Intrastromal keratopigmentation for photophobia secondary to traumatic aniridia
American Journal of Ophthalmology Case Reports, 2022 Purpose To present a case of therapeutic intrastromal keratopigmentation to resolve intractable photophobia secondary to traumatic aniridia in a hypotonus eye.
Jonathan Chao +2 more
openalex +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
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
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
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
Future directions in managing aniridia-associated keratopathy.
Survey of ophthalmology, 2023 Congenital aniridia is a panocular disorder that is typically characterized by iris hypoplasia and aniridia-associated keratopathy (AAK). AAK results in the progressive loss of corneal transparency and thereby loss of vision.
Arianne J H van Velthoven +18 more
semanticscholar +1 more source
Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases
Human Genomics, 2023 Background Haploinsufficiency of the transcription factor PAX6 is the main cause of congenital aniridia, a genetic disorder characterized by iris and foveal hypoplasia.
Alejandra Damián +12 more
semanticscholar +1 more source
Congenital Aniridia - A Comprehensive Review of Clinical Features and Therapeutic Approach.
Survey of ophthalmology, 2021 Congenital aniridia is a rare genetic eye disorder with total or partial absence of the iris from birth. In most cases the genetic origin of aniridia is a mutation in the PAX6 gene, leading to involvement of most eye structures.
E. Landsend, N. Lagali, T. Utheim
semanticscholar +1 more source