Myopia management algorithm. Annexe to the article titled Update and guidance on management of myopia. European Society of Ophthalmology in cooperation with International Myopia Institute.

Myopia is becoming increasingly common in young generations all over the world, and it is predicted to become the most common cause of blindness and visual impairment in later life in the near future. Because myopia can cause serious complications and vision loss, it is critical to create and prescribe effective myopia treatment solutions that can help prevent or delay the onset and progression of myopia. The scientific understanding of myopia's causes, genetic background, environmental conditions, and various management techniques, including therapies to prevent or postpone its development and slow its progression, is rapidly expanding. However, some significant information gaps exist on this subject, making it difficult to develop an effective intervention plan. As with the creation of this present algorithm, a compromise is to work on best practices and reach consensus among a wide number of specialists. The quick rise in information regarding myopia management may be difficult for the busy eye care provider, but it necessitates a continuing need to evaluate new research and implement it into daily practice. To assist eye care providers in developing these strategies, an algorithm has been proposed that covers all aspects of myopia mitigation and management. The algorithm aims to provide practical assistance in choosing and developing an effective myopia management strategy tailored to the individual child. It incorporates the latest research findings and covers a wide range of modalities, from primary, secondary, and tertiary myopia prevention to interventions that reduce the progression of myopia.

Optic Nerve Aplasia.

OBJECTIVE: Optic nerve aplasia (ONA) is a rare ocular anomaly. We report ophthalmologic, systemic, and genetic findings in ONA. METHODS: Patients were identified through an International Pediatric Ophthalmology listserv and from the practice of the senior author. Participating Listserv physicians completed a data collection sheet. Children of all ages were included. Neuroimaging findings were also recorded. RESULTS: Nine cases of ONA are reported. Patients' ages ranged from 10 days to 2 years (median 9 months). Seven cases were bilateral. All patients had absence of the optic nerve and retinal vessels in the affected eye or eyes. Ophthalmologic findings included glaucoma, microcornea, persistent pupillary membrane, iris coloboma, aniridia, retinal dysplasia, retinal atrophy, chorioretinal coloboma, and persistent fetal vasculature. Systemic findings included facial dysmorphism, cardiac, genitourinary, skeletal, and developmental defects. A BCOR mutation was found in one patient. One patient had rudimentary optic nerves and chiasm on imaging. CONCLUSION: ONA is a unilateral or bilateral condition that may be associated with anomalies of the anterior or posterior segment with or without systemic findings. Rudimentary optic nerve on neuroimaging in one case suggests that ONA is on the continuum of optic nerve hypoplasia.

Update and guidance on management of myopia. European Society of Ophthalmology in cooperation with International Myopia Institute.

The prevalence of myopia is increasing extensively worldwide. The number of people with myopia in 2020 is predicted to be 2.6 billion globally, which is expected to rise up to 4.9 billion by 2050, unless preventive actions and interventions are taken. The number of individuals with high myopia is also increasing substantially and pathological myopia is predicted to become the most common cause of irreversible vision impairment and blindness worldwide and also in Europe. These prevalence estimates indicate the importance of reducing the burden of myopia by means of myopia control interventions to prevent myopia onset and to slow down myopia progression. Due to the urgency of the situation, the European Society of Ophthalmology decided to publish this update of the current information and guidance on management of myopia. The pathogenesis and genetics of myopia are also summarized and epidemiology, risk factors, preventive and treatment options are discussed in details.

Ocular complications of oak processionary caterpillar setae in the Netherlands; case series, literature overview, national survey and treatment advice.

During early summer 2019, the Netherlands experienced an outbreak of the exotic oak processionary caterpillar. The vast number of caterpillars, which live in large nests on oak trees before they turn into moths, possess thousands of small, barbed hairs (setae) that are disseminated with the wind. The hairs cause a range of primarily dermatologic problems. However, Dutch ophthalmologists started reporting patients with ophthalmologic complaints caused by the penetrating hairs of the oak processionary caterpillar. This paper focuses on the ophthalmologic complications caused by the caterpillar hairs. We collected a series of four cases with reports ranging from a corneal erosion with hairs lodged into the cornea, to a sterile endophthalmitis in which hairs were found in the vitreous. A literature review for similar cases was performed using the PubMed and Embase database. Together with the Dutch Ophthalmic Society (Nederlands Oogheelkundig Gezelschap, NOG), a national survey was issued to determine the scale of this new problem. This showed that oak processionary caterpillar related complaints are primarily limited to the south of the Netherlands. Suggested ophthalmic treatment guidelines are presented. With the next summer at the doorstep, and limited preventative measures against the caterpillar hairs, we expect a new wave of ophthalmologic complaints coming year as well.

