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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   +3 more
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[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
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Aniridia With Congenital Glaucoma

Journal of Pediatric Ophthalmology & Strabismus, 2008
Kayoung, Yi   +3 more
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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   +9 more
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[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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Abnormalities of ERG in congenital aniridia.

Yan ke xue bao = Eye science, 1992
Congenital aniridia is generally associated with nystagmus, corneal pannus, cataract, ectopia lentis, glaucoma, macular hypoplasia, optic nerve hypoplasia and compromised visual function. Many theories have been proposed, including a failure in the development of the neural ectoderm and/or an aberrant development of mesoderm.
L, Wu, Q, Ma, Y, Chen, D Z, Wu, T, Luo
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Management of Glaucoma in Congenital Aniridia

2015
Glaucoma in aniridia usually develops during childhood, due to either open- or closed-angle mechanisms. In our study of Aniridia Foundation International (AFI) members, approximately half of the subjects developed glaucoma, with glaucoma diagnosis at average age 13.6 years and median age 8.5 years.
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[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
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Wilms' Tumor and Congenital Aniridia

JAMA: The Journal of the American Medical Association, 1968
Among 28 children under 4 years of age hospitalized with congenital aniridia, Wilms' tumor subsequently developed in six and one had the neoplasm on admission. Five of these seven patients have not, to our knowledge, been reported previously, bringing to 22 the total number of cases known with this association.
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