Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]
, 2015 Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz +5 more
core +18 more sources
Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome
PLoS ONE, 2016 We report molecular genetic analysis of 42 affected individuals referred with a diagnosis of aniridia who previously screened as negative for intragenic PAX6 mutations.
Kathleen A Williamson +2 more
exaly +3 more sources
Applicability of Electroretinography Measurements in Congenital PAX6-Related Aniridia. [PDF]
Invest Ophthalmol Vis SciZobor D +15 more
europepmc +2 more sources
Elevated anti-apoptotic shift in primary human aniridia limbal stromal cells following 48 hours supraphysiological glucose exposure, in vitro. [PDF]
PLoS OneLiu S +10 more
europepmc +2 more sources
Biomolecules, 2021 Congenital PAX6-aniridia is a rare panocular disease resulting from limbal stem cell deficiency. In PAX6-aniridia, the downregulation of the retinol-metabolizing enzymes ADH7 (All-trans-retinol dehydrogenase 7) and ALDH1A1/A3 (Retinal dehydrogenase 1 ...
Lorenz Latta +9 more
doaj +1 more source
Rapid Visualisation of Microarray Copy Number Data for the Detection of Structural Variations Linked to a Disease Phenotype [PDF]
, 2012 Whilst the majority of inherited diseases have been found to be caused by single base substitutions, small insertions or deletions (
Ali, M +10 more
core +14 more sources
A novel variant in PAX6 as the cause of aniridia in a Chinese family
BMC Ophthalmology, 2021 Background Aniridia is a kind of congenital human pan-ocular anomaly, which is related to PAX6 commonly. Methods The ophthalmic examinations including visual acuity, slit lamp and fundoscopy examination were performed in a Chinese aniridia pedigree.
X Jin, W Liu, LH Qv, WQ X, HB Huang
doaj +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 Practical Guide to Genetic Eye Conditions for Paediatricians. [PDF]
J Paediatr Child HealthABSTRACT 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.
Lin R +5 more
europepmc +2 more sources
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH. [PDF]
PLoS ONE, 2017 Chromosomal deletions at 11p13 are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, and of WAGR syndrome, accounting up to 30% of cases.
Fiona Blanco-Kelly +11 more
doaj +1 more source