Autophagy-lysosome pathway alteration in ocular surface manifestations in Fabry disease patients

Abstract Background Fabry disease (FD) is a rare X-linked, lysosomal storage disorder caused by mutations in the alpha-galactosidase gene and characterized by neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and ocular manifestations. The aim of this study is to characterize morphological, functional and autophagy-lysosome pathway alterations of the ocular surface in FD patients. Methods Eleven subjects with a diagnosis of FD and fifteen healthy control subjects were examined. All patients underwent ocular surface slit lamp examination, corneal aesthesiometry and in vivo confocal laser-scanning microscopy (CCM). Conjunctival impression cytology was performed in six FD patients and six controls, to assess for expression of two markers of the autophagy-lysosome pathway: the microtubule-associated protein light chain 3 (LC3) and lysosome-associated membrane protein 2 (LAMP2). Results Cornea verticillata and increased conjunctival vessel tortuosity were detected respectively in 67% and 33% of patients with FD. Compared with healthy subjects, patients affected by FD showed a significant reduction in corneal nerve fiber length, density and nerve branching on CCM and a significantly increased expression of LC3 on conjunctival impression cytology (p < 0.001). No changes were observed in the conjunctival expression of LAMP2 between the two groups. Conclusions This study shows that FD is associated with ocular surface alterations including corneal and conjunctival morphology, innervation and vascularization changes. Our data demonstrate an increased expression of LC3 protein in patients with FD, suggesting that alteration of the autophagy-lysosome pathway may play a role in the occurrence of ocular manifestations

Effect of COVID-19 quarantine on refractive errors in children aged 5 – 12 years: a retrospective study

Purpose: the COVID-19 quarantine led children to spend significantly more time indoors on near-work activities and digital devices. This study aims to explore whether these lifestyle changes had any effect on the prevalence of myopia among children aged 5 – 12 years1-3 . Subjects, Materials and Methods: retrospective study conducted in Italy. Population: children aged 5 – 12. Selection: random. Inclusion criteria: healthy children presenting for a routine eye exam since 2016. Exclusion criteria: presence of ocular comorbidities other than refractive error, spherical equivalent less than -4D or greater than +4D, BCVA less than 20/20, blepharoptosis, media opacities, corneal or retinal dystrophies, strabismus, amblyopia, nystagmus, or concurrent therapy with atropine 0.01%. Outcome measure: age measured in months, spherical equivalent (SE) of the right eye (RE) measured in diopters (D) under cycloplegia (cyclopentolate 1%). Statistical analysis: ANOVA, Chi-square, Tukey’s test. Significance: p &lt; .05. Results: a total of 803 children. In the years prior to COVID-19, the mean SE ± SD diopters in the RE: 0.54 ± 1.49 D in 2016 (n = 160), 0.43 ± 1.84 D in 2017 (n = 145), 0.34 ± 1.41 D in 2018 (n = 152), 0.35 ± 1.75 D in 2019 (n = 166) (ANOVA, p = .659). In 2021 (n = 180), the mean SE was -0.08 ± 1.44 D (ANOVA, p = .005). Using the Tukey’s test, the mean SE of 2021 changed by -0.619 D [-1.091, -0.147] 95% C.I. and -0.501 D [-0.986, -0.016] 95% C.I. as compared to the SE of 2016 and 2017, respectively. Mean age was comparable in all groups (ANOVA, p = .307). The decrease of the mean SE of the 2021 group corresponds to an increase in the percentage of myopes (≤-0.5D) and a decrease in the percentage of hyperopes (≥ 2D). Myopes represent the 24.10% of children aged 60 – 96 months, and 63.86% of children aged 97 – 144 months. Hyperopes represent 9.64% of children aged 60 – 96 months, and 6.02% of children aged 97 – 144 months. This represents a statistically-significant increase in the number of myopes (Chi- square, p = .016) and decrease in the number of hyperopes (Chi-square, p = .001), as compared to the previous years (2016-2019). Conclusions: this retrospective study shows a statistically- significant decrease in the mean SE in children aged 5-12 in the year following the COVID-19 quarantine (2021). The percentage of myopes has increased significantly, while the percentage of hyperopes has decreased. Children aged 97 – 144 months showed the greatest refractive change. The lifestyle changes imposed by the quarantine led children to spend more time on near-work activities and digital devices, which are both known risk factors for the onset and progression of myopia. These lifestyle changes were likely responsible for the increased prevalence of myopia observed in the post-quarantine yea

