The increasing global prevalence of myopia represents a major public health concern. This perspective article aligns with the research theme of the special issue on Interventional Modalities for the Prevention and Management of Childhood Myopia. In progressive myopia, the goal is to implement reliable early-life strategies to control myopia and reduce the risk of high myopia. We propose the PREC framework (Prevent, Recognize, Evaluate, and Control) for childhood myopia. Each component is detailed to support individualized myopia management. However, further evidence is required to establish robust guidelines and optimize management strategies, particularly for non-isolated myopia.

Leber congenital amaurosis (LCA) and Early-onset severe retinal dystrophy (EOSRD) manifest within the first months and the first years of life, respectively. They are the leading cause of severe vision impairment in childhood. Using next generation sequencing, we identified eight families of patients with LCA/EOSRD carrying biallelic combination of six germline variants in DDX41 , encoding a DEAD-box ATPase RNA helicase involved in RNA splicing, innate immunity and hematopoiesis. In fibroblasts from a patient carrying the homozygous missense variant c.1187T>C (p. Ile396Thr) and in the retina of Ddx41 I396T/I396T mice, DDX41 protein expression was decreased. Electroretinogram recordings in these animals also revealed significant visual dysfunction since the first month of age, supporting a pathogenic role of DDX41 in retinal physiology. Immunohistochemical staining showed that the protein localized to nuclei in all major retinal cell types and to photoreceptor synapses, while biochemical assays showed that LCA/EOSRD variants disrupt DDX41 interactions with RNA through misfolding or the formation of non-productive aggregates, resulting in loss-of-function. Transcriptomic profiling of mutant mouse retinas revealed dysregulation of gene networks associated with Müller cells (MCs), glial cells essential for maintaining retinal structure, metabolic balance, and immune surveillance. The dysregulated pathways chiefly involved cell morphogenesis and junction formation, consistent with immunohistological analyses of widespread architectural disruption and nuclear disorganization, identifying MCs as a site of dysfunction. Together, these findings establish for the first time the involvement of DDX41 in LCA/EOSRD and provide new insights into the role of helicases in retinal homeostasis.

Purpose To describe a rare, unexplained case of bilateral peripapillary choroidal neovascularization (PPCNV) in a child with X-linked agammaglobulinemia (XLA, Bruton disease). Observation A 13-year-old boy with XLA on regular intravenous immunoglobulin replacement presented with rapidly progressive bilateral vision loss. Best-corrected visual acuity (BCVA) was 20/100 OU. Fundus exam and multimodal imaging confirmed bilateral PPCNV with subretinal fluid. Extensive systemic, infectious, and immunologic investigations, including MRI, CT, cerebrospinal fluid, and broad serology panels, were unrevealing; interpretation of serologies was confounded by IVIG therapy. Intravitreal aflibercept led to initial anatomical and functional improvement, but macular atrophy subsequently developed, with limited visual recovery. No ocular inflammation or congenital optic disc anomaly was identified. Conclusion and importance Pediatric PPCNV is rare and usually secondary to inflammation or congenital anomalies. To our knowledge, this is the first report of PPCNV in XLA. Although the association appears coincidental, collaborative reporting of similar cases is needed to explore possible immunologic contributions and refine treatment strategies.

AIMS:Stickler syndrome is a genetically inherited vitreoretinopathy that can lead to retinal detachment from early childhood. There is currently no consensus preventive treatment. We aimed at determining whether sex influences the age of onset of rhegmatogenous retinal detachment (RRD) in COL2A1 and COL11A1 Stickler patients. METHODS:This is a retrospective study including genotyped Stickler patients from two tertiary centres with at least one RRD. We analysed differences in the age of occurrence of RRD according to sex and genetic mutation. A multivariate analysis was used to analyse risk factors for RRD including sex, presence of preventive treatment, congenital myopia or extra-ophthalmologic conditions. RESULTS:58 patients with at least one RRD were included. In girls with COL2A1 variants (n=30), the average age of RRD onset was later (21.3 (±14.5) years; range: 5.4-66.0), and the age distribution was broader than in boys with COL2A1 variants (n=19, 10.07 (±5.7) years; range: 0.5-19.7; p<0.0001). Among COL11A1 patients, there was no significant difference in age of RRD between boys and girls. Preventive treatment (360° laser or scleral buckling) was the only independent protective factor for RRD (RR=-0.49 (±0.002); p<0.001). CONCLUSION:In COL2A1-Stickler syndrome, males tend to experience RRD at an earlier age. In COL11A1-Stickler patients, RRD occurs earlier in life but no sex difference was found. Based on these findings, if preventive treatment is considered, it should be performed before puberty, particularly earlier in boys with COL2A1-related Stickler syndrome and in both male and female patients with COL11A1 variants.

