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Features include common findings: Retinal neovascularization, Color vision defect, Macular drusen, and Hyperautofluorescent macular lesion and others; and sometimes findings: Central scotoma. 8 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 5 | Retinal neovascularization, Color vision defect, Macular drusen |
Biomarker and diagnostic research for macular dystrophy, retinal, 3 has been reported in the published literature.
Phenotype severity distribution: 6 common features.
No clinical trials have been registered for macular dystrophy, retinal, 3.
276 publications have been identified in PubMed for macular dystrophy, retinal, 3. Kisho has analyzed 59 by research type. Research spans Basic Science / Preclinical (27%), Epidemiology / Natural History (24%), and Clinical Trial Publication (19%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 16 | 27% |
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 7:49 AM UTC
Online Mendelian Inheritance in Man
Muscles
1 |
Retinal pigment epithelial atrophy |
Disease patterns and progression |
14 |
24% |
Clinical study results | 11 | 19% |
Research summaries | 7 | 12% |
Patient case studies | 5 | 8% |
Testing and diagnosis research | 3 | 5% |
New treatment approaches | 3 | 5% |
Holz FG (2026). [PMID: 41124203](https://pubmed.ncbi.nlm.nih.gov/41124203/). *N Engl J Med*. [Clinical Trial Publication]
Hikichi T (2026). [PMID: 40694284](https://pubmed.ncbi.nlm.nih.gov/40694284/). *Jpn J Ophthalmol*. [Epidemiology / Natural History]
Backlund MP (2026). [PMID: 41047250](https://pubmed.ncbi.nlm.nih.gov/41047250/). *Ophthalmic Genet*. [Case Report / Case Series]
Jaffe GJ (2025). [PMID: 40668667](https://pubmed.ncbi.nlm.nih.gov/40668667/). *Retina*. [Clinical Trial Publication]
Keenan TDL (2025). [PMID: 39025435](https://pubmed.ncbi.nlm.nih.gov/39025435/). *Ophthalmology*. [Clinical Trial Publication]
Sacconi R (2025). [PMID: 39566885](https://pubmed.ncbi.nlm.nih.gov/39566885/). *Ophthalmol Retina*. [Diagnostic / Biomarker]
Gao F (2025). [PMID: 40991728](https://pubmed.ncbi.nlm.nih.gov/40991728/). *Sci Transl Med*. [Basic Science / Preclinical]
Grimaldi G (2025). [PMID: 40139459](https://pubmed.ncbi.nlm.nih.gov/40139459/). *Ophthalmol Retina*. [Epidemiology / Natural History]
Zhao X (2025). [PMID: 40827631](https://pubmed.ncbi.nlm.nih.gov/40827631/). *Adv Healthc Mater*. [Gene Therapy / Novel Therapeutics]
Laich Y (2025). [PMID: 40086732](https://pubmed.ncbi.nlm.nih.gov/40086732/). *Ophthalmol Retina*. [Epidemiology / Natural History]