Results 131 to 140 of about 246,741 (174)

Aniridia and congenital ptosis

Plastic and Reconstructive Surgery, 1975
Congential ptosis associated with aniridia was found in 3 patients from 2 pedigrees. Nonsurgical aphakia, a condition not previously reported in association with aniridia, was also found in one case. The association of aniridia and congenital ptosis is suggested as evidence for the common mesodermal etiology of both anomalies.
M B, Shields, J W, Reed
openaire   +2 more sources

PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation

Clinical Genetics, 2001
Congenital aniridia is due to deletions and point mutations in the PAX6 gene. We describe here a case of a mother and her two sons with a syndrome comprising congenital aniridia, ptosis, and slight mental retardation.
Alessandra Renieri, Veronica van Heyningen, Francesca Mari   +2 more
exaly   +2 more sources

Corneal Involvement in Congenital Aniridia

Cornea, 2010
The purpose of this research is 2-fold. First of all, the level of keratopathy development in patients with congenital aniridia is studied. In addition, a correlation between the effects of ocular surgery on the severity of keratopathy is made.A thorough search for the total number of patients with aniridia in Sweden and Norway was performed.
Ulla, Edén, Ruth, Riise, Kristina, Tornqvist   +2 more
openaire   +2 more sources

Crystalline lens alterations in congenital aniridia

Archivos de la Sociedad Española de Oftalmología (English Edition), 2021
Congenital aniridia is a rare genetic disease associated with mutations in the PAX6 gene. Changes in the lens in aniridia can be alterations of size and shape, of position - which generally reveal zonular weakness and determines subluxation of the lens - and mainly changes in transparency, cataracts, with variable morphology of polar, cortical ...
F, D'Oria, R, Barraquer, J L, Alio
openaire   +2 more sources

Clinical Manifestations of Congenital Aniridia

Journal of Pediatric Ophthalmology & Strabismus, 2014
Purpose: To study the various clinical manifestations associated with congenital aniridia in an Indian population. Methods: In this retrospective, consecutive, observational case series, all patients with the diagnosis of congenital aniridia seen at the institute from January 2005 ...
Bhupesh, Singh, Ashik, Mohamed, Sunita, Chaurasia, Muralidhar, Ramappa, Anil Kumar, Mandal, Subhadra, Jalali, Virender S, Sangwan   +6 more
openaire   +2 more sources

Immunohistochemical expression of epithelial cell markers in corneas with congenital aniridia and ocular cicatrizing pemphigoid

Acta Ophthalmologica, 2011
We investigated the immunohistochemical characteristics of corneal specimens in congenital aniridia and pemphigoid using various corneal markers to determine the status of the corneal ...
Claudia Auw-Hädrich, Thomas Reinhard, Helmut Erich Gabbert   +2 more
exaly   +2 more sources

The genetics of congenital aniridia—a guide for the ophthalmologist

Survey of Ophthalmology, 2018
Congenital aniridia is a rare panocular disease caused by fundamental disturbances in the development of the eye, characterized primarily by hypoplasia of the iris and macula. Severe secondary complications such as keratopathy, cataract, and glaucoma are common and often lead to considerable visual impairment or blindness.
Erlend S. Landsend, Øygunn A. Utheim, Hilde R. Pedersen, Neil Lagali, Rigmor C. Baraas, Tor P. Utheim   +5 more
openaire   +2 more sources

A Pathological Study of Nephroblastoma with Congenital Aniridia

Acta Pathologica Japonica, 1990
A pathological study was conducted on four patients with nephroblastoma associated with aniridia. The age at diagnosis was one year in three cases and 4 years in one case. Chromosomal analysis was performed in three cases, and showed 11p13 deletion in all. Each nephroblastoma consisted of metanephric blastemal, epithelial, and mesenchymal cells.
Y, Kobayashi, N, Nagahara
openaire   +2 more sources

[Congenital aniridia].

Oftalmologia (Bucharest, Romania : 1990), 2015
Aniridia is a rare congenital, hereditary, bilateral disease which is associated with various systemic and ocular defects. We present the case of a 61 year old patient who was admitted in the hospital of ophthalmology Cluj Napoca, for the symptoms caused by the ocular defects associated with aniridia.
Daria, Chiruţa, Cristina, Stan
openaire   +1 more source

[Genetics of congenital aniridia].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft, 2015
Mutations in the PAX6 gene mostly cause non-syndromic aniridia with autosomal dominant inheritance and familial occurrence. The underlying point mutations and deletions in the PAX6 locus cause loss-of-function of one gene copy (haploinsufficiency).
C, Neuhaus, C, Betz, C, Bergmann, H J, Bolz   +3 more
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