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Purpose: To study the clinical profile of patients with microspherophakia and the factors associated with poor vision following lensectomy surgery.

Methods: A multicenter, retrospective, cross-sectional analysis was conducted from January 2010 to June 2022 on patients diagnosed with microspherophakia.

Results: A total of 102 eyes from 51 patients were enrolled, of whom 24 (47.

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: To study and evaluate the change in retinal nerve fiber layer (RNFL) and macular thickness and its clinical correlation with visual outcome following amblyopia therapy. : In this prospective interventional study, children with moderate to severe amblyopia were given optical correction and part-time occlusion therapy. Visual assessment and optical coherence tomography (OCT) were performed at days 0 and 3, 6 months of follow-up.

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Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees.

Orphanet J Rare Dis

December 2024

Laboratory Medicine Center, Department of Genetic and Genomic Medicine, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, Zhejiang, China.

Background: GTPBP3 catalyzes τm(s) U biosynthesis at the 34th wobble position of mitochondrial tRNAs, the hypomodification of τmU leads to mitochondrial disease. While twenty-three variants of GTPBP3 have been reported worldwide, the genetic landscape in China remains uncertain.

Methods: By using whole-exome sequencing, the candidate individuals carrying GTPBP3 variants were screened and identified.

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Purpose: To evaluate the differences in the level of concerns regarding exotropia surgery according to the perspectives regarding surgery and basic characteristics of parents of pediatric patients with intermittent exotropia in Korea.

Methods: This study included the parents of pediatric patients with intermittent exotropia who underwent surgery at five hospitals, between June 2022 and February 2023. Parental perspectives, basic characteristics, and levels of concern regarding surgery were assessed using a questionnaire.

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Diabetes mellitus (DM) is a chronic metabolic non-communicable disease with the ability to cause serious microvascular and macrovascular complications throughout the body, including in the eye. Diabetic retinopathy (DR), present in one-third of patients with diabetes, is a vision-threatening complication caused by uncontrolled diabetes, which greatly affects the retinal blood vessels and the light-sensitive inner retina, eventually leading to blindness. Several epidemiological studies elucidate that DR can vary by age of onset, duration, types of diabetes, and ethnicity.

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