Linked Life Data

10326971

Source:http://linkedlifedata.com/resource/pubmed/id/10326971

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1999-5-19
pubmed:abstractText
Ichthyosis follicularis, atrichia, and photophobia (IFAP) are typical features of a rare neuroichthyosis termed IFAP syndrome. We demonstrate the ultrastructural findings of the eyes from a 33-year-old patient with IFAP syndrome. Clinically, eyebrows and eyelashes were absent from birth, and photophobia was noted at the age of 1 year. The globes measured 28 and 29 mm, respectively, and both eyes showed a posterior staphyloma. Histopathologically, bilateral centrally located subepithelial avascular corneal scarring with secondary corneal amyloid deposition was found. In addition to already described ocular abnormalities in IFAP syndrome we demonstrate ultrastructural anomalies of desmosomes and tonofilaments in corneal epithelium; defects of basement membrane, Bowman layer, and anchoring fibrils; secondary corneal amyloid deposition; and keratocyte degeneration. A defective tear film, recurrent atopic keratoconjunctival inflammations, or a primary anomaly of corneal epithelial adhesion are potential causes for the corneal defects. Photophobia is most likely due to corneal abnormalities.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0003-9950
pubmed:author
pubmed:issnType
Print
pubmed:volume
117
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
681-4
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
Ocular findings in ichthyosis follicularis, atrichia, and photophobia syndrome.
pubmed:affiliation
Department of Ophthalmology, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany. claus.cursiefen@augen.med.uni-erlangen.de
pubmed:publicationType
Journal Article, Case Reports