[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 …

[HTML][HTML] Congenital aniridia beyond black eyes: from phenotype and novel genetic mechanisms to innovative therapeutic approaches

A Daruich, M Duncan, MP Robert, N Lagali… - Progress in retinal and …, 2023 - Elsevier
Congenital PAX6-aniridia, initially characterized by the absence of the iris, has progressively
been shown to be associated with other developmental ocular abnormalities and systemic …

Eye development and retinogenesis

W Heavner, L Pevny - Cold Spring Harbor perspectives …, 2012 - cshperspectives.cshlp.org
Three embryonic tissue sources—the neural ectoderm, the surface ectoderm, and the
periocular mesenchyme—contribute to the formation of the mammalian eye. For this reason …

[HTML][HTML] LNP-mediated delivery of CRISPR RNP for wide-spread in vivo genome editing in mouse cornea

SZM Mohanna, D Djaksigulova, AM Hill… - Journal of Controlled …, 2022 - Elsevier
Abstract CRISPR/Cas9-based genome-editing therapies are poised to change the clinical
outcome for many diseases with validated therapeutic targets awaiting an appropriate …

Pax6: a multi-level regulator of ocular development

O Shaham, Y Menuchin, C Farhy… - Progress in retinal and …, 2012 - Elsevier
Eye development has been a paradigm for the study of organogenesis, from the
demonstration of lens induction through epithelial tissue morphogenesis, to neuronal …

Genetics of human iris colour and patterns

RA Sturm, M Larsson - Pigment cell & melanoma research, 2009 - Wiley Online Library
The presence of melanin pigment within the iris is responsible for the visual impression of
human eye colouration with complex patterns also evident in this tissue, including Fuchs' …

Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia

S Bhatia, H Bengani, M Fish, A Brown… - The American Journal of …, 2013 - cell.com
The strictly regulated expression of most pleiotropic developmental control genes is critically
dependent on the activity of long-range cis-regulatory elements. This was revealed by the …

Pathophysiology of aniridia-associated keratopathy: Developmental aspects and unanswered questions

L Latta, FC Figueiredo, R Ashery-Padan, JM Collinson… - The ocular …, 2021 - Elsevier
Aniridia, a rare congenital disease, is often characterized by a progressive, pronounced
limbal insufficiency and ocular surface pathology termed aniridia-associated keratopathy …

Eye organogenesis: a hierarchical view of ocular development

JB Miesfeld, NL Brown - Current topics in developmental biology, 2019 - Elsevier
This chapter provides an overview of the early developmental origins of six ocular tissues:
the cornea, lens, ciliary body, iris, neural retina, and retina pigment epithelium. Many of …

Primary congenital and developmental glaucomas

CJ Lewis, A Hedberg-Buenz, AP DeLuca… - Human molecular …, 2017 - academic.oup.com
Glaucoma is the leading cause of irreversible blindness worldwide. Although most
glaucoma patients are elderly, congenital glaucoma and glaucomas of childhood are also …