LONGITUDINAL STUDY OF RPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONS.

PURPOSE: To study the disease course of RPE65-associated inherited retinal degenerations (IRDs) as a function of the genotype, define a critical age for blindness, and identify potential modifiers. METHODS: Forty-five patients with IRD from 33 families with biallelic RPE65 mutations, 28 stemming from a genetic isolate. We collected retrospective data from medical charts. Coexisting variants in 108 IRD-associated genes were identified with Molecular Inversion Probe analysis. RESULTS: Most patients were diagnosed within the first years of life. Daytime visual function ranged from near-normal to blindness in the first four decades and met WHO criteria for blindness for visual acuity and visual field in the fifth decade. p.(Thr368His) was the most common variant (54%). Intrafamilial variability and interfamilial variability in disease severity and progression were observed. Molecular Inversion Probe analysis confirmed all RPE65 variants and identified one additional variant in LRAT and one in EYS in two separate patients. CONCLUSION: All patients with RPE65-associated IRDs developed symptoms within the first year of life. Visual function in childhood and adolescence varied but deteriorated inevitably toward blindness after age 40. In this study, genotype was not predictive of clinical course. The variance in severity of disease could not be explained by double hits in other IRD genes.

Effectiveness of screening for amblyopia and other eye disorders in a prospective birth cohort study.

OBJECTIVE: To establish whether the current vision screening practice in the Netherlands is effective in preventing permanent visual loss and to estimate the sensitivity of the programme. SETTINGS: In the Netherlands, all children are invited for preverbal (1, 3, 6-9 and 14-24 months) and preschool (36, 45, and 60-72 months) vision screening. Screening attendance is high, but the effectiveness in reducing amblyopia is unknown. METHODS: In a 7-year cohort study, 4624 children born in the city of Rotterdam between 16 September 1996 and 15 May 1997 were followed through all routine vision screening examinations. At age seven, visual acuity (VA) of children still living in Rotterdam was assessed by study orthoptists. In case of VA > 0.1 logMAR in one or both eyes, two or more logMAR lines of interocular difference or eye disorders like strabismus, children underwent a more intensive eye examination. RESULTS: Attendance at the 9-month screening was 89%, decreasing to about 75% at later examinations. Of preverbal tests, 2.5% were positive, and of preschool tests, 10%. In total, 19% of children had a positive vision screening test at least once. Amblyopia prevalence was 3.4%. Sensitivity of the vision screening programme was 73% and specificity 83%. At age seven, 0.7-1.2% (confirmed vs final exam) of the children had a VA > 0.3 logMAR in the worse eye compared with 2-3.9% (in literature) reported prevalence in non-screening situations. Children who were less frequently screened had a higher chance of poor vision (>0.3 logMAR) at age seven. CONCLUSION: The Dutch child vision screening programme may reduce the risk of persistent amblyopia (VA > 0.3 logMAR) at age seven by more than half.

Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290.

