Article
RTN4IP1-associated non-syndromic optic neuropathy and rod-cone dystrophy.
Ophthalmic genetics - 1 Jun 2024
Gupta Priya R, O'Connell Kaitlin, Sullivan Jack M, Huckfeldt Rachel M
Abstract excerpt
BACKGROUND: Biallelic variants in RTN4IP1 are a well-established cause of syndromic and nonsyndromic early-onset autosomal recessive optic neuropathy. They have more recently been reported to cause a concomitant but later-onset rod-cone dystrophy with or without syndromic features. METHODS: A comprehensive evaluation was performed that included assessment of visual and retinal function, clinical examination, and...
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