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Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.
Biomarker and diagnostic research for retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome.
286 publications have been identified in PubMed for retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome. Kisho has analyzed 80 by research type. Research spans Review / Meta-Analysis (35%), Basic Science / Preclinical (25%), and Case Report / Case Series (16%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 28 | 35% |
Laboratory research | 20 | 25% |
Patient case studies | 13 | 16% |
Disease patterns and progression | 10 | 13% |
Testing and diagnosis research | 5 | 6% |
Clinical study results | 3 | 4% |
New treatment approaches | 1 | 1% |
He R (2026). [PMID: 41165761](https://pubmed.ncbi.nlm.nih.gov/41165761/). *J Clin Invest*. [Basic Science / Preclinical]
Takeda A (2026). [PMID: 41366138](https://pubmed.ncbi.nlm.nih.gov/41366138/). *Jpn J Ophthalmol*. [Review / Meta-Analysis]
Varghese D (2026). [PMID: 41520798](https://pubmed.ncbi.nlm.nih.gov/41520798/). *Surv Ophthalmol*. [Case Report / Case Series]
Ferro Desideri L (2026). [PMID: 41109470](https://pubmed.ncbi.nlm.nih.gov/41109470/). *Am J Ophthalmol*. [Diagnostic / Biomarker]
Zhao CS (2026). [PMID: 41608829](https://pubmed.ncbi.nlm.nih.gov/41608829/). *Curr Opin Ophthalmol*. [Review / Meta-Analysis]
Chang YH (2025). [PMID: 40738333](https://pubmed.ncbi.nlm.nih.gov/40738333/). *Ophthalmology*. [Epidemiology / Natural History]
Devlin LA (2025). [PMID: 40254346](https://pubmed.ncbi.nlm.nih.gov/40254346/). *Curr Top Dev Biol*. [Review / Meta-Analysis]
Hondur A (2025). [PMID: 40736827](https://pubmed.ncbi.nlm.nih.gov/40736827/). *Adv Exp Med Biol*. [Review / Meta-Analysis]
Tsang SH (2025). [PMID: 40736836](https://pubmed.ncbi.nlm.nih.gov/40736836/). *Adv Exp Med Biol*. [Diagnostic / Biomarker]
Hakeem A (2025). [PMID: 39781470](https://pubmed.ncbi.nlm.nih.gov/39781470/). *Int J Biol Sci*. [Review / Meta-Analysis]
Data assembled from 4 of 12 sources · Last updated Sep 21, 2026, 4:52 AM UTC
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AI-curated news mentioning retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome
Updated Sep 16, 2026
A multicenter case series identifies biallelic RDH11 variants as a cause of syndromic retinitis pigmentosa, early-onset cataracts, and neurodevelopmental delay. This discovery enhances understanding of the genetic basis for these conditions.
A new phenotype of sector retinitis pigmentosa associated with cone dystrophy has been defined, enhancing understanding of RPGR-related retinal diseases. This discovery could inform future research and therapeutic strategies.
A study on whole-exome sequencing in a consanguinity-enriched South Indian cohort reveals significant diagnostic yield and molecular diversity in retinitis pigmentosa. This research enhances understanding of genetic factors in this rare eye disease.
Abu Dhabi launches the UAE's first clinical trial for a novel gene therapy targeting MerTK-related retinitis pigmentosa, a rare inherited eye disease causing vision loss. Developed by Opus Genetics, this initiative aims to accelerate the development of treatments for inherited retinal diseases affecting about 5% of the population.
Access to gene therapies remains limited due to high costs and geographic barriers, leaving many patients untreated. Dustin Vidrine, who has retinitis pigmentosa, is seeking clinical trials for therapies that could address his specific genetic mutation.