PURPOSE. Albinism is a genetic disorder characterized by a defect in melanin biosynthesis. Ophthalmological and dermatological impairments vary according to the patient genotype and are highly heterogenous. Recently, variants in the DCT gene were showed to be responsible for a new type of oculocutaneous albinism (OCA) named OCA8. We report the ophthalmological, electrophysiological, and dermatological characteristics of three patients with genetically confirmed OCA8. METHODS. This is a retrospective study of three patients with OCA8. Complete dermatological, ophthalmological, and orthoptic examinations were performed with clinical exploration and multimodal imaging. Visual evoked potentials (VEPs) were performed to characterize chiasmal decussation in two of the three patients. RESULTS. The dermatological phenotype was mild, whereas all three patients exhibited infantile nystagmus syndrome with reduced visual acuity, foveal hypoplasia (grade 3), macular hypopigmentation (graded from 2 to 1), and iris transillumination (grade 3). Patients who could undergo a VEP examination exhibited signs of strong chiasmal misrouting. CONCLUSIONS. Recently, pathogenic variants in the DCT gene were proven to cause OCA. Whereas patients with OCA8 exhibit a milder dermatological phenotype than others, their vision was initially described as impaired. The present report confirms previous findings and suggests that chiasmal misrouting is present in OCA8. This, together with recent findings in the murine model, supports the hypothesis that DCT regulates levels of L-Dopa and downstream signaling in the developing retina. These results convey critical future therapeutic implications.

PURPOSE:The purpose of this study was to report the indications and long-term anatomical and functional results of a series of children operated on by ipsilateral rotational autokeratoplasty. METHODS:This retrospective, multicenter study was based on the medical records of 33 eyes of 31 children who underwent ipsilateral rotational autokeratoplasty in 2 pediatric ophthalmology departments in Paris. The etiology of corneal opacity, preoperative and postoperative visual acuity, size of the trephine used, postoperative complications, refractive error, and duration of follow-up was retrieved. Visual acuity (VA) was converted to logarithm of the minimum angle of resolution. RESULTS:The most frequent indications were corneal scars after ocular trauma (21 cases, 64%), congenital corneal opacities (9 cases, 27%), and postinfectious scars (3 cases, 9%). At last follow-up, 97% of the eyes had a clear visual axis. The mean postoperative VA was 0.83, and mean postoperative astigmatism was 5.41 diopters. When available, VA of the operated eye was equal to or better than 0.3 logarithm of the minimum angle of resolution in 8 cases (32%). The factors significantly associated with a postoperative VA of 0.3 or better were a later age of onset of the opacity ( P < 0.01), a later age at surgery ( P < 0.01), and a posttraumatic mechanism ( P = 0.03). A postoperative complication was found in 13 patients (40%), and consisted most frequently in a wound leakage and/or iris hernia in the early postoperative period. CONCLUSIONS:Ipsilateral rotational autokeratoplasty is an excellent alternative to penetrating keratoplasty in children because the anatomical result seems better and the complication rate less important than in pediatric penetrating keratoplasty, where graft rejection occurs frequently.

Angle lambda (λ) is defined as the angle between the line of sight and the pupillary axis at the entrance pupil. We previously developed a child-friendly and portable method to measure this angle in daily practice. In a given population, angle λ fluctuates according to age or refractive error. As changes in the pupil diameter induce changes in the location of the pupil centre, it was hypothesised that a given subject will exhibit several angles λ, varying with the luminance level. The study aimed to investigate correlations between angle λ and biometric values and to analyse the effects of pupil dilation and entrance pupil location on angle λ. The study was performed on 70 right eyes from 70 participants (58 women, 12 men; mean age 22.91 ± 2.57 years). Angle λ was assessed under photopic and scotopic luminance conditions. Angle λ was also measured under standard luminance conditions in a subgroup of 15 eyes. Axial length, anterior chamber depth, chord μ (coaxial corneal light reflex position) and the optic disc to fovea distance (OFD) were also measured. The pupil centre offset was quantified by digital analysis. Mean photopic and scotopic angle λ values were +2.81 ± 2.34° and +3.30 ± 2.59°, respectively. A negative correlation was found between axial length, anterior chamber depth or OFD and both photopic and scotopic angle λ. A positive correlation was found between spherical equivalent or chord μ and angle λ. The mean pupil offset was significantly higher under photopic than scotopic conditions and was negatively correlated with angle λ for both luminance levels. This study confirms that angle λ is correlated with biometric values. Furthermore, fluctuation of pupil diameter induces variations in angle λ. Thus, a given subject exhibits several angles λ according to the luminance level.