Effect of COVID-19 lockdown on refractive errors in Italian children aged 5–12 years: a multi-center retrospective study

Purpose: to explore the potential consequences of the COVID-19 lockdown on the prevalence of myopia among Italian children aged 5-12 years. Materials and methods: retrospective multicenter study conducted in Italy. Population: children aged 5-12. Selection: random selection of children who received an eye exam between 2016 to 2021. Inclusion criteria: healthy children presenting for a routine eye exam. Exclusion criteria: presence of ocular comorbidities other than refractive error, such as blepharoptosis, media opacities, corneal or retinal dystrophies, strabismus, amblyopia, or concurrent therapy with atropine 0.01%. Outcome measure: age and spherical equivalent (SE) measured in diopters (D) in the right eye (RE) in cycloplegia. Statistical analysis: ANOVA test. Results: total of 803 children. In the years prior to COVID-19, the mean SE ± SD of healthy age-school children was: 0.54 ± 1.49 D in 2016; 0.43 ± 1.84 D in 2017; 0.34 ± 1.41 D in 2018; 0.35 ± 1.75 D in 2019 (ANOVA, p = .659). In 2021, the mean SE changed to -0.08 ± 1.44 D (ANOVA, p = .005). Mean age was comparable in all groups (ANOVA, p = .307). The prevalence of myopes (SE ≤-0.5D) and hyperopes (SE ≥ 2D) was respectively 24.10% and 9.64% among children aged 60-96 months, and 63.86% and 6.02% among children aged 97-144 months. These values represent a statistically-significant increase in the number of myopes (Chi-square, p = .016) and decrease in the number of hyperopes (Chi-square, p = .001), as compared to previous years (.06 and.48 respectively). Conclusion: this retrospective study shows a statistically-significant decrease in the mean SE in children aged 5-12 in the year following the COVID-19 lockdown. The percentage of myopes has increased significantly, while the percentage of hyperopes has decreased. The lifestyle changes caused by the lockdown led children to spend more time on near-work activities and digital devices, and less time outdoors. These are known risk factors for the development and progression of myopia. Studies in different countries are encouraged

Topical antibiotic prophylaxis before intravitreal injections: a pilot study

Purpose: To explore whether topical antibiotic prophylaxis in patients scheduled for intravitreal injections achieves surface sterility in a greater proportion of subjects as compared to povidone-iodine alone. Material and methods: A randomized, triple-blind clinical trial. Population: patients scheduled for intravitreal injections for maculopathy. Inclusion criteria: any sex and race, age 18&nbsp;years and above. Subjects were randomized into 4 groups: the first group applied chloramphenicol (CHLORAM), the second netilmicin (NETILM), the third a commercial ozonized antiseptic solution (OZONE), and the fourth applied no drops (CONTROL). Outcome variable: percentage of non-sterile conjunctival swabs. Specimens were collected before and after the application of 5% povidone-iodine moments before the injection. Results: Ninety-eight subjects (33.7% females, 64.3% males), mean age: 70.2 ± 9.3&nbsp;years (54-91). Before povidone-iodine, both the CHLORAM and NETILM group showed a lower percentage of non-sterile swabs (61.1% and 31.3% respectively), as compared to the OZONE (83.3%) and CONTROL (86.5%) groups (p &lt; .04). However, this statistical difference was lost after the application of povidone-iodine for 3&nbsp;min. Percentage of non-sterile swabs in each group after applying 5% povidone-iodine: CHLORAM 11.1%, NETILM 12.5%, CONTROL 15.4%, OZONE 25.0%. This was not statistically significant (p &gt; .05). Conclusions: Topical antibiotic prophylaxis with chloramphenicol or netilmicin drops decreases the bacterial load on the conjunctiva. However, after the application of povidone-iodine, all groups showed a significant reduction in the percentage of non-sterile swabs, and this value was comparable among all groups. For this reason, authors conclude that povidone-iodine alone is sufficient and prior topical antibiotic prophylaxis is not indicated