Results 171 to 180 of about 7,292 (198)

[Congenital aniridia and cataract].

Oftalmologia (Bucharest, Romania : 1990), 1994
A 12-year-old patient presents aniridia, congenital cataract and nystagmus. The zonular cataract at both eyes has evolved at the right eye. Visual acuity at the right eye is very low (hand movement perception). The lens intracapsular removal at the right eye, with the resection of the hyaloid-capsular ligament, has improved the visual function at 1/6 ...
C, Stefan, C, Niculescu
openaire   +1 more source

Genetic background of congenital aniridia

Acta Ophthalmologica
Congenital aniridia is a complex disease, characterized mainly by iris and foveal hypoplasia, but patients show great clinical variability with overlapping of different anterior and posterior segment anomalies. More than 90% of patients carry heterozygous variants in the PAX6 gene, a highly conserved transcriptional regulator that plays a key role in ...
Alejandra Damian, Fiona Blanco‐Kelly, Alejandra Tamayo, Saoud T. Swafiri, Cristina Villaverde, Carolina Ruiz‐Sánchez, Kálmán Tory, Nóra Szentmáry, Carmen Ayuso, Marta Corton   +9 more
openaire   +1 more source

[Extraocular changes in congenital aniridia].

Ceskoslovenska oftalmologie, 1992
The authors draw attention to possible extraocular changes in children with congenital aniridia. Of 31 investigated patients they were found in 5 children. Among these changes, because of its serious character, Wilms tumour holds the first place; it was found by the authors in two children.
M, Odehnal, B, Brůnová, J, Krásný
openaire   +1 more source

Aniridia With Congenital Glaucoma

Journal of Pediatric Ophthalmology & Strabismus, 2008
Kayoung, Yi, Christopher J, Kelly, Paul R, Mitchell, Teresa C, Chen   +3 more
openaire   +2 more sources

[Congenital aniridia in children].

La Revue du praticien, 2019
Congenital aniridia in children. Congenital aniridia is a genetic rare disease that affects the entire eyeball (pan-ocular disease). The disease is characterized by partial or complete absence of iris. Clinical signs in children are essentially photophobia and nystagmus.
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ANIRIDIA 743.45 (Congenital Aniridia, Hereditary Aniridia)

2008
David Sellers Walton, Garyfallia Katsavounidou   +1 more
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Congenital aniridia – A comprehensive review of clinical features and therapeutic approaches

Survey of Ophthalmology, 2021
Erlend Christoffer Sommer Landsend, Neil S Lagali   +1 more
exaly  

Congenital aniridia in a pony

Journal of the American Veterinary Medical Association, 1985
N L, Irby, G D, Aguirre
openaire   +2 more sources

Abnormal neovascular and proliferative conjunctival phenotype in limbal stem cell deficiency is associated with altered microRNA and gene expression modulated by PAX6 mutational status in congenital aniridia

Ocular Surface, 2021
Berthold Seitz
exaly  

Congenital aniridia.

Revista de la Asociacion Medica Argentina, 2010
J, LIJO PAVIA, R, LACHMAN
openaire   +1 more source