Locus heterogeneity occurs when mutations at multiple genomic loci are capable of producing the same phenotype (ie.
[3] Locus heterogeneity may have major implications for a number of human diseases.
For instance, it has been associated with retinitis pigmentosa,[4] hypertrophic cardiomyopathy,[5] osteogenesis imperfecta,[6] familial hypercholesterolemia,[7] and hearing loss.
[8] Heterogenous loci involved in formation of the same phenotype often contribute to similar biological pathways.
[9][10][11] Retinitis pigmentosa is a condition that causes damage to the light-sensitive cells of the retina.