PURPOSE: This study investigated the centrosomal protein, 290-KD (CEP290) associated genotype and ocular and extra-ocular phenotype in 18 patients with Leber congenital amaurosis (LCA). METHODS: Eighteen patients with LCA from 14 families with mutations in the CEP290 gene were identified with sequencing or with heteroduplex analysis. Ophthalmic examinations were performed on all patients. Scans of the central nervous system were reassessed in three patients and obtained in two. Renal function was evaluated in all patients. Ultrasonography of the kidneys was performed in six patients. RESULTS: Eight patients (from five families) carried the c.2991+1655A>G mutation homozygously. Nine solitary patients carried this variant combined with a nonsense, frameshift, or splice site mutation on the second allele. One new nonsense mutation was identified: c.1078C>T. Fourteen patients (from 12 families) had been completely blind from birth or had light perception. The best-recorded visual acuity was 20/200. Peripheral fundus changes appeared to be progressive with a relatively preserved posterior pole. Novel ophthalmic features for the CEP290 phenotype were Coats-like exudative vasculopathy in two patients, a small chorioretinal coloboma in one patient, and well defined, small, atrophic spots at the level of the retinal pigment epithelium causing a dot-like appearance in five patients. Some CEP290 patients exhibited systemic abnormalities. We found abnormal proprioception in two patients and mild mental retardation in one. One patient was infertile due to immobile spermatozoa. No renal abnormalities were detected. CONCLUSIONS: CEP290-associated LCA has a severe, progressive, and clinically identifiable phenotype. Distinct extra-ocular findings were noted, which may be attributed to ciliary dysfunction.

High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population.

PURPOSE: To determine the genetic defects underlying autosomal recessive retinitis pigmentosa (arRP) in the Dutch population and in a subset of patients originating from other countries. The hypothesis was that, because there has been little migration over the past centuries in certain areas of The Netherlands, a significant fraction of Dutch arRP patients carry their genetic defect in the homozygous state. METHODS: High-resolution genome-wide SNP genotyping on SNP arrays and subsequent homozygosity mapping were performed in a large cohort of 186 mainly nonconsanguineous arRP families living in The Netherlands. Candidate genes residing in homozygous regions were sequenced. RESULTS: In ~94% of the affected individuals, large homozygous sequences were identified in their genome. In 42 probands, at least one of these homozygous regions contained one of the 26 known arRP genes. Sequence analysis of the corresponding genes in each of these patients revealed 21 mutations and two possible pathogenic changes, 14 of which were novel. All mutations were identified in only a single family, illustrating the genetic diversity within the Dutch population. CONCLUSIONS: This report demonstrates that homozygosity mapping is a powerful tool for identifying the genetic defect underlying genetically heterogeneous recessive disorders like RP, even in populations with little consanguinity.

Rotterdam AMblyopia screening effectiveness study: detection and causes of amblyopia in a large birth cohort.

PURPOSE. The Dutch population-based child health monitoring program includes regular preverbal (age range, 1-24 months) and preschool (age range, 36-72 months) vision screening. This study is on the contribution of an organized vision screening program to the detection of amblyopia. METHODS. A 7-year birth cohort study of 4624 children was started in 1996/1997 in Rotterdam. Vision screening data were obtained from the child screening centers. Treating orthoptists working at the regional ophthalmology departments provided information about diagnosis and treatment. The diagnosis was reviewed by two experts. The parents provided additional information on their child's eye history through written questionnaires and telephone interviews. At age 7 years, the children underwent a final examination by the study orthoptists. RESULTS. Of the 3897 children still living in Rotterdam by 2004, 2964 (76.1%) underwent the final examination. Amblyopia was diagnosed in 100 (3.4%) of these (95% CI, 2.7-4.0). At age 7, 23% had visual acuity >0.3 logMAR. Amblyopia was caused by refractive error (n = 42), strabismus (n = 19), combined-mechanism (n = 30), deprivation (n = 7), or unknown (n = 2). Eighty-three amblyopia cases had been detected before age 7. Amblyopia detection followed positive results in vision screening in 56 children, either preverbal (n = 15) or preschool (n = 41). Twenty-six other amblyopes were self-referred (n = 12, before a first positive screening test), especially strabismic or combined-mechanism amblyopia; data were uncertain for one other positively screened amblyopic child. Amblyopia remained undetected until age 7 due to unsuccessful referral (n = 4, three with visual acuity >0.3 logMAR at age 7) or false-negative screening (n = 13). CONCLUSIONS. Most cases of amblyopia were detected by vision screening with visual acuity measurement. Preverbal screening contributed little to the detection of refractive amblyopia.

[Fireworks injuries treated by Dutch ophthalmologists New Year 2008/'09]. / Vuurwerkletsels behandeld door oogartsen: jaarwisseling 2008/'09.

