Linked Life Data

19610097

Source:http://linkedlifedata.com/resource/pubmed/id/19610097

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
2009-7-30
pubmed:abstractText
X-linked ocular albinism (OA1) is the most common form of ocular albinism. Affected males are characterized by nystagmus, impaired visual acuity, iris hypopigmentation with translucency, fundus hypopigmentation, macular hypoplasia, and normally pigmented skin and hair. However, OA1 has rarely been reported in China. Here, we report on a Chinese family with OA1 and partial deletion of GPR143. An unusual phenotype of iris hyperpigmentation without translucency was observed in the male patient and the carrier mother. There was apparent mosaic pigmentation of the fundus. Our results demonstrate atypical manifestation of OA1 that might enrich our knowledge of phenotypic variation of OA1 among the Chinese population.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1552-4833
pubmed:author
pubmed:copyrightInfo
2009 Wiley-Liss, Inc.
pubmed:issnType
Electronic
pubmed:volume
149A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1786-8
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation.
pubmed:affiliation
Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't