Inherited retinal diseases (IRDs) encompass a variety of disease phenotypes and are known
to display both clinical and genetic heterogeneity. A further complexity is that for several IRD …

The vertebrate retina is made up of six specialized neuronal cell types and one glia that are
generated from a common retinal progenitor. The development of these distinct cell types is …

Occult macular dystrophy (OMD) is the most prevalent form of macular dystrophy in East
Asia. Beyond RP1L1, causative genes and mechanisms remain largely uncharacterised …

This study aimed to investigate the clinical characteristics of Korean patients with retinal
dystrophy associated with pathogenic variants of cone rod homeobox-containing gene …

Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the
central region of the retina. To investigate the genetic basis of iMDs, we used single …

Purpose To describe phenotypic, genotypic, and histopathological features of inherited
retinal dystrophies associated with the CRX gene (CRX-RDs). Design Retrospective …

Background Variants in CRX are associated with dominantly inherited retinopathy with
considerable phenotypic variability. Many patients have central retinal degeneration; in …

Of all the degenerative disorders that affect the macula and the retinal periphery, age-related
macular degeneration (AMD) is the commonest cause of visual disability in older adults …

TO THE EDITOR: In the study investigating cone-rod homeobox (CRX)-associated macular
degeneration, Yahya et al 1 identify patients in whom a complete loss of function of 1 copy of …

Inherited retinal diseases (IRDs) are a group of genetically and phenotypically
heterogenous disorders caused by variants in around 280 genes. Additional loci have also …