Eye-tracking research offers valuable insights into human gaze behavior by examining the neurophysiological mechanisms that govern eye movements and their dynamic interactions with external stimuli. This review explores the foundational principles of oculomotor control, emphasizing the neural subsystems responsible for gaze stabilization and orientation. Although controlled laboratory studies have significantly advanced our understanding of these mechanisms, their ecological validity remains a critical limitation. However, the emergence of mobile eye tracking technologies has enabled research in naturalistic environments, uncovering the intricate interplay between gaze behavior and inputs from the head, trunk, and sensory systems. Furthermore, rapid technological advancements have broadened the application of eye-tracking across neuroscience, psychology, and related disciplines, resulting in methodological fragmentation that complicates the integration of findings across fields. In response to these challenges, this review underscores the distinctions between head-restrained and naturalistic conditions, emphasizing the importance of bridging neurophysiological insights with experimental paradigms. By addressing these complexities, this work seeks to elucidate the diverse methodologies employed for recording eye movements, providing critical guidance to mitigate potential pitfalls in the selection and design of experimental paradigms.

Albinism is a heterogeneous disorder characterized by both dermatological and ophthalmological expressions. In ophthalmological practice, patients with albinism frequently present with nystagmus and reduced visual acuity, the diagnosis having been made previously on dermatological features, or not. Specific ophthalmological features include iris transillumination, macular hypopigmentation, and foveal hypoplasia, all of them being quantifiable clinically using reproducible grading systems. Refractive errors (most often with-the-rule astigmatism and hypermetropia), along with strabismus (both eso- and exotropia), are also commonly encountered. Anatomical anomaly of the visual pathway, specifically chiasmal misrouting of retinal fibers, is a consistent finding. It potentially results in the presence of an abnormal angle lambda, which can manifest as a pseudo-exotropia appearance. The identification and quantification of all clinical signs allow to fully characterize the patient’s phenotype, and often to make the diagnosis of albinism, from infancy to adulthood.The first step of the ophthalmological management in children consists in screening for amblyopia or amblyogenic factors (such as strabismus and refractive errors). Subsequently, management is typically divided into three key categories. Improvement of visual acuity through cycloplegic refraction and prescription of full optical correction (via spectacles or contact lenses). Management of infantile nystagmus syndrome, which can sometimes benefit from contact lenses, prisms, or surgical interventions. Tailored visual rehabilitation by prescribing spectral filter spectacles and low-vision aids whenever needed.

PURPOSE:To describe and compare the ophthalmologic and extraophthalmologic features of patients with Stickler syndrome because of pathogenic variants in COL2A1 and COL11A1. DESIGN:Retrospective cross-sectional study nested in a multicentric cohort study. METHODS:Records of patients with a confirmed molecular diagnosis of Stickler syndrome followed up in the ophthalmology department at Necker-Enfants Malades and Cochin University hospitals (Paris) between 2016 and 2024 were retrospectively reviewed. Demographic data, clinical findings from ophthalmologic examination, and extraophthalmologic features were recorded. Patients with an incomplete file, lack of genetic evidence despite a compatible clinical phenotype, and those presenting with rare variants were excluded. RESULTS:Among 110 patients with confirmed Stickler syndrome, 90 (82%) had a COL2A1 variant and 20 (18%) a COL11A1 variant. The median age at last follow-up was 24.4 years (IQR 0.9-77.6), and the median follow-up duration was 10.8 years (IQR 4.2-27.3). Retinal detachment occurred in 50% of patients with COL2A1 variants (45/90) and 45% of those with COL11A1 variants (9/20), with no statistically significant difference between groups (P = .81). Twenty-four patients (22%) had a bilateral retinal detachment with a median time for a retinal detachment of the fellow eye of 3.0 (IQR 0-25.2) years. The patients with COL11A1 variants were significantly different from those with COL2A1 variants in terms of deafness frequency (50% [10/20] vs 13% [12/90]; P = .005; 95% CI 13.7%, 59.7%), axial lengths (28.9 ± 3.2 mm vs 26.3 ± 2.3 mm; P < .001; 95% CI +1.20, +4.02), age at retinal detachment onset (9.8 [IQR 5.3-19.7] years vs 13.3 [IQR 0.5-66] years; P = .006; 95% CI -12.44, -2.19), and median time to retinal detachment in the fellow eye (2.0 [IQR 0.2-3] years vs 4.5 [IQR 0-25.2] years; P = .009; 95% CI -7.99, -1.30). CONCLUSIONS:The study highlights phenotypic difference between COL2A1- and COL11A1-related Stickler syndrome, with COL11A1 variants potentially associated with more severe ocular phenotype. Such genotype-phenotype correlations may contribute to refining patient management and guiding prophylactic interventions. These findings could support individualized follow-up strategies; however, confirmation in larger cohorts is warranted.

