Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome.

106 publications have been identified in PubMed for foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome. Research spans Case Report / Case Series (28%), Basic Science / Preclinical (17%), and Epidemiology / Natural History (17%).

Research Type	Count	% of Total
Patient case studies	29	28%
Laboratory research	17	17%
Disease patterns and progression	17	17%
Research summaries	16	16%
Testing and diagnosis research	11	11%
Clinical study results	10	10%
New treatment approaches	2	2%
Other research	1	1%

Recent Publications

Cheung R (2026). [PMID: 41537758](https://pubmed.ncbi.nlm.nih.gov/41537758/). *Invest Ophthalmol Vis Sci*. [Diagnostic / Biomarker]
Altinbay D (2026). [PMID: 41543258](https://pubmed.ncbi.nlm.nih.gov/41543258/). *Curr Eye Res*. [Diagnostic / Biomarker]
Chen C (2026). [PMID: 42195040](https://pubmed.ncbi.nlm.nih.gov/42195040/). *Genes (Basel)*. [Epidemiology / Natural History]
Brandsen RP (2026). [PMID: 41715990](https://pubmed.ncbi.nlm.nih.gov/41715990/). *Br J Haematol*. [Case Report / Case Series]
Strauss I (2026). [PMID: 41901014](https://pubmed.ncbi.nlm.nih.gov/41901014/). *Life (Basel)*. [Review / Meta-Analysis]
Maxwell GE (2026). [PMID: 42096227](https://pubmed.ncbi.nlm.nih.gov/42096227/). *JAMA Ophthalmol*. [Epidemiology / Natural History]
Sekhri R (2026). [PMID: 40864028](https://pubmed.ncbi.nlm.nih.gov/40864028/). *Ophthalmology*. [Basic Science / Preclinical]
Apam-Garduño D (2026). [PMID: 41917731](https://pubmed.ncbi.nlm.nih.gov/41917731/). *Ophthalmic Genet*. [Basic Science / Preclinical]
Chattannavar G (2026). [PMID: 41486651](https://pubmed.ncbi.nlm.nih.gov/41486651/). *Ophthalmic Genet*. [Basic Science / Preclinical]
Brockmann C (2026). [PMID: 40616365](https://pubmed.ncbi.nlm.nih.gov/40616365/). *Acta Ophthalmol*. [Epidemiology / Natural History]

Organ System	Phenotype Count	Example Features
Eyes	3	Optic nerve misrouting, Strabismus, Nystagmus
Skin	1	Foveal hyperpigmentation

Kisho

foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team