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Features include always present findings: Astigmatism, Retinal detachment, Retinal dots, and Peripapillary atrophy and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 6 | Retinal detachment, Retinal dots, Visual impairment |
Muscles |
TUB function has not been fully characterized.
Retinal dystrophy and obesity is associated with mutations in the TUB gene on chromosome 11.
Genetic testing for TUB is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for retinal dystrophy and obesity has been reported in the published literature.
Phenotype severity distribution: 11 always present features.
No clinical trials have been registered for retinal dystrophy and obesity.
40 publications have been identified in PubMed for retinal dystrophy and obesity. Research spans Case Report / Case Series (48%), Epidemiology / Natural History (23%), and Review / Meta-Analysis (15%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 19 | 48% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:55 PM UTC
Online Mendelian Inheritance in Man
2
Peripapillary atrophy, Retinal pigment epithelial atrophy |
Disease patterns and progression
9 |
23% |
Research summaries | 6 | 15% |
Laboratory research | 5 | 13% |
Testing and diagnosis research | 1 | 3% |
M R R (2026). [PMID: 41815617](https://pubmed.ncbi.nlm.nih.gov/41815617/). *Cureus*. [Case Report / Case Series]
Mahler EA (2026). [PMID: 41238926](https://pubmed.ncbi.nlm.nih.gov/41238926/). *Ophthalmologie*. [Review / Meta-Analysis]
Jena D (2026). [PMID: 41641302](https://pubmed.ncbi.nlm.nih.gov/41641302/). *AACE Endocrinol Diabetes*. [Case Report / Case Series]
Dargar T (2026). [PMID: 41751610](https://pubmed.ncbi.nlm.nih.gov/41751610/). *Genes (Basel)*. [Basic Science / Preclinical]
Zhang K (2026). [PMID: 41591480](https://pubmed.ncbi.nlm.nih.gov/41591480/). *Acta Diabetol*. [Case Report / Case Series]
Thiriveedi D (2026). [PMID: 41766136](https://pubmed.ncbi.nlm.nih.gov/41766136/). *Clin Endocrinol (Oxf)*. [Epidemiology / Natural History]
Aziz A (2026). [PMID: 41832542](https://pubmed.ncbi.nlm.nih.gov/41832542/). *J Med Case Rep*. [Case Report / Case Series]
Goda T (2026). [PMID: 41956113](https://pubmed.ncbi.nlm.nih.gov/41956113/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]
Yang X (2026). [PMID: 41064051](https://pubmed.ncbi.nlm.nih.gov/41064051/). *Mol Syndromol*. [Case Report / Case Series]
Seyedtaghia MR (2026). [PMID: 40252141](https://pubmed.ncbi.nlm.nih.gov/40252141/). *Biochem Genet*. [Basic Science / Preclinical]