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Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1.

Pediatric nephrology (Berlin, Germany) - 1 Aug 2024

Shimabukuro Wataru, Chinen Yasutsugu, Imanaga Naoya, Yanagi Kumiko, Kaname Tadashi, Nakanishi Koichi

Abstract excerpt

Renal coloboma syndrome (RCS) and dominant optic atrophy are mainly caused by heterozygous mutations in PAX2 and OPA1, respectively. We describe a patient with digenic mutations in PAX2 and OPA1. A female infant was born without perinatal abnormalities. Magnetic resonance imaging at 4 months of age showed bilateral microphthalmia and optic nerve hypoplasia. Appropriate body size was present at 2 years of age, and...

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Identifiers

PMID: 38467926
DOI: 10.1007/s00467-024-06347-z

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