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Article

IDH3A-related retinal dystrophy with bilateral macular pseudocoloboma in a 2-month-old infant.

Ophthalmic genetics - 1 Apr 2026

Mavridou Eleftheria P, Mourgela Anna, Papadopoulou Margarita, Kouri Agathi

Abstract excerpt

BACKGROUND: Among the genes implicated in inherited retinal degenerations (IRDs), disease-causing variants in IDH3A have recently been reported, although they remain exceedingly rare. In some cases, these variants are associated with macular pseudocoloboma. IDH3A encodes the alpha subunit of the mitochondrial NAD+-dependent isocitrate dehydrogenase 3 (IDH3) complex, a key enzyme in the tricarboxylic acid (TCA)...

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Identifiers

PMID: 41250664
DOI: 10.1080/13816810.2025.2590165

Genes

IDH3A
RPE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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