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Article

Transient pupillary light reflex in CEP290- or NPHP5-associated Leber congenital amaurosis: Latency as a potential outcome measure of cone function.

Vision research - 1 Mar 2020

Krishnan Arun K, Jacobson Samuel G, Roman Alejandro J, Iyer Bhavya S, Garafalo Alexandra V, Héon Elise, Cideciyan Artur V

Abstract excerpt

Mutations in photoreceptor cilium genes CEP290 and NPHP5 cause a form of Leber congenital amaurosis (LCA) which typically lacks rods but retains central cones. The current study evaluated the transient pupillary light reflex (TPLR) as an objective outcome measure to assess efficacy of ongoing and future therapies. Eleven eyes of six patients selected for retained cone function were tested with TPLR using...

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Identifiers

PMID: 32088401
DOI: 10.1016/j.visres.2020.01.006
PMCID: PMC7068155

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