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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… Expand
National Institutes of Health

Papers overview

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Highly Cited
2009
Highly Cited
2009
OBJECTIVES To evaluate the spectrum of foveal architecture in pediatric albinism and to assess the utility of spectral-domain… Expand
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Highly Cited
2008
Highly Cited
2008
PURPOSE Autosomal recessive ocular albinism (AROA) is a group of genetic disorders in which reduced pigmentation of the eye is… Expand
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Review
2007
Review
2007
Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction… Expand
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Review
1999
Review
1999
Albinism, caused by a deficiency of melanin pigment in the skin, hair, and eye (oculocutaneous albinism [OCA]), or primarily in… Expand
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Highly Cited
1999
Highly Cited
1999
G protein-coupled receptors (GPCRs) participate in the most common signal transduction system at the plasma membrane. The wide… Expand
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1997
1997
Waardenburg syndrome (WS) is a clinically and genetically heterogeneous disease accounting for >2% of the congenitally deaf… Expand
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Highly Cited
1995
Highly Cited
1995
Ocular albinism type 1 (OA1) is an X–linked disorder characterized by severe impairment of visual acuity, retinal… Expand
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Highly Cited
1994
Highly Cited
1994
BACKGROUND Type II (tyrosinase-positive) oculocutaneous albinism is an autosomal recessive disorder that has recently been mapped… Expand
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Highly Cited
1990
Highly Cited
1990
Five types of oculocutaneous albinism and two types of ocular albinism were found among 349 Puerto Rican albinos. The most… Expand
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1980
1980
Examination of clinically normal skin from four patients with X-linked ocular albinism of the Nettleship-Falls type by light and… Expand
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