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Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.
Features include very common findings: Microphthalmia, Visual impairment, Abnormal electroretinogram, and Myopia and others; and sometimes findings: Nystagmus. 15 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 8 | Retinal degeneration, Cystoid macular degeneration, Macular atrophy |
Biomarker and diagnostic research for retinal degeneration-nanophthalmos-glaucoma syndrome has been reported in the published literature.
Phenotype severity distribution: 6 very common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for retinal degeneration-nanophthalmos-glaucoma syndrome.
296 publications have been identified in PubMed for retinal degeneration-nanophthalmos-glaucoma syndrome. Kisho has analyzed 109 by research type. Research spans Review / Meta-Analysis (38%), Basic Science / Preclinical (28%), and Case Report / Case Series (10%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 41 | 38% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Muscles
2 |
Macular atrophy, Damage to the optic nerve (optic atrophy) |
Age of onset: adulthood, childhood.
Laboratory research |
30 |
28% |
Patient case studies | 11 | 10% |
Disease patterns and progression | 11 | 10% |
Testing and diagnosis research | 8 | 7% |
New treatment approaches | 6 | 6% |
Clinical study results | 2 | 2% |
Squirrell D (2026). [PMID: 41735452](https://pubmed.ncbi.nlm.nih.gov/41735452/). *Sci Rep*. [Epidemiology / Natural History]
Gong Y (2026). [PMID: 41690354](https://pubmed.ncbi.nlm.nih.gov/41690354/). *Photodiagnosis Photodyn Ther*. [Review / Meta-Analysis]
Chou Y (2026). [PMID: 41688739](https://pubmed.ncbi.nlm.nih.gov/41688739/). *Exp Mol Med*. [Gene Therapy / Novel Therapeutics]
He R (2026). [PMID: 41165761](https://pubmed.ncbi.nlm.nih.gov/41165761/). *J Clin Invest*. [Basic Science / Preclinical]
Cai X (2026). [PMID: 40847685](https://pubmed.ncbi.nlm.nih.gov/40847685/). *J Sleep Res*. [Clinical Trial Publication]
Jiang YQ (2026). [PMID: 41687000](https://pubmed.ncbi.nlm.nih.gov/41687000/). *Curr Eye Res*. [Basic Science / Preclinical]
Asghar E (2026). [PMID: 41401403](https://pubmed.ncbi.nlm.nih.gov/41401403/). *Ocul Immunol Inflamm*. [Review / Meta-Analysis]
Varghese D (2026). [PMID: 41520798](https://pubmed.ncbi.nlm.nih.gov/41520798/). *Surv Ophthalmol*. [Case Report / Case Series]
O'Neal TB (2026). [PMID: 30137803](https://pubmed.ncbi.nlm.nih.gov/30137803/). *Unknown Journal*. [Review / Meta-Analysis]
Mishra SB (2025). [PMID: 40346926](https://pubmed.ncbi.nlm.nih.gov/40346926/). *Ocul Immunol Inflamm*. [Case Report / Case Series]
AI-curated news mentioning retinal degeneration-nanophthalmos-glaucoma syndrome
Updated Jul 24, 2026
The National Eye Institute is seeking research co-development partners and licensees for an AAV2-based delivery system or eyedrop formulation to deliver Pigment Epithelium-Derived Factor peptides. This initiative aims to address inherited retinal diseases through a gene-agnostic approach.
A study reveals spontaneous whole retinal degeneration in aged Beclin1 heterozygous mice, providing insights into potential mechanisms of retinal diseases. This research may inform future therapeutic strategies for similar conditions.
Research identifies variants in the ciliopathy gene SCLT1 linked to both non-syndromic and syndromic retinal degeneration, highlighting the gene's role in disease severity. This discovery could inform future genetic testing and therapeutic strategies.
The National Eye Institute is considering granting an exclusive patent license for PEDF peptides to Perpetual Biosciences, Inc. This license could facilitate advancements in treatments for retinal degeneration.