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optic atrophy 16 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

optic atrophy 16

MONDO:0957978

Overview

GeneticsAutosomal recessive · MECR (chr 1)

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, Inner ear hearing loss (sensorineural hearing impairment), Dyschromatopsia, and Damage to the optic nerve (optic atrophy) and others; and common findings: Reduced visual acuity.

Organ System	Phenotype Count	Example Features
Eyes	2	Damage to the optic nerve (optic atrophy), Temporal optic disc pallor

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.

MECR encodes mitochondrial trans-2-enoyl-CoA reductase (373 aa). Catalyzes the NADPH-dependent reduction of trans-2-enoyl thioesters in mitochondrial fatty acid synthesis (fatty acid synthesis type II). Highest expression in Cells Cultured fibroblasts (16.3 TPM) and Nerve Tibial (15.9 TPM).

Optic atrophy 16 is associated with mutations in the MECR gene on chromosome 1.

MECR is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

GeneReviews

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.

GeneReviews

Diagnostic Criteria

To date no formal diagnostic criteria have been published for MECR-related neurologic disorder.

Suggestive Findings

MECR-related neurologic disorder should be suspected in individuals with the following clinical findings, neuroimaging findings, and ethnicity.

Clinical findings

Childhood-onset dystonia, chorea, and other movement disorders: ages 1-6.5 years

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for optic atrophy 16. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with MECR-related neurologic disorder, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

The following are recommended:

Yearly eye examination to determine need for additional visual aids
Yearly neurologic assessment to determine need for additional interventions, including speech therapy

Source: GeneReviews — "MECR-Related Neurologic Disorder"

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 optic atrophy 16.

132 publications have been identified in PubMed for optic atrophy 16. Research spans Case Report / Case Series (28%), Basic Science / Preclinical (25%), and Diagnostic / Biomarker (16%).

Research Type	Count	% of Total
Patient case studies	36	28%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 6:09 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620629

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?

← Back to All Diseases

GeneReviews

Differential Diagnosis

The differential diagnosis of MECR-related neurologic disorder includes disorders that combine the clinical features of childhood-onset movement disorder (mainly dystonia [see Hereditary Dystonia Overview] but also ataxia and chorea) and the MRI findings of signal abnormality in the basal ganglia present when the movement disorder appears. Table 2. Disorders with Dystonia and MRI Signal Abnormality in the Basal Ganglia to Consider in the Differential Diagnosis of MECR-Related Neurologic Disorder

Differential Disorder	Gene(s)	MOI	Clinical Features of Differential Disorder
Overlapping w/MECR-related neurologic disorder1	Distinguishing from MECR-related neurologic disorder Leigh syndrome(See Nuclear Gene-Encoded Leigh Syndrome Overview Mitochondrial DNA-Associated Leigh Syndrome and NARP.)	See footnote 2.	AR, XL, Mit
Leber hereditary optic neuropathy	See footnote 3.	Mit	Optic atrophy is the main manifestation.
GCDH	AR	Cognition may be preserved.; Symptoms may worsen following febrile illness.	Typically seen:; Macrocephaly widening of Sylvian fissures on MRI; Episodes of acute encephalopathy w/dystonic crises; urine glutaric acid 3-OH-glutaric acid D-2-hydroxyglutaric aciduria(OMIM 609186)
D2HGDH	AR	Symptoms may worsen following febrile illness.	Typically seen:; Seizures, cardiomyopathy, cognitive regression; urine D-2-hydroxyglutaric acid May be seen:; Subependymal cysts on MRI; blood/CNS lactate Biotin-thiamine-responsive basal ganglia disease
SLC19A3	AR	Dysarthria eye mvmt abnormality are common.	Typically seen:; Encephalopathy; Good response to high doses of biotin thiamine May be seen:; Signal abnormality in the brain stem on MRI
Huntington disease	HTT4	AD	Ataxia chorea may also be present.
VPS13A	AR	Dysarthria is common.	Typically seen:; Onset after 3rd decade (although childhood onset has been reported); Cognitive behavioral changes; Caudate atrophy on MRI (characteristic feature); creatine kinase acanthocytes; Seizures (in almost half of affected persons) DRPLA5
ATN1	AD	Ataxia chorea may also be present.	Typically seen:; Myoclonic epilepsy, behavioral changes, dementia; Atrophic changes in cerebellum brain stem on MRI Wilson disease
ATP7B	AR	Chorea dysarthria are common.	—

Source: GeneReviews — "MECR-Related Neurologic Disorder"

Kisho

optic atrophy 16

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

optic atrophy 16

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications