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Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family.
Biomarker and diagnostic research for retinohepatoendocrinologic syndrome has been reported in the published literature.
No clinical trials have been registered for retinohepatoendocrinologic syndrome.
236 publications have been identified in PubMed for retinohepatoendocrinologic syndrome. Research spans Review / Meta-Analysis (49%), Basic Science / Preclinical (17%), and Case Report / Case Series (12%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 115 | 49% |
Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 7:06 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research
41 |
17% |
Patient case studies | 29 | 12% |
Disease patterns and progression | 24 | 10% |
Other research | 15 | 6% |
Testing and diagnosis research | 6 | 3% |
Clinical study results | 4 | 2% |
New treatment approaches | 2 | 1% |
Beuriat PA (2026). [PMID: 42115454](https://pubmed.ncbi.nlm.nih.gov/42115454/). *Adv Tech Stand Neurosurg*. [Review / Meta-Analysis]
Vialle R (2026). [PMID: 40976314](https://pubmed.ncbi.nlm.nih.gov/40976314/). *Orthop Traumatol Surg Res*. [Review / Meta-Analysis]
Buckner J (2026). [PMID: 41250525](https://pubmed.ncbi.nlm.nih.gov/41250525/). *Subst Use Misuse*. [Other]
Yang Y (2026). [PMID: 41795506](https://pubmed.ncbi.nlm.nih.gov/41795506/). *Artif Intell Med*. [Basic Science / Preclinical]
Jost C (2026). [PMID: 41606215](https://pubmed.ncbi.nlm.nih.gov/41606215/). *Eur J Hum Genet*. [Other]
Papazachariou A (2026). [PMID: 41128447](https://pubmed.ncbi.nlm.nih.gov/41128447/). *Curr Opin Clin Nutr Metab Care*. [Review / Meta-Analysis]
Palaparthi S (2026). [PMID: 42091310](https://pubmed.ncbi.nlm.nih.gov/42091310/). *Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu*. [Review / Meta-Analysis]
Avelino-Silva TJ (2026). [PMID: 41591773](https://pubmed.ncbi.nlm.nih.gov/41591773/). *JAMA Netw Open*. [Epidemiology / Natural History]
Wu D (2026). [PMID: 41072814](https://pubmed.ncbi.nlm.nih.gov/41072814/). *Surv Ophthalmol*. [Review / Meta-Analysis]
Sabbagh Q (2026). [PMID: 41882293](https://pubmed.ncbi.nlm.nih.gov/41882293/). *Eur J Hum Genet*. [Other]