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
Most Cited Paper
in Retinal Diseases and Treatments
18 Months Post-Publication
Class of 2026
“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”
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Topics
Inherited retinal degeneration · macular dystrophies · cone dystrophies · cone-rod dystrophies · rod-cone dystrophies · Leber congenital amaurosis · cone dysfunction syndromes · phenotyping · genotyping · molecular genetics · retinal imaging · gene therapy · Photoreceptor degeneration · electroretinography · Optical coherence tomography · fundus autofluorescence · retinal gene mutations · Visual function · retinal therapeutics
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Pepkio Research Index (PRI). Topics and Trends in Most Cited Retinal Diseases and Treatments Papers, Class of 2026. https://pri.pepkio.com/top-papers/retinal-diseases-and-treatments/2026. Accessed 2026-08-20. Methodology Zheng Su, Tinsley Li, Thematic Shifts in Early-High-Impact Cancer Genomics and Diagnostics Research: A Bibliometric and Semantic Analysis. bioRxiv 2026.07.04.736459; doi: https://doi.org/10.64898/2026.07.04.736459