[HTML][HTML] Cell fate decisions, transcription factors and signaling during early retinal development

R Diacou, P Nandigrami, A Fiser, W Liu… - Progress in retinal and …, 2022 - Elsevier
The development of the vertebrate eyes is a complex process starting from anterior-posterior
and dorso-ventral patterning of the anterior neural tube, resulting in the formation of the eye …

Ocular coloboma: Genetic variants reveal a dynamic model of eye development

KH Yoon, SC Fox, R Dicipulo… - American Journal of …, 2020 - Wiley Online Library
Ocular coloboma is a congenital disorder of the eye where a gap exists in the inferior retina,
lens, iris, or optic nerve tissue. With a prevalence of 2–19 per 100,000 live births, coloboma …

Prevalence of Congenital Ocular Anomalies in 15 Countries of Europe: Results From the Medikeye Study

C Dubucs, A Caillet, F Frémont, L Delteil… - Birth Defects …, 2024 - Wiley Online Library
Background Congenital ocular anomalies (COA) are among the most common causes of
visual impairment in children in high‐income countries. The aim of the study is to describe …

Syndromic hearing loss in children

M Lewis, CD Robson, DA Felice - Neuroimaging …, 2023 - neuroimaging.theclinics.com
The estimated prevalence of permanent bilateral hearing loss (HL) in children is 1.33 per
1000 live births, increasing to 3.5 per 1000 adolescents, presumably reflecting additional …

Evaluation of baseline optic disc pit and optic disc coloboma maculopathy features by spectral domain optical coherence tomography

V Prabhu, R Mangla, I Acharya, A Handa… - International Journal of …, 2023 - Springer
Purpose The aim of this study is to describe and compare the baseline demographic, ocular,
and imaging characteristics of a cohort of patients with optic disc pit (ODP) or optic disc …

Closing the Gap: Mechanisms of Epithelial Fusion During Optic Fissure Closure

BHC Chan, M Moosajee, J Rainger - Frontiers in cell and …, 2021 - frontiersin.org
A key embryonic process that occurs early in ocular development is optic fissure closure
(OFC). This fusion process closes the ventral optic fissure and completes the circumferential …

[HTML][HTML] Report on the 2021 Aniridia North America symposium on PAX6, aniridia, and beyond

RM Grainger, JD Lauderdale, JL Collins, KL Trout… - The Ocular Surface, 2023 - Elsevier
Abstract The inaugural Aniridia North America (ANA) Symposium was held on the first
weekend in November 2021 in Charlottesville, VA, at the University of Virginia. The purpose …

Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans

V Cortés-González, M Rodriguez-Morales, P Ataliotis… - Human Genetics, 2024 - Springer
Ocular coloboma (OC) is a congenital disorder caused by the incomplete closure of the
embryonic ocular fissure. OC can present as a simple anomaly or, in more complex forms …

Age and light damage influence Fzd5 regulation of ocular growth-related genes

S Peng, M Guo, C Wu, J Liu, B Zou, Y Chen… - Experimental Eye …, 2024 - Elsevier
Genetic and environmental factors can independently or coordinatively drive ocular axis
growth. Mutations in FRIZZLED5 (FZD5) have been associated with microphthalmia …

Neuroimaging of Ocular Abnormalities in Children

B Aygun, A Biswas, A Taranath… - Neuroimaging …, 2023 - neuroimaging.theclinics.com
This article deals with congenital lesions involving the pediatric globe. A sizable proportion
of children with ocular lesions present with leukocoria, that is, loss of the normal red reflex …