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Features include: Macular dystrophy.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 1 | Macular dystrophy |
No clinical trials have been registered for macular dystrophy, X-linked.
32 publications have been identified in PubMed for macular dystrophy, X-linked. Research spans Epidemiology / Natural History (34%), Review / Meta-Analysis (22%), and Case Report / Case Series (16%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 11 | 34% |
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 12:48 AM UTC
Online Mendelian Inheritance in Man
Research summaries
7 |
22% |
Patient case studies | 5 | 16% |
Laboratory research | 4 | 13% |
New treatment approaches | 4 | 13% |
Clinical study results | 1 | 3% |
Hu Y (2026). [PMID: 42181643](https://pubmed.ncbi.nlm.nih.gov/42181643/). *Front Cardiovasc Med*. [Case Report / Case Series]
Hassan S (2026). [PMID: 41626874](https://pubmed.ncbi.nlm.nih.gov/41626874/). *Invest Ophthalmol Vis Sci*. [Epidemiology / Natural History]
Golebka JP (2026). [PMID: 42227810](https://pubmed.ncbi.nlm.nih.gov/42227810/). *Transl Vis Sci Technol*. [Epidemiology / Natural History]
Huang J (2026). [PMID: 42274835](https://pubmed.ncbi.nlm.nih.gov/42274835/). *Doc Ophthalmol*. [Case Report / Case Series]
Liang L (2026). [PMID: 42269152](https://pubmed.ncbi.nlm.nih.gov/42269152/). *N Engl J Med*. [Gene Therapy / Novel Therapeutics]
Shirley M (2026). [PMID: 41335372](https://pubmed.ncbi.nlm.nih.gov/41335372/). *Drugs*. [Review / Meta-Analysis]
Roig-Ferreruela G (2026). [PMID: 42081051](https://pubmed.ncbi.nlm.nih.gov/42081051/). *J Ophthalmic Inflamm Infect*. [Case Report / Case Series]
Yeh TC (2026). [PMID: 42033570](https://pubmed.ncbi.nlm.nih.gov/42033570/). *Doc Ophthalmol*. [Basic Science / Preclinical]
Andres-Mateos E (2026). [PMID: 41814654](https://pubmed.ncbi.nlm.nih.gov/41814654/). *Mol Ther*. [Gene Therapy / Novel Therapeutics]
Raji S (2026). [PMID: 41481301](https://pubmed.ncbi.nlm.nih.gov/41481301/). *JAMA Ophthalmol*. [Epidemiology / Natural History]
AI-curated news mentioning macular dystrophy, X-linked
Updated Aug 7, 2026
Research identifies the AP5B1 p.(Leu785Pro) variant as a common cause of late-onset macular dystrophy, which can present with various extraocular symptoms. This discovery enhances understanding of the genetic factors contributing to this condition.