Comprehensive review of inherited retinal diseases
Reviewed by Zhihang Cheng

The authors offer an up-to-date review of inherited retinal diseases (IRDs). In each section the authors discuss the molecular basis of disease, genotype and clinical manifestation. They also discuss the investigation findings and current evidence in the treatment of the condition; (1) macular dystrophies, (2) cone and cone-rod dystrophies, (3) predominant rod or rod-cone dystrophies, (4) Leber congenital amaurosis / early onset severe retinal dystrophy (5) cone dysfunction syndromes. Although the authors presented the conditions in the classical phenotypic groupings, they have highlighted the heterogeneity of IRDs and variable expressivity, with several of the genes associated with a range of phenotypes.

Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.
Georgiou M, Robson AG, Fujinami K, et al.
PROGRESS IN RETINAL AND EYE RESEARCH
2024;100:101244.