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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.
Review
2014
Review
2014
Increasing the complexity: new genes and new types of albinism
Albinism is a rare genetic condition globally characterized by a number of specific deficits in the visual system, resulting in… 
Highly Cited
2009
Highly Cited
2009
Abnormal foveal morphology in ocular albinism imaged with spectral-domain optical coherence tomography.
OBJECTIVES To evaluate the spectrum of foveal architecture in pediatric albinism and to assess the utility of spectral-domain… 
Review
2001
Review
2001
Prosthetic iris implantation for congenital, traumatic, or functional iris deficiencies
Highly Cited
1999
Highly Cited
1999
Ocular albinism: evidence for a defect in an intracellular signal transduction system
G protein-coupled receptors (GPCRs) participate in the most common signal transduction system at the plasma membrane. The wide… 
Highly Cited
1997
Highly Cited
1997
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA).
Waardenburg syndrome (WS) is a clinically and genetically heterogeneous disease accounting for >2% of the congenitally deaf… 
Highly Cited
1995
Highly Cited
1995
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome
Ocular albinism type 1 (OA1) is an X–linked disorder characterized by severe impairment of visual acuity, retinal… 
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… 
Review
1993
Review
1993
Molecular genetics of oculocutaneous albinism.
Albinism is a group of genetic disorders characterized by deficient synthesis of melanin pigment. In oculocutaneous albinism (OCA… 
Highly Cited
1980
Highly Cited
1980
Macromelanosomes in X‐linked ocular albinism
Examination of clinically normal skin from four patients with X‐linked ocular albinism of the Nettleship‐Falls type by light and… 
Highly Cited
1976
Highly Cited
1976
X-Linked Ocular Albinism: An Oculocutaneous Macromelanosomal Disorder
• Three unrelated kindreds with the Nettleship-Falls type of X-linked ocular albinism were studied. Postmortem examination of the… 
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