Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance.

Inherited retinal diseases (IRDs) are a diverse and variable group of rare human disorders. A large portion of the variability in phenotypic presentation associated with IRDs can be attributed to the specific gene carrying the disease-causing variation. The authors go on to demonstrate that variants in IRD genes may be modulated by the impact of other factors that alter the expression levels of these IRD genes. For example, their analyses show that 125 unique genomic variants are described in a disease database for I PRPF31 i , a gene known as a cause of autosomal dominant retinitis pigmentosa [[16]]. [Extracted from the article]