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infantile cerebellar-retinal degeneration (ICRD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

infantile cerebellar-retinal degeneration

MONDO:0013802

Also known as:ICRD

Overview

Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms.

GeneticsAutosomal recessive · ACO2 (chr 22)

OnsetINFANTILE

ResearchLimited published research (4 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: Ataxia, Severe intellectual disability, Retinal dystrophy, and Severe global developmental delay and others; and very common findings: Decreased body weight, Low muscle tone (hypotonia), and Damage to the optic nerve (optic atrophy). 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Bilateral tonic-clonic seizure, Cerebral cortical atrophy, Ataxia

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.

ACO2 encodes aconitase 2 (780 aa). Catalyzes the isomerization of citrate to isocitrate via cis-aconitate Highest expression in Muscle Skeletal (272.4 TPM) and Heart Left Ventricle (252.4 TPM).

Infantile cerebellar-retinal degeneration is associated with mutations in the ACO2 gene on chromosome 22.

The ACO2 protein participates in ACO2 isomerizes citrate, Frataxin transfers Fe2+ to ACO2, and ROS,RNS oxidize ACO2:4Fe-4S pathways.

ACO2 is classified as a druggable target (Enzyme category) with score 0.0.

41 pathogenic variants reported in ACO2 in ClinVar, including hotspot variants 218317 and NP_001089.1:p.Leu74Val (1-star review).

Variant

Diagnosis

Genetic testing for ACO2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 3 very common features, 10 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 infantile cerebellar-retinal degeneration.

4 publications have been identified in PubMed for infantile cerebellar-retinal degeneration. Research spans Other (25%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).

Recent Publications

Buhl E (2025). [PMID: 40210596](https://pubmed.ncbi.nlm.nih.gov/40210596/). *Clin Genet*. [Case Report / Case Series]
Jimenez-Gonzalez M (2025). [PMID: 40236501](https://pubmed.ncbi.nlm.nih.gov/40236501/). *Front Cell Neurosci*. [Other]
Padalko V (2024). [PMID: 39337438](https://pubmed.ncbi.nlm.nih.gov/39337438/). *Int J Mol Sci*. [Review / Meta-Analysis]
Yang W (2024). [PMID: 39600307](https://pubmed.ncbi.nlm.nih.gov/39600307/). *Front Cell Neurosci*. [Basic Science / Preclinical]

Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 12:11 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614559

Orphanet

European rare disease database

Orphanet:313850

GARD

Genetic and Rare Diseases Info Center

GARD:13264

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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infantile cerebellar-retinal degeneration

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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