Ocular and Oculocutaneous Albinism

Gene: GPR143

Green List (high evidence)

Ocular albinism type I (OA1) is the most common form of ocular albinism. Clinical presentation of OA1 in Caucasians is characterized by nystagmus, impaired visual acuity, iris hypopigmentation with translucency, albinotic fundus, macular hypoplasia, and normally pigmented skin and hair. Carrier females usually have punctate iris translucency and a mottled pattern of fundus pigmentation. In contrast to Caucasian patients, black or Japanese patients with OA1 often have brown irides with little or no translucency and varying degrees of fundus hypopigmentation, the so-called 'nonalbinotic fundus'.

Well established gene-disease association.

Created: 4 Jun 2021, 7:56 a.m. | Last Modified: 4 Jun 2021, 7:56 a.m.

Panel Version: 0.38

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Ocular albinism, type I, Nettleship-Falls type, MIM# 300500; MONDO:0021019

Publications

• 7647783
• 9529334
• 11793467

Green List (high evidence)

X-linked condition generally affect males, het female exhibit some mosaicism due to X linked inactivation (PMID: 29761529).

No clear genotype-phenotype correlation.

Created: 27 May 2020, 5:31 a.m. | Last Modified: 27 May 2020, 5:31 a.m.

Panel Version: 0.2909

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
congenital nystagmus 6, MIM 300814; ty[e I ocular albinism, Nettleship-Falls type, MIM 300500

Publications

• 30555098
• 29761529