X-linked retinopathies represent a significant proportion of monogenic retinal disease. They
include progressive and stationary conditions, with and without syndromic features. Many …

Inherited retinal diseases (IRDs) are a group of heterogeneous conditions that cause
progressive vision loss, typically due to monogenic mutations. Female carriers of X-linked …

Inherited retinal diseases (IRDs) are a heterogenous group of orphan eye diseases that
typically result from monogenic mutations and are considered attractive targets for gene …

Anderson-Fabry disease is an X-linked inborn error of glycosphingolipid catabolism caused
by a deficiency of α-galactosidase A. The incidence ranges between 1: 40,000 and 1 …

Inherited retinal diseases (IRDs) are a group of ocular conditions characterized by an
elevated genetic and clinical heterogeneity. They are transmitted almost invariantly as …

X-linked genetic disorders typically affect females less severely than males owing to the
presence of a second X Chromosome not carrying the deleterious variant. However, the …

Inherited retinal diseases (IRDs) represent a collection of phenotypically and genetically
diverse conditions. IRDs phenotype (s) can be isolated to the eye or can involve multiple …

Introduction Mutations in the RPGR gene are responsible for one of the most prevalent and
severe types of retinitis pigmentosa. Gene therapy has shown great promise to treat …

X-chromosome inactivation (XCI) analyses often assist in diagnostics of X-linked traits,
however accurate assessment remains challenging with current methods. We developed a …

This is a brief history of the work by many investigators throughout the world to find genes
and mutations causing inherited retinal diseases (IRDs). It largely covers 40 years, from the …