Results 141 to 150 of about 5,544 (177)

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

The Effect of Lens Properties on Visual Acuity, Aniridia Associated Keratopathy and Secondary Glaucoma in Congenital Aniridia Subjects

Current Eye Research
PurposeThe potential risks and benefits of cataract surgery, in context of congenital aniridia (CA), are not widely understood, yet. Our purpose was to investigate the effect of lens properties on visual acuity (VA), aniridia-associated keratopathy (AAK)
Annamaria Naray, Fabian N Fries, Maria Csidey   +2 more
exaly   +2 more sources

[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

[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
openaire   +1 more source

[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

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 a pony

Journal of the American Veterinary Medical Association, 1985
N L, Irby, G D, Aguirre
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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