Results 131 to 140 of about 5,544 (177)

Crystalline lens alterations in congenital aniridia

Archivos De La Sociedad Espanola De Oftalmologia, 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 ...
J L Alio
exaly   +3 more sources

Analysis of protein composition and protein expression in the tear fluid of patients with congenital aniridia

Journal of Proteomics, 2013
Aniridia is a rare congenital genetic disorder caused by haploinsuffiency of the PAX6 gene, the master gene for development of the eye. The expression of tear proteins in aniridia is unknown.
Robert Ihnatko, Neil Lagali, Per Fagerholm   +2 more
exaly   +3 more sources

Combined cataract phacoemulsification and aniridia endocapsular rings implantation in a patient with bilateral congenital aniridia and cataract: A case report

Saudi Journal of Ophthalmology, 2016
The objective of this article was to determine the long-term outcome of surgical treatment in a patient with bilateral congenital aniridia and congenital cataracts.
Roberto Gonzalez-Salinas
exaly   +2 more sources

Macular involvement in congenital aniridia

Archivos de la Sociedad Española de Oftalmología (English Edition), 2021
This review updates the knowledge about the morphological assessment of the foveal hypoplasia in congenital aniridia and resumes the reported genotype-phenotype correlations known to date. Congenital aniridia is a pan ocular disease. Although iris absence is considered the hallmark of this entity, foveal hypoplasia is present in 94.7%-84% of patients ...
P, Casas-Llera, D, Ruiz-Casas, J L, Alió   +2 more
openaire   +2 more sources

PAX6mutation 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.
A Malandrini, Francesca Mari, S Gambelli   +2 more
exaly   +2 more sources

Congenital aniridia

Acta Ophthalmologica Scandinavica, 2007
Abstract Purpose: Our purpose was to analyze the various ocular manifestations, treatment options, and the possible outcome of congenital aniridia (CA) a rare and severe developmental disorder. Methods: 52 eyes of 26 patients were regularly checked with full eye examination including anterior segment photography.
M POPPER, M BAUSZ, E TURI, K SENYI, K KNEZY, I SUVEGES   +5 more
openaire   +3 more sources

Keratopathy in Congenital Aniridia

The Ocular Surface, 2003
Although the most apparent clinical finding in aniridia is the absence of iris tissue, additional ocular structures are often affected. Mutations of the Pax 6 gene, which is important for eye development, have been identified in families with members affected by aniridia.
Kristine L, Mayer, Michael L, Nordlund, Gary S, Schwartz, Edward J, Holland   +3 more
openaire   +2 more sources

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

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

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