Recent articles about Ocular Albinism

A Randomized Placebo-Controlled Trial To Investigate The Effect Of Lutein And...

[ CLINICAL_TRIAL ] ... oculocutaneous albinism. Lutein and zeaxanthin supplementation will be compared to a placebo (no treatment) gel pill over the period of 12 months, with study visits approximately every 3 ...
Known for
Visual Function | Macular Pigment | Zeaxanthin Supplementation | Albinism Lutein

Visual Function And Ocular Pigmentation In Albinism. Visual Function And Ocular...

[ CLINICAL_TRIAL ] ... with albinism and other hypomelanotic disorders. To identify the carrier state in relatives of patients with ocular albinism. Detailed Description Visual function and ocular pigmentation ...
Known for
Ocular Pigmentation | Visual Function | Albinism Disorders | Retina Choroidal

Clinical, Cellular, And Molecular Investigations Into Oculocutaneous Albinism....

[ CLINICAL_TRIAL ] ... hypopigmentation, ocular hypopigmentation, and visual deficits, and 2) involvement of both of the major developmental types of pigmented cells, i.e., melanocytes and retinal pigment ...
Known for
Oculocutaneous Albinism | Ocular Hypopigmentation | Oca Genes | Gene Inherited

Detailed Retinal Imaging In Carriers Of Ocular Albinism

[ PUBLICATION ] ... both ocular and cutaneous features of the disease, but occasionally hair and skin pigmentation may appear normal. This is the case in ocular albinism, an X chromosome linked disorder ...
Known for
Ocular Albinism | Detailed Retinal Imaging | Female Carriers | Fundus Autofluorescence

New Mutations Identified In The Ocular Albinism Type 1 Gene

[ PUBLICATION ] ... ocular albinism, ocular albinism type I (OA1) is an X-linked disorder that has an estimated prevalence of about 1:50,000. We searched for mutations through the human genome sequence draft ...
Known for
Ocular Albinism | Mutations Identified | Coding Region | Oa1 Gene

A Novel Nonsense Mutation Of The Gpr143 Gene Identified In A Chinese Pedigree...

[ PUBLICATION ] ... ocular albinism type I in a Chinese pedigree. METHODOLOGY/PRINCIPAL FINDINGS: Complete ophthalmologic examinations were performed on 4 patients, 7 carriers and 17 unaffected individuals in ...
Known for
Ocular Albinism | Chinese Pedigree | Gpr143 Gene | Nonsense Mutation

Oa1 Knock-Out: New Insights On The Pathogenesis Of Ocular Albinism Type 1

[ PUBLICATION ]
Known for
Ocular Albinism | Giant Melanosomes | Microscopic Examination | Rpe Cells

The Ocular Albinism Type 1 Protein, An Intracellular G Protein-Coupled Receptor,...

[ PUBLICATION ] ... the ocular albinism type 1 gene, named OA1, is a pigment cell-specific G protein-coupled receptor exclusively localized to intracellular organelles, namely lysosomes and melanosomes. Loss ...
Known for
Pigment Cells | Ocular Albinism | Melanosome Transport | 1 Protein

Deletion Analysis Maps Ocular Albinism Proximal To The Steroid Sulphatase Locus

[ PUBLICATION ] ... ocular albinism. In two out of four affected individuals studied, there was unilateral renal agenesis. Deletion analysis using the Xp22.32 markers MIC2, DXS31, DXS 89,
Known for
Ocular Albinism | Steroid Sulphatase Locus | Unilateral Renal Agenesis | Male Members

Ocular Albinism With Sensorineural Deafness

[ PUBLICATION ]
Known for
Ocular Albinism | Sensorineural Deafness | Characteristic Features | Blue Eyes

 

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