Congenital aniridia – A comprehensive review of clinical features and therapeutic approaches

Abstract

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Clinical and molecular aspects of congenital aniridia – A review of current concepts

“…AAK is secondary to a breakdown of the limbal stem cell niche, impaired wound healing, and neural deterioration. [ 32 ] The clear central cornea is replaced with the mixed conjunctivo-corneal phenotype in the early grades of AAK and the conjunctival phenotype in the later grades. This manifests clinically as an invading pannus over the cornea.…”

“…The pro-inflammatory corneal surface is also enhanced by the presence of elevated inflammatory cytokines in the tear film. [ 32 ]…”

The regulatory landscape of neurite development in Caenorhabditis elegans

“…Similarly, many of the neurite development TFs in C. elegans have human orthologs, with ∼50% of them associated with mental or neurodegenerative disorders ( Table 4 ). Developmental defects in human neurons, particularly those related to eye disorders, such as Fuchs endothelial dystrophy, aniridia, and microphthalmia are linked to multiple TFs with a worm ortholog ( Verma and Fitzpatrick, 2007 ; Nanda and Alone, 2019 ; Landsend et al, 2021 ; Table 4 ). Further, central hypoventilation syndrome and pituitary hormone deficiency are due to defects in the nervous system development caused by mutations in human orthologs of HLH-3 and UNC-42 ( Correa et al, 2019 ; Trang et al, 2020 ; Table 4 ).…”

Genetic testing and diagnosis of inherited retinal diseases

“…This often produced a low diagnostic yield [ 7 ]. While traditional single-gene sequencing may be sufficient for diagnosing IRDs with mostly only one disease-associated gene identified, such as congenital anirdia ( PAX6 gene), systematic testing of single genes may be inefficient for diagnosing more complex IRDs that have a high degree of genetic heterogeneity, such as retinitis pigmentosa (> 100 identified causative genes) [ 2 , 7 , 8 , 12 , 19 , 29 ]. With the introduction of next-generation sequencing, testing multiple genes in a single assay has become possible [ 9 ].…”