Diagnosing pseudo-papilloedema (PPO) in children presents challenges and may lead to invasive investigations, with optic disc drusen (ODD) being the most common etiology. Other specific causes include tilted disc, optic neuritis, tumoral infiltration, vitreo-papillary traction, and Leber hereditary optic neuropathy. Peripapillary hyperreflective ovoid mass-like structures (PHOMS) are frequently observed in these cases, yet their pathophysiology remains unexplained, particularly their relation to ODD, which is still debated. Here, we explored whether patients with PPO associated with ODD, or seemingly isolated cases, could exhibit PHOMS without ODD or ODD without PHOMS, and how this might affect retinal nerve fiber layer (RNFL) thickness. In this two-centre retrospective observational study, we included patients under 20 years old presenting with PPO without specific causes, with a subgroup followed for at least one year. Enhanced depth imaging optical coherence tomography was used to assess the presence and evolution of PHOMS and ODD, as well as RNFL thickness. We included twenty-seven patients, with thirteen followed for at least one year. In all eyes, we observed concomitant PHOMS and either deep or superficial ODD. RNFL thickness was increased in patients with deep ODD and decreased in those with superficial ODD, which was observed during follow-up. ODD and PHOMS are concomitant features present in patients with PPO. PHOMS sometimes serve as indicators, as buried ODD are challenging to identify in young children. However, ODD tend to become more superficial over time, while RNFL thickness decreases.

L’aniridie congénitale (AC), souvent liée à une perte de fonction du gène PAX6, est une maladie génétique pan-oculaire caractérisée par une absence partielle ou totale d’iris et une hypoplasie fovéolaire. Les mécanismes de l’apparition d’une hypertonie oculaire et d’un glaucome chez les patients atteints d’AC demeurent encore relativement méconnus. De nombreuses hypothèses ont été formulées et le développement de nouvelles techniques d’imagerie de segment antérieur ont permis d’identifier différents mécanismes potentiels : dysfonctionnement trabéculaire congénital, fermeture progressive de l’angle irido-cornéen, rôle aggravant des chirurgies intra-oculaires. Le diagnostic doit tenir compte des nombreux obstacles à l’examen clinique (opacité cornéenne, cataracte obturante, aplasie fovéolaire, nystagmus important) et est souvent porté par défaut, sur la seule présence d’une hypertonie oculaire. Le glaucome demeure avec l’insuffisance limbique, une des causes majeures de cécité dans l’AC. Le traitement du glaucome de l’AC est avant tout médical. Le rapport bénéfices/risques d’une intervention chirurgicale doit toujours être évalué soigneusement pour ne pas sous-estimer les potentielles complications postopératoires associées à l’AC.

Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare, lysosomal storage disorder that causes pediatric onset neurodegenerative disease. It is characterized by mutations in the TPP1 gene. Symptoms begin between 2 and 4 years of age with loss of previously acquired motor, cognitive, and language abilities. Cerliponase alfa, a recombinant human TPP1 enzyme, is the only approved therapy. We report the first presymptomatic cerliponase alfa intraventricular treatment in a familial case of CLN2 related to a classical TPP1 variant. Sister 1 presented with motor, cognitive, and language decline and progressive myoclonic epilepsy since the age of 3 years, evolved with severe diffuse encephalopathy, received no specific treatment, and died at 11 years. Sister 2 had a CLN2 presymptomatic diagnosis and has been treated with cerliponase since she was 12 months old. She is now 6 years 8 months and has no CLN2 symptom except one generalized seizure 1 year ago. No serious adverse event has occurred. Repeated Wechsler Preschool and Primary Scale of Intelligence, Fourth Edition standardized index scores are heterogeneous in the extremely low to low average ranges. Mean length of utterances, a global index of sentence complexity, showed a delay, but a gradual improvement. The reported case enhances the major contribution of presymptomatic diagnosis and significant middle-term treatment benefit for patients with CLN2.

Spliceosome and ciliary dysfunctions can lead to remarkably similar clinical syndromes. Studying ten individuals with retinal dystrophy, neurological involvement, and skeletal abnormalities, suggestive of both spliceosomopathies and ciliopathies, we involved GPATCH11, a lesser-known GPATCH-domain-containing regulators of RNA metabolism. To elucidate GPATCH11 function, we employed fibroblasts from unaffected individuals and patients carrying a recurring mutation specifically removing the main part of the GPATCH-domain while preserving other domains. Additionally, we generated a mouse model replicating the patient's genetic defect, exhibiting behavioural abnormalities and retinal dystrophy. Our findings revealed GPATCH11 unique subcellular localization, marked as foci staining pattern and a diffuse presence in the nucleoplasm, alongside its centrosomal localization, indicating roles in RNA and cilia metabolism. We show dysregulation of U4 snRNA in patient cells and dysregulation in both gene expression and spliceosome activity within the mutant mouse retina, impacting key processes such as photoreceptor light responses, RNA regulation, and primary cilia-associated metabolism. These results highlight GPATCH11 roles in RNA metabolism, spliceosome regulation, and potential ciliary involvement. They underscore its significance in maintaining proper gene expression, contributing to retinal, neurological, and skeletal functions. Our research also demonstrates how studying rare genetic disorders can reveal broader gene functions, providing insights into GPATCH11 multifaceted roles.

Acta OphthalmologicaEarly View LETTER TO THE EDITOR Myopia: Insights from a population-based survey Matthieu P. Robert, Corresponding Author Matthieu P. Robert [email protected] [email protected] orcid.org/0000-0003-3353-8117 Ophthalmology Department, Necker-Enfants Malades University Hospital, APHP, Paris, France Borelli Centre, UMR 9010, CNRS-SSA-ENS Paris Saclay-Paris Cité University, Paris, France Correspondence Matthieu P. Robert, Ophthalmology Department, Necker-Enfants Malades University Hospital, APHP, 149 rue de Sèvres, 75015 Paris, France. Email: [email protected] and [email protected]Search for more papers by this authorAlejandra Daruich, Alejandra Daruich orcid.org/0000-0001-7907-4325 Ophthalmology Department, Necker-Enfants Malades University Hospital, APHP, Paris, France INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Paris, FranceSearch for more papers by this authorDominique Bremond-Gignac, Dominique Bremond-Gignac Ophthalmology Department, Necker-Enfants Malades University Hospital, APHP, Paris, France INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Paris, France International Myopia Institute (IMI), Sydney, AustraliaSearch for more papers by this author Matthieu P. Robert, Corresponding Author Matthieu P. Robert [email protected] [email protected] orcid.org/0000-0003-3353-8117 Ophthalmology Department, Necker-Enfants Malades University Hospital, APHP, Paris, France Borelli Centre, UMR 9010, CNRS-SSA-ENS Paris Saclay-Paris Cité University, Paris, France Correspondence Matthieu P. Robert, Ophthalmology Department, Necker-Enfants Malades University Hospital, APHP, 149 rue de Sèvres, 75015 Paris, France. Email: [email protected] and [email protected]Search for more papers by this authorAlejandra Daruich, Alejandra Daruich orcid.org/0000-0001-7907-4325 Ophthalmology Department, Necker-Enfants Malades University Hospital, APHP, Paris, France INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Paris, FranceSearch for more papers by this authorDominique Bremond-Gignac, Dominique Bremond-Gignac Ophthalmology Department, Necker-Enfants Malades University Hospital, APHP, Paris, France INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Paris, France International Myopia Institute (IMI), Sydney, AustraliaSearch for more papers by this author First published: 05 April 2024 https://doi.org/10.1111/aos.16687Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. REFERENCES Kirag, N. & Temel, A.B. (2018) The effect of an eye health promotion program on the health protective behaviors of primary school students. Journal of Education Health Promotion, 7, 37. PubMedGoogle Scholar McCrann, S., Flitcroft, I., Lalor, K., Butler, J., Bush, A. & Loughman, J. (2018) Parental attitudes to myopia: a key agent of change for myopia control? Ophthalmic & Physiological Optics, 38(3), 298–308. 10.1111/opo.12455 PubMedWeb of Science®Google Scholar Mehravaran, S., Quan, A., Hendler, K., Yu, F. & Coleman, A.L. (2018) Implementing enhanced education to improve the UCLA Preschool Vision Program. Journal of AAPOS, 22(6), 441–444. 10.1016/j.jaapos.2018.07.346 PubMedWeb of Science®Google Scholar Sanz Diez, P., Ohlendorf, A., Barraza-Bernal, M.J., Kratzer, T. & Wahl, S. (2023) Evaluating the impact of COVID-19 pandemic-related home confinement on the refractive error of school-aged children in Germany: a cross-sectional study based on data from 414 eye care professional centres. BMJ Open, 13(11), e071833. 10.1136/bmjopen-2023-071833 PubMedWeb of Science®Google Scholar Sarkar, S., Khuu, S. & Kang, P. (2023) A systematic review and meta-analysis of the efficacy of different optical interventions on the control of myopia in children. Acta Ophthalmologica. Online ahead of print. 10.1111/aos.15746 PubMedWeb of Science®Google Scholar Early ViewOnline Version of Record before inclusion in an issue ReferencesRelatedInformation

