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early-onset non-syndromic cataract - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

early-onset non-syndromic cataract

MONDO:0011060

Also known as:cataract, age-related nuclearnuclear sclerosis of the lens

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Overview

Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.

GeneticsAutosomal recessive

OnsetCONGENITAL, JUVENILE, ADULT, CHILDHOOD

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (7 articles)

Clinical Presentation

Features include: Nuclear cataract.

Organ System	Phenotype Count	Example Features
Eyes	1	Nuclear cataract

Age of onset: at birth, adolescence, adulthood, childhood.

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Diagnosis

Biomarker and diagnostic research for early-onset non-syndromic cataract has been reported in the published literature.

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.

1 clinical trial registered, 1 recruiting. Interventions under study include medical devices. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

7 publications have been identified in PubMed for early-onset non-syndromic cataract. Research spans Review / Meta-Analysis (43%), Basic Science / Preclinical (29%), and Diagnostic / Biomarker (14%).

Recent Publications

Subczynski WK (2026). [PMID: 41537757](https://pubmed.ncbi.nlm.nih.gov/41537757/). *Investigative ophthalmology & visual science*. [Review / Meta-Analysis]
Roberts JP (2026). [PMID: 42001184](https://pubmed.ncbi.nlm.nih.gov/42001184/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Liu Y (2025). [PMID: 40595094](https://pubmed.ncbi.nlm.nih.gov/40595094/). *Scientific reports*. [Basic Science / Preclinical]
Shiels A (2024). [PMID: 38927721](https://pubmed.ncbi.nlm.nih.gov/38927721/). *Genes*. [Review / Meta-Analysis]
Kang Q (2024). [PMID: 38800572](https://pubmed.ncbi.nlm.nih.gov/38800572/). *Frontiers in neuroscience*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 8:50 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601371

Orphanet

European rare disease database

Orphanet:91492

GARD

Genetic and Rare Diseases Info Center

GARD:16801

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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early-onset non-syndromic cataract

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team