Susceptibility loci CNVs with incomplete penetrance accurate diagnosis with uncertain prognosis [PDF]
, 2019 Chromosomal microarray analysis (CMA) is the first-tier test for developmental delay, autism spectrum disorders, and congenital abnormalities in postnatal diagnosis and for ultrasound abnormalities in prenatal diagnosis.
Correia, Hildeberto +2 more
core +1 more source
Clinical and molecular aspects of congenital aniridia – A review of current concepts
Indian Journal of Ophthalmology, 2022 Congenital aniridia is a pan ocular disorder characterized by partial or total loss of iris tissue as the defining feature. Classic aniridia, however, has a spectrum of ocular findings, including foveal hypoplasia, optic nerve hypoplasia, nystagmus, late-
Shailja Tibrewal +9 more
doaj +1 more source
Diadenosine polyphosphates in the tears of aniridia patients [PDF]
, 2015 Purpose To quantify diadenosine polyphosphate levels in tears of congenital aniridia patients to estimate the ocular surface changes associated with congenital aniridia compared to normal individuals. Methods Fifteen patients diagnosed with congenital
Carracedo Rodríguez, Juan Gonzalo +2 more
core +1 more source
A nonsense mutation in a family with congenital aniridia [PDF]
Korean Journal of Pediatrics, 2016 Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6), which is an ...
Kyoung Hee Han +4 more
doaj +1 more source
PAX6 disease models for aniridia
Indian Journal of Ophthalmology, 2022 Aniridia is a pan-ocular genetic developmental eye disorder characterized by complete or partial iris and foveal hypoplasia, for which there is no treatment currently.
Dorsa Abdolkarimi +3 more
doaj +1 more source
A review of the role of ultrasound biomicroscopy in glaucoma associated with rare diseases of the anterior segment [PDF]
, 2016 Ultrasound biomicroscopy is a non-invasive imaging technique, which allows high-resolution evaluation of the anatomical features of the anterior segment of the eye regardless of optical media transparency.
Abdolrahimzadeh, B +5 more
core +2 more sources
A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD
BMC Medical Genomics, 2023 Background The genotype characteristics and their associated clinical phenotypes in patients with aniridia were analyzed to explore pathogenic variants using whole-exome sequencing.
Qian Wang +3 more
doaj +1 more source
Novel clinical presentation and PAX6 mutation in families with congenital aniridia
Frontiers in Medicine, 2022 PurposeTo explore the clinical phenotype and genetic defects of families with congenital aniridia.MethodsFour Chinese families with aniridia were enrolled in this study. The detailed ocular presentations of the patients were recorded.
Ruru Guo +5 more
doaj +1 more source
Docosahexaenoic acid promotes photoreceptor differentiation without altering Crx expression [PDF]
, 2006 PURPOSE: The precise molecular cues required for photoreceptor development are still unknown. Pax6 and Crx are essential during early retinal development and for photoreceptor differentiation, respectively.
Garelli, Andres +2 more
core +2 more sources
A rare missense PAX6 mutation causes atypical aniridia in a three-generation Chinese family [PDF]
International Journal of OphthalmologyAIM: To investigate the molecular diagnosis of a three-generation Chinese family affected with aniridia, and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.
Zhi-Bo Lin +6 more
doaj +1 more source