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Article

Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling.

Orphanet journal of rare diseases - 31 May 2023

Chang Yin-Hsi, Kang Eugene Yu-Chuan, Liu Laura, Jenny Laura A, Khang Rin, Seo Go Hun, Lee Hane, Chen Kuan-Jen, Wu Wei-Chi, Hsiao Meng-Chang, Wang Nan-Kai

Abstract excerpt

BACKGROUND: Optic atrophy-13 with retinal and foveal abnormalities (OPA13) (MIM #165510) is a mitochondrial disease in which apparent bilateral optic atrophy is present and sometimes followed by retinal pigmentary changes or photoreceptors degeneration. OPA13 is caused by heterozygous mutation in the SSBP1 gene, associated with variable mitochondrial dysfunctions. RESULTS: We have previously reported a...

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Source

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Identifiers

PMID: 37259171
DOI: 10.1186/s13023-023-02748-9
PMCID: PMC10233871

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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