Results 81 to 90 of about 5,544 (177)

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

Data set for reporting paediatric renal tumours: recommendations from the international collaboration on cancer reporting (ICCR)

Histopathology, Volume 87, Issue 2, Page 183-196, August 2025.
This is the first international data set, to our knowledge, produced by the International Collaboration on Cancer Reporting (ICCR) for the reporting of resection specimens of paediatric renal tumours with the aim of standardising pathology reports, facilitating international data comparisons and improving patient management globally.
E J Perlman, F Webster, K T E Chang, A Coulomb, L Galluzzo, N S Graf, E A Mullen, H Okita, M J O'Sullivan, G R Somers, A Treece, M Cohen, M Reyes‐Múgica   +12 more
wiley   +1 more source

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

Gene Dosage Sensitivity and Human Genetic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Here we review the historical background and contemporary insights into genetic dominance, focusing on haploinsufficiency (HI), that is, when the function of only one allele of a gene is not enough to ensure a normal phenotype in a diploid organism.
Reiner A. Veitia, Johannes Zschocke, James A. Birchler   +2 more
wiley   +1 more source

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

A novel deletion downstream of the PAX6 gene identified in a Chinese family with congenital aniridia

, 2018
Purpose: Congenital aniridia, a severe bilateral panocular visual disorder, is an autosomal dominantly inherited eye anomaly. Mutations in the paired box 6 gene (PAX6) have been shown to be responsible for congenital aniridia in most patients.
Xianjun Zhu (144118), Shi Ma (217876), Lejin Wang (5395808), Zequn Miao (5395811), Yi Shi (169113), He Lin (217878), Xiaoqi Liu (45630), Lulin Huang (256539), Bo Gong (217867), Yaqi Wu (4455664), Fang Hao (535483), Houbin Zhang (5395805), Zhenglin Yang (24489)   +12 more
core   +1 more source

Bilateral aniridia and congenital ureteral valve: Role of genetic testing

, 2020
Background Congenital aniridia involves total or partial hypoplasia of the iris and is due to a deficiency in PAX6 gene expression. WAGR syndrome is comprised of Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability.
Dennis S. Peppas, Eran Rosenberg, Lisa B. E. Shields   +2 more
core   +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

Buphthalmos with Aniridia in a Nigerian Child. A Case Report

, 2009
This report presents a rare case of buphthalmos with aniridia in a six year old Nigerian boy who presented with bilateral large eyeballs from birth with associated loss of vision.
Ajibode, HA, Otulana, TO, TO Otulana, HA Ajibode   +3 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