Results 81 to 90 of about 246,741 (174)

Identification of Genetic Variants Causing Paediatric Cataract in Myanmar

Clinical Genetics, Volume 108, Issue 4, Page 457-462, October 2025.
Up to 60% of children with cataract in Myanmar have a causative variant in a known cataract gene. This is a similar rate to other populations screened to date, but highlights that there are more cataract genes left to identify. ABSTRACT Genetic testing for paediatric cataract detects a cause in 50%–70% of affected children but is as low as 20% in some ...
Johanna L. Jones, Daisy Boardman, Khine Nweni, Franoli Edo, Isabelly M. Barros de Lima, Pakdhipat Lertsinpakdee, Soe Hlaing, Robert Casson, Ashwin Mallipatna, Ye Win, Bennet McComish, Naing Lin, James Muecke, Andy Griffiths, Martin Holmes, Than Htun Aung, Kathryn P. Burdon   +16 more
wiley   +1 more source

A Practical Guide to Genetic Eye Conditions for Paediatricians

Journal of Paediatrics and Child Health, Volume 61, Issue 10, Page 1538-1548, October 2025.
ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin, Alan Ma, Benjamin M. Nash, Zachary McPherson, John R. Grigg, Robyn V. Jamieson   +5 more
wiley   +1 more source

Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia

Frontiers in Genetics, 2018
Mutations in PAX6 are involved in several developmental eye disorders. These disorders have considerable phenotypic variability, ranging from panocular forms of congenital aniridia and microphthalmia to isolated anomalies of the anterior or posterior ...
María Tarilonte, Matías Morín, Matías Morín, Patricia Ramos, Marta Galdós, Fiona Blanco-Kelly, Fiona Blanco-Kelly, Cristina Villaverde, Cristina Villaverde, Dolores Rey-Zamora, Gema Rebolleda, Francisco J. Muñoz-Negrete, Saoud Tahsin-Swafiri, Saoud Tahsin-Swafiri, Blanca Gener, Blanca Gener, Miguel-Angel Moreno-Pelayo, Miguel-Angel Moreno-Pelayo, Carmen Ayuso, Carmen Ayuso, Manuela Villamar, Manuela Villamar, Marta Corton, Marta Corton   +23 more
doaj   +1 more source

Familial Congenital Aniridia with Subluxated Lens and Glaucoma

, 2023
Introduction: Congenital aniridia is a bilateral iris aplasia or hypoplasia associated with other ocular disorders. The purpose of this case report is to describe the clinical manifestation of congenital aniridia in two members of one family.
Hermawan, Dicky, Perwitasari, Birgitta Henny   +1 more
core  

A Clinical and Genetic Review of Aniridia

Journal of Pediatrics Review, 2015
Aniridia is a congenital pan-ocular, bilateral disorder. The term aniridia is a misleading misnomer, since at least a rudimentary iris is always present. Varied forms range from almost total absence to only mild hypoplasia of the iris.
Reza Jafari, Ahmad Ahmadzadeh Amiri
doaj   +2 more sources

Implantation of the black diaphragm intraocular lens in congenital and traumatic aniridia.

, 2008
OBJECTIVE: To evaluate the biometry accuracy, visual outcomes, and long-term changes in intraocular pressure after implantation of the black diaphragm intraocular (BDI) lens in cases of aniridia.
Maclaren, Robert, Aslam, SA, Wong, SC, Ficker, LA, Maclaren, RE   +4 more
core   +1 more source

Aniridia-related keratopathy : structural changes in naïve and transplanted corneal buttons [PDF]

, 2018
Background: To study structural changes in naive and surgically treated corneas of aniridia patients with advanced aniridia-related keratopathy (ARK).
André Vicente, Vicente, André,, Domellof, F. P., Stenevi, Ulf,, Lindström, Mona,, Mona Lindström (5368277), Fátima Pedrosa Domellöf (5368271), Pedrosa Domellöf, Fatima,, Vicente, A., Bystrom, B., Lindström, Mona, Ulf Stenevi, Pedrosa Domellöf, Fatima, Berit Byström (775753), Mona Lindström, Lindstrom, M., Stenevi, Ulf, Byström, Berit, Berit Byström, Fátima Pedrosa Domellöf, Ulf Stenevi (5368274), Vicente, André, Byström, Berit,, André Vicente (1383480)   +23 more
core   +1 more source

Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel PAX6 Mutation

Journal of Ophthalmology, 2018
Aniridia is a congenital disease that affects almost all eye structures and is primarily caused by loss-of-function mutations in the PAX6 gene. The degree of vision loss in aniridia varies and is dependent on the extent of foveal, iris, and optic nerve ...
Grace M. Wang, Lev Prasov, Hayder Al-Hasani, Colin E. R. Marrs, Sahil Tolia, Laurel Wiinikka-Buesser, Julia E. Richards, Brenda L. Bohnsack   +7 more
doaj   +1 more source

Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family

Indian Journal of Ophthalmology, 2018
Purpose: This study aimed to characterize an Asian Indian aniridia family for both the phenotype and genotype of the disease for a better clinical management.
Isham Palayil, S G Priya, N V Sarath Sivan, Nivean Madhivanan, Panneer Selvam Venkatachalam, Madhavan Jagadeesan   +5 more
doaj   +1 more source

Aniridia, Gonadoblastoma, Wilms' Tumor and Deletion 11p13

Acta Medica, 1998
An incidence of bilateral gonadoblastoma in a 23-month old, mentally retarded boy with congenital sporadic aniridia, undescended dysgenetic testes, deletion of a chromosome (11) (p1302p14.2) and a later occurring unilateral Wilms' tumor is reported.
Hvězdoslav Stefan, Vladimír Semecký
doaj   +1 more source