Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF3 gene.
Features include common findings: Microphthalmia.
GDF3 encodes growth differentiation factor 3 (364 aa). Growth factor involved in early embryonic development and adipose-tissue homeostasis. Highest expression in Kidney Medulla (2.6 TPM) and Spleen (1.3 TPM).
Isolated microphthalmia 7 is associated with mutations in the GDF3 gene on chromosome 12.
GDF3 is classified as a druggable target (Druggable Genome, Growth Factor, and Transcription Factor categories) with score 0.0.
Genetic testing for GDF3 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for isolated microphthalmia 7 has been reported in the published literature.
Phenotype severity distribution: 1 common feature.
No clinical trials have been registered for isolated microphthalmia 7.
13 publications have been identified in PubMed for isolated microphthalmia 7. Research spans Basic Science / Preclinical (38%), Case Report / Case Series (23%), and Epidemiology / Natural History (23%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 5 | 38% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:53 AM UTC
Online Mendelian Inheritance in Man
3 |
23% |
Disease patterns and progression | 3 | 23% |
Testing and diagnosis research | 1 | 8% |
Research summaries | 1 | 8% |
Huang T (2026). [PMID: 41822754](https://pubmed.ncbi.nlm.nih.gov/41822754/). *Front Genet*. [Epidemiology / Natural History]
Merepa SS (2025). [PMID: 40301690](https://pubmed.ncbi.nlm.nih.gov/40301690/). *Eur J Hum Genet*. [Epidemiology / Natural History]
Xie W (2025). [PMID: 40817209](https://pubmed.ncbi.nlm.nih.gov/40817209/). *BMC Pregnancy Childbirth*. [Case Report / Case Series]
Bobrova N (2025). [PMID: 40934679](https://pubmed.ncbi.nlm.nih.gov/40934679/). *Int J Surg Case Rep*. [Case Report / Case Series]
Lee CY (2025). [PMID: 41407325](https://pubmed.ncbi.nlm.nih.gov/41407325/). *J Microbiol Biotechnol*. [Basic Science / Preclinical]
Choi BM (2025). [PMID: 39809510](https://pubmed.ncbi.nlm.nih.gov/39809510/). *J Microbiol Biotechnol*. [Basic Science / Preclinical]
Jiménez Cruz J (2025). [PMID: 40040326](https://pubmed.ncbi.nlm.nih.gov/40040326/). *Acta Obstet Gynecol Scand*. [Diagnostic / Biomarker]
Patsalos A (2024). [PMID: 39190487](https://pubmed.ncbi.nlm.nih.gov/39190487/). *J Clin Invest*. [Basic Science / Preclinical]
Li D (2024). [PMID: 39007834](https://pubmed.ncbi.nlm.nih.gov/39007834/). *Transl Vis Sci Technol*. [Basic Science / Preclinical]
Laasri K (2024). [PMID: 39280748](https://pubmed.ncbi.nlm.nih.gov/39280748/). *Radiol Case Rep*. [Case Report / Case Series]
AI-curated news mentioning isolated microphthalmia 7
Updated Jul 28, 2026
A study analyzed 111 patients with bilateral anterior segment dysgenesis, aniridia, microphthalmia, and anophthalmia, providing insights into the molecular and clinical characteristics of these conditions. The findings may enhance understanding and management of these rare eye disorders.