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optic atrophy 13 with retinal and foveal abnormalities - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

optic atrophy 13 with retinal and foveal abnormalities

MONDO:0008135

Also known as:optic atrophy with negative Electroretinograms

Overview

GeneticsAutosomal dominant · SSBP1 (chr 7)

ResearchLimited published research (5 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: Damage to the optic nerve (optic atrophy). 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	2	Damage to the optic nerve (optic atrophy), Attenuation of retinal blood vessels

Genetic Landscape

SSBP1 function has not been fully characterized.

Optic atrophy 13 with retinal and foveal abnormalities is strongly associated with mutations in the SSBP1 gene on chromosome 7.

Diagnosis

Genetic testing for SSBP1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 13 with retinal and foveal abnormalities.

5 publications have been identified in PubMed for optic atrophy 13 with retinal and foveal abnormalities. Research spans Case Report / Case Series (40%), Basic Science / Preclinical (40%), and Review / Meta-Analysis (20%).

Recent Publications

Hsu H (2025). [PMID: 40475127](https://pubmed.ncbi.nlm.nih.gov/40475127/). *Am J Ophthalmol Case Rep*. [Case Report / Case Series]
Carlà MM (2024). [PMID: 39502458](https://pubmed.ncbi.nlm.nih.gov/39502458/). *Am J Ophthalmol Case Rep*. [Case Report / Case Series]
Etemadifar M (2024). [PMID: 39217808](https://pubmed.ncbi.nlm.nih.gov/39217808/). *Mult Scler Relat Disord*. [Review / Meta-Analysis]
Wu M (2024). [PMID: 39499510](https://pubmed.ncbi.nlm.nih.gov/39499510/). *Invest Ophthalmol Vis Sci*. [Basic Science / Preclinical]
Barboni MTS (2024). [PMID: 38451375](https://pubmed.ncbi.nlm.nih.gov/38451375/). *Doc Ophthalmol*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:165510

Questions for Your Care Team

→Should I pursue genetic testing for SSBP1, and what would the results mean for my family?
→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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optic atrophy 13 with retinal and foveal abnormalities

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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