Leber congenital amaurosis as the initial and essential manifestation in a Chinese patient with autoimmune polyglandular syndrome Type 1.

Purpose: Autoimmune polyglandular syndrome Type 1 (APS-1) is a rare autosomal recessive disorder caused by defects in the autoimmune regulator (AIRE) gene. Patients are generally diagnosed at ages between five and fifteen years when they exhibit three or more manifestations, most typically mucocutaneous candidiasis, autoimmune Addison's disease, and hypoparathyroidism. Our study aims to report the first case of a Chinese APS-1 patient, presented with LCA as the initial and essential clinical feature of this rare syndrome.

Comparison of pre-chop technique using a reverse chopper and classic stop-and-chop technique in the treatment of high myopia associated with nuclear cataract.

Background: To evaluate the safety and efficacy of the pre-chop technique using a novel reverse chopper vs. the classic stop-and-chop technique in phacoemulsification for patients with high myopia and associated grade III-IV nuclear cataracts.

Methods: In this prospective cohort study, a total of 44 consecutive patients (44 eyes) with grade III-IV nuclear cataracts who were admitted to our hospital for cataract surgery between March 2018 and September 2018 were enrolled.

Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort.

ABCA4 gene associated retinal dystrophies (ABCA4-RD) are a group of inherited eye diseases caused by ABCA4 gene mutations, including Stargardt disease, cone-rod dystrophy and retinitis pigmentosa. With the development of next-generation sequencing (NGS), numerous clinical and genetic studies on ABCA4-RD have been performed, and the genotype and phenotype spectra have been elucidated. However, most of the studies focused on the Caucasian population and limited studies of large Chinese ABCA4-RD cohorts were reported.

variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa.

Aims: To reveal the Usher syndrome type IIA () gene variant profile in a large cohort of Chinese patients with non-syndromic retinitis pigmentosa (RP) or Usher syndrome type II (USH2) and to explore the genotype-phenotype correlation.

Methods: Targeted exome capture plus next-generation sequencing confirmed that 284 patients from 260 unrelated Chinese families carried disease-associated variants. Both personal medical history and family histories were reviewed.