Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms

LM Reis, S Seese, D Costakos, EV Semina - Progress in Retinal and Eye …, 2024 - Elsevier
Development of the anterior segment of the eye requires reciprocal sequential interactions
between the arising tissues, facilitated by numerous genetic factors. Disruption of any of …

Zebrafish model in ophthalmology to study disease mechanism and drug discovery

Y Hong, Y Luo - Pharmaceuticals, 2021 - mdpi.com
Visual impairment and blindness are common and seriously affect people's work and quality
of life in the world. Therefore, the effective therapies for eye diseases are of high priority …

[HTML][HTML] Childhood and early onset glaucoma classification and genetic profile in a large Australasian disease registry

LSW Knight, JB Ruddle, DA Taranath, I Goldberg… - Ophthalmology, 2021 - Elsevier
Purpose To report the relative frequencies of childhood and early onset glaucoma subtypes
and their genetic findings in a large single cohort. Design Retrospective clinical and …

Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases

A Damián, G Núñez-Moreno, C Jubin, A Tamayo… - Human Genomics, 2023 - Springer
Background Haploinsufficiency of the transcription factor PAX6 is the main cause of
congenital aniridia, a genetic disorder characterized by iris and foveal hypoplasia. 11p13 …

Glaucoma syndromes: insights into glaucoma genetics and pathogenesis from monogenic syndromic disorders

DA Balikov, A Jacobson, L Prasov - Genes, 2021 - mdpi.com
Monogenic syndromic disorders frequently feature ocular manifestations, one of which is
glaucoma. In many cases, glaucoma in children may go undetected, especially in those that …

The molecular genetics of anterior segment dysgenesis

L Kuang, M Zhang, T Wang, T Huang, J Li… - Experimental Eye …, 2023 - Elsevier
Anterior segment dysgenesis is a severe developmental eye disorder that leads to blindness
in children. The exact mechanisms underlying this condition remain elusive. Recently, an …

Genetics and epidemiology of aniridia: Updated guidelines for genetic study

F Blanco-Kelly, M Tarilonte, M Villamar… - Archivos de la Sociedad …, 2021 - Elsevier
Aniridia is a panocular disease characterized by iris hypoplasia, accompanied by other
ocular manifestations, with a high clinical variability and overlapping with different …

Childhood glaucoma: Implications for genetic counselling

G Maxwell, E Souzeau - Clinical Genetics, 2024 - Wiley Online Library
Childhood glaucoma is a heterogeneous group of ocular disorders defined by an age of
onset from birth to 18 years. These vision‐threatening disorders require early diagnosis …

Genetics in primary congenital glaucoma: Implications in disease management and counseling

L Leysen, C Cassiman, S Vermeer, I Casteels… - European Journal of …, 2022 - Elsevier
Primary congenital glaucoma is an important cause of visual impairment in children. It can
develop both pre-and postnatally. Angle surgery is the first line treatment modality. If the …

Molecular characterization of thioester-containing proteins in Biomphalaria glabrata and their differential gene expression upon Schistosoma mansoni exposure

J Marquez, N Dinguirard, A Gonzalez… - Frontiers in …, 2022 - frontiersin.org
Schistosomiasis is a disease caused by trematode parasites of the genus Schistosoma that
affects approximately 200 million people worldwide. Schistosomiasis has been a persistent …