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Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.
Features include always present findings: Metamorphopsia, Reduced visual acuity, Visual impairment, and Vitelliform-like macular lesions; and rarely findings: Choroidal neovascularization. 10 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 5 | Color vision defect, Visual impairment, Macular atrophy |
PRPH2 function has not been fully characterized.
Vitelliform macular dystrophy 3 is associated with mutations in the PRPH2 gene on chromosome 6.
Genetic testing for PRPH2 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for vitelliform macular dystrophy 3 has been reported in the published literature.
Phenotype severity distribution: 4 always present features.
No clinical trials have been registered for vitelliform macular dystrophy 3.
83 publications have been identified in PubMed for vitelliform macular dystrophy 3. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (24%), and Review / Meta-Analysis (17%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 27 | 33% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:31 AM UTC
Online Mendelian Inheritance in Man
Muscles
1 |
Macular atrophy |
Age of onset: adulthood.
Laboratory research
20 |
24% |
Research summaries | 14 | 17% |
Disease patterns and progression | 13 | 16% |
Testing and diagnosis research | 4 | 5% |
Clinical study results | 3 | 4% |
New treatment approaches | 2 | 2% |
Ali H (2026). [PMID: 42146954](https://pubmed.ncbi.nlm.nih.gov/42146954/). *Rom J Ophthalmol*. [Case Report / Case Series]
Backlund MP (2026). [PMID: 41047250](https://pubmed.ncbi.nlm.nih.gov/41047250/). *Ophthalmic genetics*. [Basic Science / Preclinical]
Zhou Z (2026). [PMID: 41456629](https://pubmed.ncbi.nlm.nih.gov/41456629/). *Cellular signalling*. [Basic Science / Preclinical]
Whang K (2026). [PMID: 41842764](https://pubmed.ncbi.nlm.nih.gov/41842764/). *Ophthalmic surgery, lasers & imaging retina*. [Case Report / Case Series]
De-Pablo-Gómez-De-Liaño B (2026). [PMID: 41813572](https://pubmed.ncbi.nlm.nih.gov/41813572/). *Ophthalmic genetics*. [Basic Science / Preclinical]
Pradhan A (2026). [PMID: 41427799](https://pubmed.ncbi.nlm.nih.gov/41427799/). *Retinal cases & brief reports*. [Basic Science / Preclinical]
Padhy SK (2026). [PMID: 41629643](https://pubmed.ncbi.nlm.nih.gov/41629643/). *Documenta ophthalmologica. Advances in ophthalmology*. [Diagnostic / Biomarker]
Gao A (2026). [PMID: 42150613](https://pubmed.ncbi.nlm.nih.gov/42150613/). *Can J Ophthalmol*. [Basic Science / Preclinical]
Lewis TR (2026). [PMID: 41642651](https://pubmed.ncbi.nlm.nih.gov/41642651/). *The Journal of clinical investigation*. [Gene Therapy / Novel Therapeutics]
Voide N (2026). [PMID: 42008983](https://pubmed.ncbi.nlm.nih.gov/42008983/). *Klin Monbl Augenheilkd*. [Case Report / Case Series]
AI-curated news mentioning vitelliform macular dystrophy 3
Updated Sep 3, 2026
A comparative study highlights the clinical, structural, and vascular features of adult-onset foveomacular vitelliform dystrophy. The findings provide insights into the disease's characteristics, aiding in better understanding and potential future research directions.