ocular albinism in Blacks. Ocular albinism cum pigmento. [eyewiki.aao.org]

In addition to mutations in TYR, OCA2, TYRP1 and SLC45A2 gene, alterations in another gene called MC1R, located on the long arm of chromosome 16 (16q24.3), can change the appearance of people with oculocutaneous albinism type 2. [ivami.com]

Due to the hypopigmentation of the retinal pigment epithelium, OCA is usually associated with congenital visual impairment, in addition to an increased risk of skin cancer. [ncbi.nlm.nih.gov]

Ophthalmologic examination reveals visualization of the choroidal blood vessels, reduced retinal pigment and foveal hypoplasia. [orpha.net]

The iris has punctate and radial translucency and moderate retinal pigment is present. The skin may darken with sun exposure. [patient.info]

Clinical manifestations include various degrees of congenital nystagmus, iris hypopigmentation and translucency, reduced pigmentation of the retinal pigment epithelium, foveal hypoplasia, reduced visual acuity usually (20/60 to 20/400) and refractive [doi.org]

Over many years, exposure of lightly pigmented skin to the sun can result in coarse, rough, thickened skin (pachydermia), solar keratoses (premalignant lesions), and skin cancer. Both basal cell carcinoma and squamous cell carcinoma can develop. [ncbi.nlm.nih.gov]

Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism. Eur J Pediatr. 2005; 164 :177–9. [ PubMed : 15565285 ] Inagaki K, Suzuki T, Ito S, Suzuki N, Fukai K, Horiuchi T, Tanaka T, Manabe E, Tomita Y. [ncbi.nlm.nih.gov]

AIM-1 has been reported as an EST isolated from melanocytes and melanoma cells and, more recently, as a new antigen on HLA-A2-expressing melanoma cells recognized by T cells (15). [google.de]