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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.
2000
2000
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America
Abstract. Ocular albinism type 1 (OA1) is an X-linked disorder mainly characterized by congenital nystagmus and photodysphoria… 
Highly Cited
1998
Highly Cited
1998
X-linked ocular albinism: prevalence and mutations – a national study
In a national retrospective register study 112 patients with ocular albinism (OA) were identified, including 60 male patients… 
Highly Cited
1995
Highly Cited
1995
Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.
The locus for ocular albinism type 1 (OA1) has been assigned to the Xp22.3 region through both linkage and deletion mapping. The… 
1994
1994
Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes.
One hundred nineteen individuals from 11 families with X-linked ocular albinism (OA1) were studied with respect to both their… 
1993
1993
X-linked ocular albinism and sensorineural deafness: linkage to Xp22.3.
X-linked ocular albinism with late-onset sensorineural deafness (OASD) is an autonomous disorder that poses significant clinical… 
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… 
1978
1978
Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism.
A family had the following manifestations of Waardenburg's syndrome (WS): prominent nasal root, white forelock, premature graying… 
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… 
Highly Cited
1963
Highly Cited
1963
The electroretinogram in albinos and carriers of the ocular albino trait.
Albinism is a hereditary anomaly of pigmentation caused by the insufficient formation of melanin pigments. There is marked… 
1963
1963
CARRIERS OF OCULAR ALBINISM WITH AND WITHOUT OCULAR CHANGES.
Ocular albinism is a condition of abnormality in the cellular metabolism of the production of melanin in the ocular tissues. This… 
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