Results 161 to 170 of about 7,292 (198)

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
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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
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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
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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

[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
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[Familial congenital aniridia].

Oftalmologia (Bucharest, Romania : 1990), 1997
We have studied a family that has been presenting cases of congenital aniridia for three generations. A specific trace found in this family is the varied expression of the pathological gene as some members showed bilateral congenital aniridia, others showed unilateral aniridia with coloboma or just bilateral coloboma aspect.
I, Zolog, V, Belengeanu, S, Marinca, A, Soim   +3 more
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Genotype/phenotype association in Indian congenital aniridia

The Indian Journal of Pediatrics, 2009
The developmental birth eye disorder of iris is known as aniridia. Heterozygous PAX6 gene, which causes human aniridia and small eye in mice, is located on chromosome 11p13. The variability had been documented between the affected individuals within the families, is due to genotypic variation.
Guruswamy, Neethirajan, Abraham, Solomon, Subbaiah Ramasamy, Krishnadas, Perumalsamy, Vijayalakshmi, Periasamy, Sundaresan   +4 more
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[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
openaire   +1 more source

[Congenital aniridia keratopathy treatment].

Archivos de la Sociedad Espanola de Oftalmologia, 2006
To attempt to review the aniridia keratopathy pathogenesis and establish a treatment protocol according to the severity of the symptoms.Personal experience in aniridic keratopathy management and a bibliography review.The ocular manifestations of this anomaly include defects of the cornea, glaucoma, lens subluxation, cataracts, hypoplasia of the iris ...
J S, López-García, I, García-Lozano, L, Rivas, J, Martínez-Garchitorena   +3 more
openaire   +1 more source