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Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severely attenuated focal macular and multifocal electroretinograms.
Features include very common findings: Macular dystrophy. 5 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 1 | Macular dystrophy |
RP1L1 function has not been fully characterized.
Occult macular dystrophy is associated with mutations in the RP1L1 gene on chromosome 8.
Genetic testing for RP1L1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for occult macular dystrophy has been reported in the published literature.
Phenotype severity distribution: 1 very common feature.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for occult macular dystrophy.
19 publications have been identified in PubMed for occult macular dystrophy. Research spans Basic Science / Preclinical (47%), Review / Meta-Analysis (21%), and Diagnostic / Biomarker (11%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 9 | 47% |
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:48 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
4 |
21% |
Testing and diagnosis research | 2 | 11% |
Patient case studies | 2 | 11% |
Disease patterns and progression | 2 | 11% |
Huchzermeyer C (2026). [PMID: 41718256](https://pubmed.ncbi.nlm.nih.gov/41718256/). *Vision (Basel, Switzerland)*. [Diagnostic / Biomarker]
Ye Y (2026). [PMID: 41555797](https://pubmed.ncbi.nlm.nih.gov/41555797/). *Journal of cell science*. [Basic Science / Preclinical]
Wang AG (2026). [PMID: 41534124](https://pubmed.ncbi.nlm.nih.gov/41534124/). *Stem cell research*. [Basic Science / Preclinical]
Huchzermeyer C (2025). [PMID: 40208579](https://pubmed.ncbi.nlm.nih.gov/40208579/). *Investigative ophthalmology & visual science*. [Basic Science / Preclinical]
Hartung KJ (2025). [PMID: 40736821](https://pubmed.ncbi.nlm.nih.gov/40736821/). *Advances in experimental medicine and biology*. [Basic Science / Preclinical]
Pan Y (2025). [PMID: 40450528](https://pubmed.ncbi.nlm.nih.gov/40450528/). *HGG advances*. [Basic Science / Preclinical]
Amato A (2025). [PMID: 40236509](https://pubmed.ncbi.nlm.nih.gov/40236509/). *American journal of ophthalmology case reports*. [Case Report / Case Series]
Antropoli A (2025). [PMID: 40172514](https://pubmed.ncbi.nlm.nih.gov/40172514/). *Investigative ophthalmology & visual science*. [Basic Science / Preclinical]
Hahn LC (2025). [PMID: 39128788](https://pubmed.ncbi.nlm.nih.gov/39128788/). *Ophthalmology. Retina*. [Diagnostic / Biomarker]
Mahler EA (2025). [PMID: 41153457](https://pubmed.ncbi.nlm.nih.gov/41153457/). *Genes*. [Basic Science / Preclinical]