Skip to content

Research

A small study of severe variants of ABCA4 reports a new genotype–phenotype correlation with Early-Onset Severe Retinal Dystrophy (EOSRD).

Researchers at the Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands, have reported a limited study for three probands showing that biallelic… Read More »A small study of severe variants of ABCA4 reports a new genotype–phenotype correlation with Early-Onset Severe Retinal Dystrophy (EOSRD).

First genome-wide association study (GWAS) on reticular pseudodrusen (RPD) provides a clear relationship between RPD and the ARMS2-HTRA1 locus.

Researchers based in Moorfields Eye Hospital, NHS Foundation Trust, London, have presented the first genome-wide association study (GWAS) results involving reticular pseudodrusen (RPD). The study’s… Read More »First genome-wide association study (GWAS) on reticular pseudodrusen (RPD) provides a clear relationship between RPD and the ARMS2-HTRA1 locus.

A research survey is the first to evaluate patient perspectives and considerations regarding the application of AI in the diagnosis of IRDs.

Researchers at the University College London, Institute of Ophthalmology, and Moorfields Eye Hospital, NHS Foundation Trust, UK, reported a study indicating that large disparities of… Read More »A research survey is the first to evaluate patient perspectives and considerations regarding the application of AI in the diagnosis of IRDs.

Research provides new insight into how individual genotypes can influence phenotypic features in neuronal ceroid lipofuscinosis (NCL)-associated retinal disease.

Clinical researchers at the Department of Ophthalmology and Johnson Retina Centre, University of Washington, Seattle, have reported on the clinical characteristics, natural history, genetic landscape,… Read More »Research provides new insight into how individual genotypes can influence phenotypic features in neuronal ceroid lipofuscinosis (NCL)-associated retinal disease.