# 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

*PRI Rank #10 · Topics and Trends in Most Cited Retinal Diseases and Treatments Papers, Class of 2026*

*Canonical URL: https://pri.pepkio.com/top-papers/retinal-diseases-and-treatments/2026/rank-10*

| Field | Value |
| --- | --- |
| Rank | #10 |
| 18m citations | 64 |
| Journal | Progress in Retinal and Eye Research |
| Year | 2024 |
| DOI | 10.1016/j.preteyeres.2024.101244 |
| Corresponding authors | Michel Michaelides |
| Institution | Moorfields Eye Hospital, United Kingdom |

**Ranking page:** [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)

**Paper link:** [10.1016/j.preteyeres.2024.101244](https://doi.org/10.1016/j.preteyeres.2024.101244)

## Topics

macular dystrophies · cone dystrophies · cone-rod dystrophies · rod-cone dystrophies · Leber congenital amaurosis · cone dysfunction syndromes · Inherited retinal degeneration · genotype-phenotype correlation · Retinal imaging · gene therapy for retinal disease · Optical coherence tomography · Fundus autofluorescence imaging · Electroretinography · next-generation sequencing · Inherited retinal degeneration · Inherited retinal degeneration · Stargardt disease · ABCA4 gene · RPE65 gene · achromatopsia

## Cite this ranking

```
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 2026-07-14.

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
```