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A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.
Features include: Blindness, Macular dystrophy, Abnormal electroretinogram, and Glaucoma and 1 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 3 | Blindness, Macular dystrophy, Glaucoma |
Muscles | 1 | Chorioretinal atrophy |
TIMP3 function has not been fully characterized.
Sorsby fundus dystrophy is caused by mutations in the TIMP3 gene on chromosome 22.
Genetic testing for TIMP3 is available. Testing is considered confirmatory for diagnosis.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for Sorsby fundus dystrophy.
11 publications have been identified in PubMed for Sorsby fundus dystrophy. Research spans Basic Science / Preclinical (64%), Case Report / Case Series (18%), and Other (9%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 7 | 64% |
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 12:30 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Sorsby fundus dystrophy
2 |
18% |
Other research | 1 | 9% |
Research summaries | 1 | 9% |
Li M (2025). [PMID: 41394255](https://pubmed.ncbi.nlm.nih.gov/41394255/). *Clinical ophthalmology (Auckland, N.Z.)*. [Case Report / Case Series]
Charbel Issa P (2025). [PMID: 39820891](https://pubmed.ncbi.nlm.nih.gov/39820891/). *Klinische Monatsblatter fur Augenheilkunde*. [Basic Science / Preclinical]
Hartung KJ (2025). [PMID: 40736822](https://pubmed.ncbi.nlm.nih.gov/40736822/). *Adv Exp Med Biol*. [Other]
Hass DT (2024). [PMID: 39276938](https://pubmed.ncbi.nlm.nih.gov/39276938/). *The Journal of biological chemistry*. [Basic Science / Preclinical]
Rizwan S (2024). [PMID: 39230994](https://pubmed.ncbi.nlm.nih.gov/39230994/). *Investigative ophthalmology & visual science*. [Basic Science / Preclinical]
Grenell A (2024). [PMID: 39047907](https://pubmed.ncbi.nlm.nih.gov/39047907/). *Molecular metabolism*. [Basic Science / Preclinical]
Dalvi S (2024). [PMID: 39362220](https://pubmed.ncbi.nlm.nih.gov/39362220/). *Developmental cell*. [Basic Science / Preclinical]
Zhu X (2024). [PMID: 38640637](https://pubmed.ncbi.nlm.nih.gov/38640637/). *Stem cell research*. [Basic Science / Preclinical]
Georgiou M (2024). [PMID: 38278208](https://pubmed.ncbi.nlm.nih.gov/38278208/). *Progress in retinal and eye research*. [Review / Meta-Analysis]
Vergaro A (2024). [PMID: 38612555](https://pubmed.ncbi.nlm.nih.gov/38612555/). *International journal of molecular sciences*. [Case Report / Case Series]