CHORIORETINAL CHANGES IN A GENETICALLY CONFIRMED CASE OF BOUCHER-NEUHÄUSER SYNDROME.

Brittany B DeNaro,Elona Dhrami-Gavazi, David M Rubaltelli,K Bailey Freund,Winston Lee,Lawrence A Yannuzzi,Stephen H Tsang,Joann J Kang

Retinal cases & brief reports（2021）

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摘要

Recognition that the chorioretinal abnormalities occurring in BNS can be rather subtle is essential because the diagnosis of BNS may depend on their detection. To the best of our knowledge, this is the first report in the ophthalmic literature of mild chorioretinal changes in a patient with BNS testing positive for a mutation in the PNPLA6 gene.

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