We present a case of an optic nerve coloboma in a 10-month-old girl found to have compound heterozygous USH2A variants. There were no other dysmorphic features or ocular developmental anomalies. To our knowledge, this is the first report in literature of a concomitant optic nerve coloboma in a case of nonsyndromic retinitis pigmentosa related to USH2A variants.
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Levine et al. (2025) studied this question.
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