Genotype-phenotype correlations in Chinese patients with congenital stationary night blindness and early-onset high myopia: evidence from electrophysiology and whole-exome sequencing

AIM: To identify pathogenic variants in families with congenital stationary night blindness (CSNB) accompanied by early-onset high myopia (eoHM) using whole-exome sequencing (WES), and to evaluate the clinical value of electrophysiological and genetic testing for the differential diagnosis of CSNB,...

Whakaahuatanga katoa

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Ngā kaituhi matua:	Rui Qi, Qi Zhou, Mei-Jiao Ma, Yuan-Yuan Lian, Wei-Ning Rong, Xun-Lun Sheng
Hōputu:	Artigo
Reo:	Inglês
I whakaputaina:	Press of International Journal of Ophthalmology (IJO PRESS) 2026-06-01
Rangatū:	International Journal of Ophthalmology
Ngā marau:	early-onset high myopia congenital stationary night blindness amblyopia electroretinography gene mutation
Urunga tuihono:	https://www.ijo.cn/gjyken/article/pdf/20260618
Ngā Tūtohu:	Tāpirihia he Tūtohu Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!