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Features include sometimes findings: Visual field defect, Reduced visual acuity, and Visual impairment. 5 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 3 | Visual impairment, Vitelliform-like macular lesions, Macular dystrophy |
Biomarker and diagnostic research for vitelliform macular dystrophy 1 has been reported in the published literature.
No clinical trials have been registered for vitelliform macular dystrophy 1.
45 publications have been identified in PubMed for vitelliform macular dystrophy 1. Research spans Case Report / Case Series (38%), Epidemiology / Natural History (24%), and Basic Science / Preclinical (18%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 17 | 38% |
Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 8:48 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Disease patterns and progression
11 |
24% |
Laboratory research | 8 | 18% |
Research summaries | 5 | 11% |
Testing and diagnosis research | 4 | 9% |
De-Pablo-Gómez-De-Liaño B (2026). [PMID: 41813572](https://pubmed.ncbi.nlm.nih.gov/41813572/). *Ophthalmic Genet*. [Basic Science / Preclinical]
Sæther E (2026). [PMID: 41627933](https://pubmed.ncbi.nlm.nih.gov/41627933/). *Acta Ophthalmol*. [Epidemiology / Natural History]
Cömerter D (2026). [PMID: 41452621](https://pubmed.ncbi.nlm.nih.gov/41452621/). *Eur J Ophthalmol*. [Case Report / Case Series]
Ali H (2026). [PMID: 42146954](https://pubmed.ncbi.nlm.nih.gov/42146954/). *Rom J Ophthalmol*. [Case Report / Case Series]
Feo A (2026). [PMID: 41198979](https://pubmed.ncbi.nlm.nih.gov/41198979/). *Eye (Lond)*. [Review / Meta-Analysis]
Gao A (2026). [PMID: 42150613](https://pubmed.ncbi.nlm.nih.gov/42150613/). *Can J Ophthalmol*. [Basic Science / Preclinical]
Lu QX (2026). [PMID: 42014342](https://pubmed.ncbi.nlm.nih.gov/42014342/). *Sheng Li Xue Bao*. [Basic Science / Preclinical]
Zhou Z (2026). [PMID: 41456629](https://pubmed.ncbi.nlm.nih.gov/41456629/). *Cell Signal*. [Case Report / Case Series]
Formenti F (2026). [PMID: 40591937](https://pubmed.ncbi.nlm.nih.gov/40591937/). *Retina*. [Case Report / Case Series]
Ni RL (2026). [PMID: 41991505](https://pubmed.ncbi.nlm.nih.gov/41991505/). *Ophthalmic Genet*. [Case Report / Case Series]