Ophthalmic genetics
IDH3A-related retinal dystrophy with bilateral macular pseudocoloboma in a 2-month-old infant.
Eleftheria P Mavridou, Anna Mourgela, Margarita Papadopoulou, Agathi Kouri
Published: 202510.1080/13816810.2025.2590165
Abstract
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 pseudoco…
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