Linked Life Data

2320353

Source:http://linkedlifedata.com/resource/pubmed/id/2320353

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1990-5-10
pubmed:abstractText
Hypomelanosis Ito (HI) is a very rare neurocutaneous syndrome which is often associated with cutaneous, cerebral, musculoskeletal and ocular abnormalities. The paper deals with changes in familial HI (mother and daughter) with special consideration of ocular symptomatology; it also presents a review about the relevant literature published to date--not documented with photographs with one exception. The argument is raised whether all ocular changes described in HI actually belong to the syndrome or are partly a mere coincidence. There is also a description of a cataract which has never been observed in cases of HI. Electrophysiological tests (electroretinography, electro-oculography, visual-evoked potential) which to date have not been carried out for HI, are presented and their results reported. Mention is also made of the hereditary factor which has so far been questioned; it is assumed that it is autosomal dominant in character. In this context, the results of a chromosome analysis in both mother and daughter are presented.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0030-3755
pubmed:author
pubmed:issnType
Print
pubmed:volume
200
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1-6
pubmed:dateRevised
2007-9-17
pubmed:meshHeading
pubmed:year
1990
pubmed:articleTitle
Ocular symptomatology in familial hypomelanosis Ito. Incontinentia pigmenti achromians.
pubmed:affiliation
1st University Eye Clinic Vienna, Austria.
pubmed:publicationType
Journal Article, Case Reports