Disease relevance of Albinism, Ocular

• We studied the tyrosinase and P genes in three patients with type II oculocutaneous albinism, one of whom also had Prader-Willi syndrome, and in one patient with a milder syndrome known as autosomal recessive ocular albinism [1].
• (1978) to also obtain a genetical classification, supported by the hairbulb test, has not proved to be useful for the classification of tyrosinase negative (TNOCA), tyrosinase positive oculocutaneous albinism (TPOCA), and autosomal recessive ocular albinism (AROA) as genetically distinct forms [2].
• X-linked ocular albinism can be an unsuspected cause of congenital nystagmus in blacks [3].
• Affected members had X-linked ichthyosis due to steroid sulphatase deficiency, Kallmann's syndrome, but no ocular albinism [4].
• The heterozygous states in X-linked ocular albinism, choroideremia and X-linked retinitis pigmentosa are described [5].

High impact information on Albinism, Ocular

• We postulate an involvement of TBL1 in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype [6].
• OA1 mutations and deletions in X-linked ocular albinism [7].
• A previously unidentified sequence motif has been identified in the products of genes mutated in Miller-Dieker lissencephaly, Treacher Collins, oral-facial-digital type 1 and contiguous syndrome ocular albinism with late onset sensorineural deafness syndromes [8].
• The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions [9].
• Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci [10].

Chemical compound and disease context of Albinism, Ocular

• Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus [4].
• Fundal findings in a female carrier of X-linked ocular albinism [11].

Biological context of Albinism, Ocular

• One hundred nineteen individuals from 11 families with X-linked ocular albinism (OA1) were studied with respect to both their clinical phenotypes and their linkage genotypes [12].
• X-linked ocular albinism (OA1), Nettleship-Falls type, is characterized by decreased ocular pigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity [7].
• Genetic linkage studies in a large Newfoundland family affected by X-linked ocular albinism (OA1) showed linkage to markers from Xp22 [13].
• Classical X-linked ocular albinism (without deafness; OA1) has recently been linked to markers in the Xp22.2-Xp22.3 region of the human genome [14].
• X-linked ocular albinism: a family containing a manifesting heterozygote, and an affected male married to a female with autosomal recessive ocular albinism [15].

Anatomical context of Albinism, Ocular

• Expression pattern of the ocular albinism type 1 (Oa1) gene in the murine retinal pigment epithelium [16].
• To investigate the function of ocular albinism type 1 (OA1), the gene responsible for X-linked ocular albinism, we employed a construct containing murine Oa1 fused to green fluorescent protein (GFP) in a heterologous COS cell expression system [17].

Gene context of Albinism, Ocular

• X-linked ocular albinism with late-onset sensorineural deafness (OASD) is an autonomous disorder that poses significant clinical problems, causing affected individuals to be blind and deaf by early middle age [14].
• The clinical picture of AIED includes myopia and astigmatism, reduced visual acuity, nystagmus, ocular albinism, hemeralopia and dyschromatopsia (No. 300600, McKusick 1990) [18].
• The most common diagnoses were congenital nystagmus (19), ocular albinism (6), myopia (4), cataract (4) and microphthalmia (4) [19].
• A young girl with ocular albinism and the Hermansky-Pudlak syndrome is described [20].
• Ocular albinism was found in 3 cases, whereas strabismus was found in 24 subjects (2.3%) [21].

References