Further Genetic and Clinical Insights of Posterior Polymorphous Corneal Dystrophy 3

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F13%3A10193313" target="_blank" >RIV/00064165:_____/13:10193313 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/13:10193313

Result on the web

<a href="http://dx.doi.org/10.1001/jamaophthalmol.2013.405" target="_blank" >http://dx.doi.org/10.1001/jamaophthalmol.2013.405</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1001/jamaophthalmol.2013.405" target="_blank" >10.1001/jamaophthalmol.2013.405</a>

Result language

angličtina

Original language name

Further Genetic and Clinical Insights of Posterior Polymorphous Corneal Dystrophy 3

Original language description

The following 2 novel frameshift mutations within ZEB1 were identified: c.2617dup in exon 8 in a 22-year-old woman, considered to be most likely de novo in origin, and c.698dup in exon 6 in a 20-year-old man. The first patient had mild changes consistentwith PPCD and bilateral best-corrected visual acuity of 1.00. The corneal phenotype of the patient in the second case was more severe, with best-corrected visual acuity of 0.40 OD and 0.05 OS. Corneas of both probands were abnormally steep (keratometryreadings, flat }= 47.4 diopters [D] and steep }= 49.2 D) with increased pachymetry values but no pattern indicative of keratoconus. Specular microscopy in both patients revealed reduced endothelial cell density (range, 1055/mm(2) to 1655/mm(2)). Both probands had a history of surgery for inguinal hernia; the male patient also reported hydrocele. CONCLUSIONS AND RELEVANCE Nucleotide changes within the coding region of ZEB1 underlie the pathogenesis of PPCD in 4 of 23 Czech probands (17%).

Czech name

—

Czech description

—

Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FF - ENT (ie. ear, nose, throat), ophthalmology, dentistry

OECD FORD branch

—

Project

<a href="/en/project/GPP301%2F12%2FP591" target="_blank" >GPP301/12/P591: Identification and characterization of a novel gene causing corneal endothelial dystrophies</a><br>

Continuities

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year

2013

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

JAMA Ophthalmology

ISSN

2168-6165

e-ISSN

—

Volume of the periodical

131

Issue of the periodical within the volume

10

Country of publishing house

US - UNITED STATES

Number of pages

8

Pages from-to

1296-1303

UT code for WoS article

000325483400010

EID of the result in the Scopus database

—