Abstract The Human Gene Mutation Database (HGMD®) constitutes a comprehensive
collection of published germline mutations in nuclear genes that underlie, or are closely …

Inherited retinal diseases (IRDs) are a clinically complex and heterogenous group of visual
impairment phenotypes caused by pathogenic variants in at least 277 nuclear and …

Retinitis pigmentosa (RP) is a heterogeneous group of hereditary diseases characterized by
progressive degeneration of retinal photoreceptors leading to progressive visual decline. It …

Purpose In a large cohort of molecularly characterized inherited retinal disease (IRD)
families, we investigated proportions with disease attributable to causative variants in each …

PURPOSE Accurate genoty** of individuals with inherited retinal diseases (IRD) is
essential for patient management and identifying suitable candidates for gene therapies …

Approximately 25-50 million Americans, 30 million Europeans, and 8% of the Australian
population have a rare disease. Rare diseases are thus a common problem for clinicians …

Optogenetics is a recent breakthrough in neuroscience, and one of the most promising
applications is the treatment of retinal degenerative diseases. Multiple clinical trials are …

Inherited retinal diseases (IRDs) cause visual loss due to dysfunction or progressive
degeneration of photoreceptors. These diseases show marked phenotypic and genetic …

Background The genetic profile of retinitis pigmentosa (RP) in East Asian populations has
not been well characterised. Therefore, we conducted a large-scale sequencing study to …

Major advances in the study of inherited retinal diseases (IRDs) have placed efforts to
develop treatments for these blinding conditions at the forefront of the emerging field of …