OBJECTIVE: To list and describe eye injuries caused by consumer fireworks around New Year 2008/'09. DESIGN: Descriptive study. METHODS: All members of the Netherlands Society of Ophthalmology (NOG) were called upon by the board to register all the firework-related eye injuries they treated between 27 December 2008 and 4 January 2009. As well as several details about the patient, type of firework, nature of the accident, type and severity of injury, and treatment were registered. RESULTS: In total, 95% of ophthalmologists on duty at the turn of the year sent in registration forms. They treated and registered a total of 268 patients with 315 eye injuries caused by fireworks. 56 % of patients were bystanders. Most victims were male. 59% (n = 158) of patients were minors (3-17 years); the majority were 10-15-year-old boys. One third of the eyes (n = 99) sustained permanent damage. In 47 eyes the extent of the damage was such that it led to irreversible loss of vision, and in 24 eyes to complete loss of vision. 15 of these 24 eyes were surgically removed. 'Bangers' caused most injuries, but rockets caused the most serious injuries. CONCLUSION: On medical grounds the NOG believes that the current policy of tolerance regarding fireworks makes the risk of eye injuries to which the Dutch population is exposed, too high. As long as consumer fireworks are allowed, the NOG advises that protective polycarbonate glasses be worn while lighting and watching of fire-works.

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.

PURPOSE: To test the efficiency of a microarray chip as a diagnostic tool in a cohort of northwestern European patients with Leber congenital amaurosis (LCA) and to perform a genotype-phenotype analysis in patients in whom pathologic mutations were identified. METHODS: DNAs from 58 patients with LCA were analyzed using a microarray chip containing previously identified disease-associated sequence variants in six LCA genes. Mutations identified by chip analysis were confirmed by sequence analysis. On identification of one mutation, all protein coding exons of the relevant genes were sequenced. In addition, sequence analysis of the RDH12 gene was performed in 22 patients. Patients with mutations were phenotyped. RESULTS: Pathogenic mutations were identified in 19 of the 58 patients with LCA (32.8%). Four novel sequence variants were identified. Mutations were most frequently found in CRB1 (15.5%), followed by GUCY2D (10.3%). The p.R768W mutation was found in 8 of 10 GUCY2D alleles, suggesting that it is a founder mutation in the northwest of Europe. In early childhood, patients with AIPL1 or GUCY2D mutations show normal fundi. Those with AIPL1-associated LCA progress to an RP-like fundus before the age of 8, whereas patients with GUCY2D-associated LCA still have relatively normal fundi in their mid-20s. Patients with CRB1 mutations present with distinct fundus abnormalities at birth and consistently show characteristics of RP12. Pathogenic GUCY2D mutations result in the most severe form of LCA. CONCLUSIONS: Microarray-based mutation detection allowed the identification of 32% of LCA sequence variants and represents an efficient first-pass screening tool. Mutations in CRB1, and to a lesser extent, in GUCY2D, underlie most LCA cases in this cohort. The present study establishes a genotype-phenotype correlation for AIPL1, CRB1, and GUCY2D.

Cyclotorsion: a possible cause of residual astigmatism in refractive surgery.

PURPOSE: To determine whether cyclotorsion occurs when a subject changes from binocular to monocular fixation and to assess positionally induced cyclotorsion. SETTING: Clinics of the Rotterdam Eye Hospital, Rotterdam, The Netherlands. METHODS: The axis of astigmatism was measured with the Nidek handheld keratometer in 15 normal subjects under monocular and binocular fixation and in seated and supine positions. The limits of agreement for the repeatability of measurements with the Nidek keratometer were used to identify subjects with statistically significant cyclotorsion. RESULTS: Two subjects (13%) showed statistically significant excyclotorsion when changing from binocular to monocular fixation in a seated position. In a supine position, 3 subjects (20%) showed excyclotorsion when the fixation changed. Body position itself had no influence on ocular torsion. CONCLUSIONS: Significant cyclotorsion may occur under monocular viewing conditions. If monocular photorefractive keratectomy procedures are based on binocular keratometry readings, an undercorrection of myopic astigmatism may result. Individuals at risk should be identified before refractive keratectomy is performed.