AIMS:To report main outcomes and complications following voretigene neparvovec (Luxturna) treatment in paediatric patients. METHODS:Records of patients under the age of 17 treated by subretinal administration of voretigene neparvovec for confirmed biallelic RPE65-mediated inherited retinal dystrophy were retrospectively reviewed. Best-corrected visual acuity (BCVA) and data from spectral-domain optical coherence tomography, ultra-wide-field fundus imaging and Goldmann visual field (VF) were analysed at 12 months follow-up. RESULTS:12 eyes of six patients (mean age: 7.8 years) were analysed. No intraoperative complications occurred. BCVA significantly improved at 12-month follow-up (mean LogMAR (logarithm of the minimal angle of resolution) BCVA: 1.0±0.8 at baseline vs 0.6±0.3 at 12 months, p=0.001). Mean central macular thickness and central outer nuclear layer thickness did not change at 12 months follow-up. VF V4e isopter did not show significant changes. Postoperatively complications included: elevated intraocular pressure in two eyes of the same patient, a parafoveal lamellar hole at 3 months post-treatment and atrophy on the injection site observed in all eyes except one, which significantly enlarged during 12 months (p=0.008). CONCLUSIONS:Most paediatric patients treated by voretigene neparvovec showed a significant increase in visual function at 12 months follow-up. None of the postoperative complications prevented gains in visual function.

BACKGROUND:Neurofibromatosis type 1 is an autosomal dominant disorder predisposing to numerous tumors. Sporadic mutations account for half of the cases. They can occur on a mosaic pattern, which might remain undiagnosed, depending on the clinical phenotype. MATERIALS AND METHODS:We carried out an extended ophthalmological assessment followed by a neurological examination as well as a cardiovascular and an orthopedic examination. The patient's DNA was drawn and next generation sequencing was used on a multigenic panel (NF1, NF2, SPRED1, LZTR1, SMARCB1, SMARCE1). A written informed consent was obtained from the patient. RESULTS:We report the case of a thirty-year-old male who presented for a routine ocular checkup. An incidental finding of bilateral numerous bright patchy areas was made on near infrared reflectance imaging, alongside retinal microvascular anomalies. Further questioning and examination revealed café-au-lait macules and axillary freckling, but no Lisch nodules. The patient was referred for genetic testing and a somatic mosaic mutation was found on the NF1 gene (c.4084C>T on the exon 30) with a variant allele frequency of 20%. CONCLUSIONS:This report highlights the role of near infrared reflectance imaging in the incidental finding of choroidal alterations, which led to the diagnosis of NF1 mosaicism.