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Heterozygous mutation of PAX6 in humans leads to congenital aniridia (OMIM 106210) which is typified by congenital iris and foveal defects, and later onset glaucoma, aniridic keratopathy, and cataract. Mice heterozygous for Pax6 mutations phenocopy many aspects of aniridia including the iris defects, keratopathy and cataract, although Pax6 mutant mice have small lenses, a phenotype which is not typically reported in human aniridia, perhaps due to difficulties in measuring lens diameter during typical ophthalmic examinations as the lens periphery is shielded by the iris. In order to overcome this, records of patients diagnosed with congenital aniridia between April 2015 and May 2021 at the Necker-Enfants Malades Hospital, and genetically confirmed with a disease-causing PAX6 variant, were retrospectively reviewed for those with normal axial length whose iris defects allowed visualization of the lens margins and corneal diameter to allow calculation of a lens/corneal diameter ratio. This value was compared with values obtained from a cohort of patients with Sjödell grade IV oculocutaneous albinism type 1 (OCA1; OMIM 203100) which allowed visualization of the lens periphery via iris transillumination. This analysis revealed that patients with congenital aniridia had a significantly lower lens/corneal ratio when compared to those with albinism, suggesting that humans haploinsufficient for PAX6, like mice, rats, frogs, and zebrafish, exhibit reductions in lens size., Competing Interests: Declaration of competing interest None., (Copyright © 2023 Elsevier Ltd. All rights reserved.)

Purpose: To study the frequency and types of strabismus in congenital aniridia, the presence of associated nystagmus, foveal hypoplasia, and congenital cataracts., Design: Prospective, single-center cohort study., Methods: A review was conducted of 379 medical records of congenital aniridia patients who had a follow-up at the Necker-Enfants malades University Hospital between 2006 and 2022; the target age was between 12 months and 30 years. Ophthalmologic and orthoptic assessments according to age were performed. Strabismus was further analyzed according to the type of aniridia, foveal hypoplasia, and laterality of congenital cataract., Results: Strabismus was diagnosed in 150 patients; 73 were included in the study (28 males [38%] and 45 females [62%]), with a mean age of 11.02 years. The mean follow-up was 24 months. Thirty-six (49.3%) presented with familial aniridia, and 37 (50.7%) presented with sporadic aniridia. Thirty-six (49.3%) were diagnosed with esotropia, 37 (50.7%) had exotropia. Nystagmus was detected in 70 patients (96%). Thirty-nine (53.4%) suffered from congenital cataract, 10 unilateral (25.7%) and 29 bilateral (74.3%). Foveal hypoplasia was found in 73 cases (100%); esotropia was predominant in all grades. PAX6 mutation was found in 56 patients (77%)., Conclusion: Strabismus is one of the clinical signs of congenital aniridia. The laterality of congenital cataracts seems to affect the type of strabismus. The grade of foveal hypoplasia has little impact on strabismus but is prevalent for nystagmus. Foveal hypoplasia affects optical focus, which is essential for binocularity; this could explain the poor binocular adjustment leading to strabismus without exotropia or esotropia predominance., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Background: Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder related to CYP27A1 biallelic mutations, leading to decreased synthesis of bile acids and increased cholestanol. Juvenile bilateral cataracts are one of the most common findings in the disease, frequently occurring before the onset of neurological manifestations. While early treatment with chenodeoxycholic acid can prevent the onset of neurological impairment, poor awareness of CTX accounts for a markedly delayed diagnosis. The objective of this study was to evaluate the utility of plasma cholestanol analysis at the moment of cataract diagnosis and before the onset of neurological impairment in CTX., Methods: Multicenter prospective cohort study of patients with juvenile-onset unexplained bilateral cataracts recruited from seven French ophthalmology departments. Plasma cholestanol analysis was performed at diagnosis from January 2018 to January 2020. CYP27A1 genetic testing was performed at the ophthalmologist's discretion. Cholestanol levels were compared with those of a similar population of patients without cataracts (control cohort)., Results: 30 patients were finally recruited, with a mean age at cataract diagnosis of 7.1 years (± 4.8 SD, range 1-19 years). One patient had a very high cholestanol level (68 μmol/L, reference < 10) and carried two pathogenic heterozygous mutations in CYP27A1 confirming CTX. This patient was a 19-year-old female, reporting chronic diarrhea only in childhood, and diagnosed with bilateral posterior cataracts with cortical fleck-like opacities. Therefore, the incidence of CTX in our cohort of patients was 3.3%. Five further patients (5/29; 17.2%) had moderate elevations of cholestanol level (between 10.3 and 16.5 μmol/L), compared to 12/286 (4.2%) in the control cohort (p = 0.014) after adjustment for age., Conclusion: Our study argue for the relevance of plasma cholestanol CTX screening in all patients with juvenile-onset unexplained cataracts, even without other CTX identified manifestations. Whether moderate elevations of plasma cholestanol unrelated to CTX may be a risk factor for bilateral cataracts occurrence needs further examination., (© 2022. The Author(s).)

