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RTN4IP1 -associated non-syndromic optic neuropathy and rod-cone dystrophy.

Priya R GuptaKaitlin O'ConnellJack M SullivanRachel M Huckfeldt
Published in: Ophthalmic genetics (2024)
RTN4IP1-associated early-onset bilateral optic neuropathy with rod-cone dystrophy is a recently described clinical entity with limited reports available to-date. The present case provides additional support for this dual phenotype and identifies a novel causative variant.
Keyphrases
  • early onset
  • late onset
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  • genome wide
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