A Japanese boy with Bardet-Biedl syndrome caused by a novel homozygous variant in the ARL6 gene who was initially diagnosed with retinitis punctata albescens: A case report.

Keitaro Mizumoto,Kumiko Kato,Kaoru Fujinami, Tadasu Sugita,Iichiro Sugita,Ayako Hattori,Shinji Saitoh,Shinji Ueno,Kazushige Tsunoda,Takeshi Iwata,Mineo Kondo

Medicine（2022）

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摘要

In children with night blindness and progressive visual dysfunction, it is important for ophthalmologists to consult clinical geneticists and pediatricians to rule out the possibility of systemic diseases such as BBS.

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关键词

ARL6, Bardet-Biedl syndrome, BBS3, polydactyly, retinitis pigmentosa, retinitis punctata albescens

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