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Features include always present findings: Telecanthus, Microcornea, Chorioretinal degeneration, and Posteriorly rotated ears and others; and common findings: Broad nasal tip. 8 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 1 | Posterior subcapsular cataract |
ADAMTS18 encodes ADAM metallopeptidase with thrombospondin type 1 motif 18 (1,221 aa). Highest expression in Brain Cerebellar Hemisphere (29.1 TPM) and Brain Cerebellum (24.5 TPM).
Microcornea-myopic chorioretinal atrophy is caused by mutations in the ADAMTS18 gene on chromosome 16.
ADAMTS18 is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 0.9.
11 pathogenic variants reported in ADAMTS18 in ClinVar.
Genetic testing for ADAMTS18 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for microcornea-myopic chorioretinal atrophy has been reported in the published literature.
Phenotype severity distribution: 5 always present features, 1 common feature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for microcornea-myopic chorioretinal atrophy.
299 publications have been identified in PubMed for microcornea-myopic chorioretinal atrophy. Research spans Case Report / Case Series (46%), Review / Meta-Analysis (17%), and Epidemiology / Natural History (14%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 138 | 46% |
Data assembled from 8 of 12 sources · Last updated Nov 3, 2026, 7:46 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Research summaries
50 |
17% |
Disease patterns and progression | 41 | 14% |
Testing and diagnosis research | 22 | 7% |
New treatment approaches | 17 | 6% |
Laboratory research | 16 | 5% |
Clinical study results | 11 | 4% |
Other research | 4 | 1% |
Qi J (2026). [PMID: 42597366](https://pubmed.ncbi.nlm.nih.gov/42597366/). *Front Cell Neurosci*. [Basic Science / Preclinical]
Khan Z (2026). [PMID: 42331100](https://pubmed.ncbi.nlm.nih.gov/42331100/). *Ophthalmol Retina*. [Gene Therapy / Novel Therapeutics]
Sree Keerti R (2026). [PMID: 42096258](https://pubmed.ncbi.nlm.nih.gov/42096258/). *Ocul Immunol Inflamm*. [Review / Meta-Analysis]
Forte P (2026). [PMID: 42103031](https://pubmed.ncbi.nlm.nih.gov/42103031/). *Surv Ophthalmol*. [Review / Meta-Analysis]
Karimi S (2026). [PMID: 42630555](https://pubmed.ncbi.nlm.nih.gov/42630555/). *J Ophthalmic Vis Res*. [Case Report / Case Series]
Boyce TM (2026). [PMID: 42063291](https://pubmed.ncbi.nlm.nih.gov/42063291/). *Ocul Immunol Inflamm*. [Epidemiology / Natural History]
Farrell LC (2026). [PMID: 42321871](https://pubmed.ncbi.nlm.nih.gov/42321871/). *Int J Retina Vitreous*. [Diagnostic / Biomarker]
Mehrasa R (2026). [PMID: 42417592](https://pubmed.ncbi.nlm.nih.gov/42417592/). *Invest Ophthalmol Vis Sci*. [Basic Science / Preclinical]
Nunziata A (2026). [PMID: 41561667](https://pubmed.ncbi.nlm.nih.gov/41561667/). *Am J Ophthalmol Case Rep*. [Case Report / Case Series]
Maliagkani E (2026). [PMID: 42507991](https://pubmed.ncbi.nlm.nih.gov/42507991/). *Acta Ophthalmol*. [Diagnostic / Biomarker]
AI-curated news mentioning microcornea-myopic chorioretinal atrophy
Updated Jan 29, 2026
A recent expert consensus outlines the characteristics, etiology, and management strategies for chorioretinal atrophy in patients treated with voretigene neparvovec. This consensus aims to enhance understanding and treatment approaches for this condition.