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myopia, high, with cataract and vitreoretinal degeneration (MCVD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myopia, high, with cataract and vitreoretinal degeneration

MONDO:0013670

Also known as:MCVD

Overview

GeneticsAutosomal recessive · P3H2 (chr 3)

OnsetCHILDHOOD

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Mildly reduced visual acuity; and very common findings: Cataract and High myopia. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	4	Lens subluxation, Retinal detachment, Cataract

Age of onset: childhood.

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

P3H2 encodes prolyl 3-hydroxylase 2 (708 aa). Prolyl 3-hydroxylase that catalyzes the post-translational formation of 3-hydroxyproline on collagens. Highest expression in Spleen (81.3 TPM) and Adrenal Gland (46.5 TPM).

Myopia, high, with cataract and vitreoretinal degeneration is associated with mutations in the P3H2 gene on chromosome 3.

The P3H2 protein participates in Collagen prolyl 3-hydroxylase converts 4-Hyp collagen to 3,4-Hyp collagen pathway.

P3H2 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for P3H2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for myopia, high, with cataract and vitreoretinal degeneration has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 2 very common features, 3 common features.

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 myopia, high, with cataract and vitreoretinal degeneration.

2 publications have been identified in PubMed for myopia, high, with cataract and vitreoretinal degeneration. Research spans Diagnostic / Biomarker (50%) and Basic Science / Preclinical (50%).

Recent Publications

Brock DC (2026). [PMID: 41632798](https://pubmed.ncbi.nlm.nih.gov/41632798/). *PLoS Genet*. [Basic Science / Preclinical]
Shu QM (2025). [PMID: 40200375](https://pubmed.ncbi.nlm.nih.gov/40200375/). *Hum Genomics*. [Diagnostic / Biomarker]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614292

GARD

Genetic and Rare Diseases Info Center

GARD:18197

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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myopia, high, with cataract and vitreoretinal degeneration

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team