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

Pathogenic variants in pre-messenger RNA (pre-mRNA) splicing factor 31, PRPF31, are the
second most common genetic cause of autosomal dominant retinitis pigmentosa (adRP) in …

Retinitis pigmentosa (RP) is an inherited degenerative disease causing severe retinal
dystrophy and visual impairment mainly with onset in infancy or adolescence. Targeted next …

Purpose The purpose of our study was to assess the phenotypic and genotypic spectrum in
a large cohort of patients with PRPF31-associated retinal dystrophy. Design Retrospective …

Retinoblastoma (RB) is an inherited retinal disorder (IRD) caused by the mutation in the RB1
gene or, rarely, by alterations in the MYCN gene. In recent years, new treatment advances …

The purpose of this study was to develop a flexible, cost-efficient, next-generation
sequencing (NGS) protocol for genetic testing. Long-range polymerase chain reaction …

The use of whole exome sequencing (WES) in medical research is increasing in South
Africa (SA), raising important questions about whether and which individual genetic …

Purpose To analyze the clinical characteristics, natural history, and genetics of CERKL-
associated retinal dystrophy in the largest series to date. Design Multicenter retrospective …

Purpose To identify the genetic cause of and describe the phenotype in 4 families with
autosomal recessive retinitis pigmentosa (arRP) that can be associated with …

Despite major progress in the discovery of causative genes, many individuals and families
with inherited retinal degenerations (IRDs) remain without a molecular diagnosis. We …