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mitochondrial dna depletion syndrome 16B (neuroophthalmic type) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial dna depletion syndrome 16B (neuroophthalmic type)

MONDO:0030326

Also known as:MTDPS16B

Overview

GeneticsAutosomal recessive · POLG2 (chr 17)

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: Visual loss, Peripheral axonal neuropathy, Premature ovarian insufficiency, and Difficulty walking (gait disturbance) and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Peripheral axonal neuropathy, Difficulty walking (gait disturbance), Cerebral cortical atrophy

Genetic Landscape

POLG2 function has not been fully characterized.

Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) is associated with mutations in the POLG2 gene on chromosome 17.

Diagnosis

Genetic testing for POLG2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 13 always present features.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619425

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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mitochondrial dna depletion syndrome 16B (neuroophthalmic type)

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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