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NMNAT1-ASSOCIATED CONE-ROD DYSTROPHY: EVIDENCE FOR A SPECTRUM OF FOVEAL MALDEVELOPMENT.

Retinal cases & brief reports - 1 May 2022

Bedoukian Emma C, Zhu Xiaosong, Serrano Leona W, Scoles Drew, Aleman Tomas S

Abstract excerpt

PURPOSE: To describe in detail the phenotype of two siblings with biallelic NMNAT1 mutations. METHODS: A 4-year-old male patient (P1) and his 7-year-old sister (P2), product of a nonconsanguineous union of Egyptian ancestry, underwent a comprehensive ophthalmic examination, retinal imaging with spectral domain optical coherence tomography and near infrared (NIR) fundus autofluorescence (FAF), and full-field...

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PMID: 32150116
DOI: 10.1097/ICB.0000000000000992

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