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The inner retina was mostly within normal limits. There was central depigmentation on near infrared fundus autofluorescence. Biallelic mutations were identified in NMNAT1 One was previously reported (c.769 GA; pGlu257Lys), and the other one (c.245TC; pVal82Ala) was novel. CONCLUSION NMNAT1 mutations cause a consistent phenotype characterized by early-onset, progressive, conerod retinawide dysfunction and predominantly central abnormalities ranging from a hypoplastic to an atrophic fovea, supporting a critical role for NM

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