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Albinism, Ocular

Known as: Albinism, Ocular [Disease/Finding], Ocular albinism, albinism ocular 
Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls… 
National Institutes of Health

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ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)Ocular albinism, type IOcular albinism, type II
Absent corpus callosum cataract immunodeficiencyAlbinism with hemorrhagic diathesis and pigmented reticuloendothelial cellsHERMANSKY-PUDLAK SYNDROME 10In Blood

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2006
2006
Assessment of cortical visual field representations with multifocal VEPs in control subjects, patients with albinism, and female carriers of ocular albinism.
PURPOSE In human albinism, part of the temporal retina projects abnormally to the contralateral hemisphere. This study was… 
1996
1996
Isolation and characterization of a mouse homolog of the X-linked ocular albinism (OA1) gene.
Ocular albinism type 1 (OA1) is an X-linked human genetic disorder that affects retinal pigment cells and, to a lesser degree… 
1995
1995
Development and physical analysis of YAC contigs covering 7 Mb of Xp22.3-p22.2.
1993
1993
Genetic mapping of X-linked ocular albinism: linkage analysis in a large Newfoundland kindred.
Genetic linkage studies in a large Newfoundland family affected by X-linked ocular albinism (OA1) showed linkage to markers from… 
1992
1992
Ocular albinism in a male with del (6)(q13-q15): candidate region for autosomal recessive ocular albinism?
We describe a boy with an interstitial deletion of 6(q13-q15) and include "coarse" facial features, upslanting palpebral fissures… 
1985
1985
Macromelanosomes in X-linked ocular albinism (XLOA).
A case of X-linked ocular albinism is reported. Characteristic Masson-Fontana positive and Dopa positive giant melanin granules… 
1981
1981
X-linked ocular albinism: relative value of skin biopsy, iris transillumination and funduscopy in identifying affected males and carriers.
In a group of 15 males with X-linked ocular albinism and 13 obligate carriers of the gene for the condition skin biopsy in a… 
1972
1972
Nystagmus in a female carrier of ocular albinism.
account for the phenotypic variability in these cases would be the expression of recessive genes present on the hemizygous… 
1967
1967
Measurable linkage between ocular albinism and Xg.
OCULAR ALBINISM is an X-linked trait causing pigmentary disturbances pri-marily localized to the eyes. The characteristic… 
1962
1962
Characteristics and low-vision corrections in albinism. A report of 161 patients.
Albinism is a congenital hereditary anomaly caused by a biochemical lesion in pigment metabolism. The biochemical anomaly… 
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