Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype-Phenotype Correlations, and Inheritance Models

Frans P M Cremers, Camiel J F Boon, Kinga Bujakowska, Christina Zeitz, Frans P M Cremers, Camiel J F Boon, Kinga Bujakowska, Christina Zeitz

Abstract

Inherited retinal diseases (IRDs) are genetically and clinically heterogeneous disorders.[...].

Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Genetic heterogeneity among the six major non-syndromic inherited retinal diseases (IRDs). Numbers outside of the ellipses correspond to the number of non-syndromic IRD genes responsible for the specific disease, while numbers within the ellipses correspond either to disease-specific genes or to genes mutated in two or more diseases. The non-redundant total of genes associated with these non-syndromic IRDs is 146. RP: retinitis pigmentosa; LCA: Leber congenital amaurosis; CD/CRD: cone dystrophy/cone-rod dystrophy; CSNB: congenital stationary night blindness; MD: macular dystrophy; EVR: exudative vitreoretinopathy.

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