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Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.
Biomarker and diagnostic research for microphthalmia-brain atrophy syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for microphthalmia-brain atrophy syndrome.
200 publications have been identified in PubMed for microphthalmia-brain atrophy syndrome. Kisho has analyzed 158 by research type. Research spans Review / Meta-Analysis (30%), Epidemiology / Natural History (27%), and Basic Science / Preclinical (20%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 48 | 30% |
Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 10:12 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Disease patterns and progression |
42 |
27% |
Laboratory research | 31 | 20% |
Testing and diagnosis research | 17 | 11% |
Clinical study results | 9 | 6% |
Patient case studies | 8 | 5% |
New treatment approaches | 2 | 1% |
Other research | 1 | 1% |
Li X (2026). [PMID: 41260172](https://pubmed.ncbi.nlm.nih.gov/41260172/). *The journal of nutrition, health & aging*. [Epidemiology / Natural History]
Liu CH (2026). [PMID: 41193695](https://pubmed.ncbi.nlm.nih.gov/41193695/). *Nature reviews. Endocrinology*. [Review / Meta-Analysis]
Naas S (2026). [PMID: 41683365](https://pubmed.ncbi.nlm.nih.gov/41683365/). *Nutrients*. [Review / Meta-Analysis]
Papazachariou A (2026). [PMID: 41128447](https://pubmed.ncbi.nlm.nih.gov/41128447/). *Current opinion in clinical nutrition and metabolic care*. [Review / Meta-Analysis]
Minnetti M (2026). [PMID: 41649890](https://pubmed.ncbi.nlm.nih.gov/41649890/). *Ann Med*. [Review / Meta-Analysis]
Murcia-Soriano LF (2026). [PMID: 41605597](https://pubmed.ncbi.nlm.nih.gov/41605597/). *BMJ open*. [Review / Meta-Analysis]
Ahn H (2026). [PMID: 40617409](https://pubmed.ncbi.nlm.nih.gov/40617409/). *J Adv Res*. [Epidemiology / Natural History]
Yogeshwar SM (2026). [PMID: 40650880](https://pubmed.ncbi.nlm.nih.gov/40650880/). *Brain : a journal of neurology*. [Diagnostic / Biomarker]
Barone M (2026). [PMID: 40835002](https://pubmed.ncbi.nlm.nih.gov/40835002/). *J Adv Res*. [Basic Science / Preclinical]
Giustina A (2026). [PMID: 41435994](https://pubmed.ncbi.nlm.nih.gov/41435994/). *Metabolism: clinical and experimental*. [Review / Meta-Analysis]
AI-curated news mentioning microphthalmia-brain atrophy syndrome
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.