FOXC1 and PITX2 genetic defects explain 40% of our large ASD cohort. The current spectrum of intragenic FOXC1 and PITX2 mutations was extended considerably, the identified copy number changes were fine mapped, the smallest FOXC1 and PITX2 deletions reported so far were identified, and the need for dedicated copy number screening of the FOXC1 and PITX2 genomic landscape was emphasized. This study is unique in that sequence and copy number changes were screened simultaneously in both genes.

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.

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.

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.

Aim: To evaluate the Baerveldt glaucoma implant (BGI) in paediatric glaucoma treatment. Methods: In a retrospective non-comparative case series 55 eyes of 40 consecutive paediatric patients ((16 years) with primary or secondary glaucoma underwent Baerveldt (350 mm 2 ) implantation. Surgical outcome was evaluated by Kaplan-Meier table analysis. Results: The overall success rate was 80% at last follow up, with a mean follow up of 32 (range 2-78) months. Cumulative success was 94% at 12 months and 24 months, 85% at 36 months, 78% at 48 months, and 44% at 60 months. 11 eyes (20%) failed postoperatively because of an IOP .21 mm Hg (eight eyes), persistent hypotony (two eyes), and choroidal haemorrhage following cataract surgery (one eye). The most frequent complication needing surgery was tube related (20%). A new observation was mild to moderate dyscoria in 22% of the eyes, all buphthalmic, caused by entrapment of a tuft of peripheral iris in the tube track. Conclusions: The BGI is effective and safe in the management of primary and secondary glaucoma. When angle surgery has proved to be unsuccessful or inappropriate in paediatric patients, a BGI is a good treatment option. One must be prepared to deal with the tube related problems.