Objective: This study aims to evaluate surgical training in ophthalmology through feedback from residents., Materials and Methods: An anonymous questionnaire was created, including 20 items which assessed the number of complete or partial surgical procedures performed during a semester, self-assessment of surgical skills, use of surgical simulators, an overall rating of the surgical training received and some suggestions to improve surgical training. It was sent by email to all residents in training in Île-de-France (DES Île-de-France and Inter-CHU), France., Results: From October 23 to November 7, 2021, 89/137 residents responded to the questionnaire (65%). Since the beginning of their residency, ninety percent of the residents received training using simulators. Over 90% performed all of the technical steps of a "standard" cataract surgery at least once during the semester, and 60% 10 times or more. The least performed technical steps or procedures also received the lowest self-assessment: management of expulsive hemorrhage, open-globe or lacrimal laceration wound suturing, capsular tension ring injection, and intraocular lens explantation. Residents gave an overall average rating of 6.6/10 to their training and suggested some feedback on videos of resident surgeries (67%) and theoretical courses dealing with surgical techniques (61%)., Discussion: The increasing use of simulators should improve surgical training. Residents express the need for training regarding surgical complications and emergencies as well as improvement of their technical skills via improved feedback., Conclusion: Surgical teaching appears suitable for learning cataract surgery but seems less effective for the management of emergencies and intraoperative complications., (Copyright © 2022 Elsevier Masson SAS. All rights reserved.)

Introduction: Prevention of visual impairment due to congenital cataract is an international priority as part of VISION 2020 - The Right to Sight, the joint initiative of the World Health Organization and the International Agency for the Prevention of Blindness. The present study is part of the Epidemiology and Safety (EPISAFE) collaborative program aiming at assessing the epidemiology and safety of interventions in ophthalmology., Methods: All children who underwent cataract surgery before the age of 1 year in France between January 2010 and December 2012 were identified by using the Programme de Médicalisation des Systèmes d'Information., Results: In 3 years, 532 children (699 eyes; 46.6% girls) had cataract surgery before the age of 1 year; 31.4% had bilateral surgery. During the first year of life, the incidence of cataract surgery was 2.15/10,000 births. The median (interquartile range) age at surgery was 3.5 (2.2-4.8) months for children with unilateral cataract and 4.0 (2.2-7.2) months for children with bilateral cataract. Of the 699 operated eyes, 76.49% received intraocular lens implantation during the cataract surgery., Conclusions: The incidence of congenital cataract surgery observed in France is close to that in the literature in the industrialized world, which is estimated at 1-3/10,000 births. The timing of surgery is critical for visual development. Surgery was performed younger in children with monocular cataracts than in those with bilateral cataracts., (© 2017 S. Karger AG, Basel.)

Purpose: To identify areas of consensus and disagreement in the management of paediatric cataract using a modified Delphi approach among individuals recognised for publishing in this field., Design: A modified Delphi method., Participants: International paediatric cataract experts with a publishing record in paediatric cataract management., Methods: The process consisted of three rounds of anonymous electronic questionnaires followed by a face-to-face meeting, followed by a fourth anonymous electronic questionnaire. The executive committee created questions to be used for the electronic questionnaires. Questions were designed to have unit-based, multiple choice or true-false answers. The questionnaire included issues related to the preoperative, intraoperative and postoperative management of paediatric cataract., Main Outcome Measure: Consensus based on 85% of panellists being in agreement for electronic questionnaires or 80% for the face-to-face meeting, and near consensus based on 70%., Results: Sixteen of 22 invited paediatric cataract surgeons agreed to participate. We arrived at consensus or near consensus for 85/108 (78.7%) questions and non-consensus for the remaining 23 (21.3%) questions., Conclusions: Those questions where consensus was not reached highlight areas of either poor evidence or contradicting evidence, and may help investigators identify possible research questions., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/)

Background: Eye infections can be vision-threatening and must be treated effectively by appropriate and safe use of topical ophthalmic anti-infectives. This review will essentially consider the current and evolving treatment options for the various types of bacterial eye infections. Ocular surface bacterial infections affect subjects of all ages with a high frequency in newborns and children. Methods: This article presents a review of the peer-reviewed published scientific literature in order to define the well-established uses of anti-infective eye drops in the field of ocular infections. A comprehensive search of the recent published literature including topical ophthalmic anti-infectives effective in bacterial ocular infections was performed. Clinical studies provide relevant data concerning the characteristics and clinical efficacy of antibacterial eye drops in ocular anterior segment infections or for perioperative prophylaxis. Publications were included to cover the current options of antibacterial eye drops available in Europe. Results: Several recent publications identified effective topical ocular antibacterials requiring a reduced dose regimen and a short treatment course. Additional literature reviewed included data on novel perioperative prophylaxis, indications for topical fortified antibiotics and innovative research including the risk of resistance. Conclusions: Safe and effective topical antibiotic eye drops for the treatment and prevention of ocular infections must be adapted to the type of bacteria suspected. Usual topical antimicrobials should be replaced by more recent and more effective treatments. The use of highly effective fluoroquinolones should be reserved for the most severe cases to avoid resistance. Short treatment courses, such as azithromycin, can be easily used in children, thereby improving quality of life. [ABSTRACT FROM AUTHOR]