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Abstract Background To examine the astigmatism characteristics and surgical outcomes in patients with unilateral severe congenital ptosis following frontalis suspension surgery. Methods We included 53 congenital ptosis patients who underwent frontalis suspension surgery in Hunan Children's Hospital. Each patient underwent a refractive examination before and after surgery to assess astigmatism. We also evaluated the effects and complications associated with the procedure. Results Degree of astigmatism in ptotic and fellow eyes was − 1.45 ± 0.59 D and − 0.66 ± 0.51 D before surgery. Ratio of severe astigmatism in ptotic and fellow eyes was 51.3 and 12.8%. The fellow eyes presented with with-the-rule astigmatism (WR; 71.8%) and against-the-rule astigmatism (AR; 20.5%) types, with no cases of oblique astigmatism (OA). Ptotic eyes demonstrated higher frequencies of AR (59.0%) and OA (10.2%) than did fellow eyes. Furthermore, the former showed increased astigmatism, followed by a gradual decrease at the 6-month, before significantly decreasing at the 1-year postoperatively. The ratio of postoperative AR and OA astigmatism cases in ptotic eyes decreased to 35.9 and 7.7% 1 month postoperatively. However, there was a postoperative increase in the WR ratio from 30.8 to 56.4% after 1 month. Kaplan-Meier survival analysis showed a success rate of 81.4% at 6 months and 62.9% at 12 months which was influenced by the following complications: suture reaction, epithelial keratopathy, infection and granuloma, lid lag, and recurrence. Conclusion Monocular congenital ptosis could develop severe astigmatism and higher frequency of AR or OA, early surgery may ameliorate astigmatic amblyopia.

Background: Congenital cataract is one of the most common causes of blindness in children. A rapid and accurate genetic diagnosis benefit the patients in the pediatric department. The current study aims to identify the genetic defects in a congenital cataract patient without a family history.Case presentation: A congenital cataract patient with microphthalmia and nystagmus was recruited for this study. Trio-based whole-exome sequencing revealed a de novo variant (c.394delG, p.V132Sfs*15) in CRYGC gene. According to the American College of Medical Genetics and Genomics (ACMG) criteria, the variant could be annontated as pathogenic.Conclusion: Our findings provide new knowledge of the variant spectrum of CRYGC gene and are essential for understanding the heterogeneity of cataracts in the Chinese population.

Abstract Background Migraine is a neurological disease with a significant genetic component and is characterized by recurrent and prolonged episodes of headache. Previous epidemiological studies have reported a higher risk of dementia in migraine patients. Neuroimaging studies have also shown structural brain atrophy in regions that are common to migraine and dementia. However, these studies are observational and cannot establish causality. The present study aims to explore the genetic causal relationship between migraine and dementia, as well as the mediation roles of brain structural changes in this association using Mendelian randomization (MR). Methods We collected the genome-wide association study (GWAS) summary statistics of migraine and its two subtypes, as well as four common types of dementia, including Alzheimer’s disease (AD), vascular dementia, frontotemporal dementia, and Lewy body dementia. In addition, we collected the GWAS summary statistics of seven longitudinal brain measures that characterize brain structural alterations with age. Using these GWAS, we performed Two-sample MR analyses to investigate the causal effects of migraine and its two subtypes on dementia and brain structural changes. To explore the possible mediation of brain structural changes between migraine and dementia, we conducted a two-step MR mediation analysis. Results The MR analysis demonstrated a significant association between genetically predicted migraine and an increased risk of AD (OR = 1.097, 95% CI = [1.040, 1.158], p = 7.03 × 10− 4). Moreover, migraine significantly accelerated annual atrophy of the total cortical surface area (-65.588 cm2 per year, 95% CI = [-103.112, -28.064], p = 6.13 × 10− 4) and thalamic volume (-9.507 cm3 per year, 95% CI = [-15.512, -3.502], p = 1.91 × 10− 3). The migraine without aura (MO) subtype increased the risk of AD (OR = 1.091, 95% CI = [1.059, 1.123], p = 6.95 × 10− 9) and accelerated annual atrophy of the total cortical surface area (-31.401 cm2 per year, 95% CI = [-43.990, -18.811], p = 1.02 × 10− 6). The two-step MR mediation analysis revealed that thalamic atrophy partly mediated the causal effect of migraine on AD, accounting for 28.2% of the total effect. Discussion This comprehensive MR study provided genetic evidence for the causal effect of migraine on AD and identified longitudinal thalamic atrophy as a potential mediator in this association. These findings may inform brain intervention targets to prevent AD risk in migraine patients.