Validation of the eye screening tool GoCheck Kids for the detection of amblyopia risk factors in toddlers in Flanders.

Purpose: To assess the validity of the GoCheck Kids photoscreening application (Gobiquity Mobile Health, Scottdale, AZ) on iPhone, which was used (2018-2022) as standard of care by Child and Family (Kind en Gezin) to detect amblyopia risk factors in children 12-30 months of age.

Methods: Between August 2021 and May 2022, 453 children 11-16 months of age underwent a confirmatory ophthalmic examination within 2 months of GoCheck Kids photoscreening at Child and Family, Flanders, Belgium. Additionally, manual review was performed by specialists of GoCheck Kids.

Ophthalmological and Neurological Findings in Patients with Idiopathic Uveitis Associated with Retinal Vasculitis and the Relation with the HLA DR15 Allele.

Purpose: In 15 patients with idiopathic uveitis associated with retinal vasculitis, HLA DRB1 gene testing was performed to detect a possible association. 11 patients tested positive and 4 negative for the HLA DRB1 × 15 allele. The presence of the HLA DRB1 × 15 haplotype might be associated with a higher susceptibility to develop Multiple Sclerosis (MS).

Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome.

Mutations in the N-terminal WD40 domain of coatomer protein complex subunit α (COPA) cause a type I interferonopathy, typically characterized by alveolar hemorrhage, arthritis, and nephritis. We described 3 heterozygous mutations in the C-terminal domain (CTD) of COPA (p.C1013S, p.

The use of optical coherence tomography angiography to measure changes in iris vasculature after strabismus surgery.

Introduction: Anterior segment ischemia (ASI) is a rare but potentially sight-threatening complication of strabismus surgery. Preoperative imaging of the iris vasculature may be appropriate in patients at high risk of ASI. In clinical practice, this is currently done through invasive fluoresceine or indocyanine green (ICG) angiography and in study context through laser speckle contrast imaging.

Optical coherence tomography as a prognostic tool for disability progression in MS: a systematic review.

Since multiple sclerosis (MS) is characterized by an unpredictable disease course, accurate prognosis and personalized treatment constitute an important challenge in clinical practice. We performed a qualitative systematic review to assess the predictive value of retinal layer measurement by spectral-domain optical coherence tomography (SD-OCT) in MS patients. Longitudinal MS cohort studies that determined the risk of clinical deterioration based on peripapillary retinal nerve fiber layer (pRNFL) and/or macular ganglion cell-inner plexiform layer (mGCIPL) atrophy were included.

Association between near viewing and acute acquired esotropia in children during tablet and smartphone use.

We investigated a possible association between the acute onset of esotropia and tablet or smartphone use in children. We characterized the clinical aspects of esotropia associated with tablet or smartphone use. The medical records of 10 children aged between 5 and 15 years old with presumably tablet or smartphone associated esotropia were reviewed regarding orthoptic examination and cycloplegic refraction.

Extraocular muscle hypoplasia associated with Axenfeld-Rieger syndrome.

We describe a four-year-old girl with bilateral severe iris hypoplasia and secondary ocular hypertension. Genetic testing revealed a de novo deletion in the FOXC1 gene, establishing the diagnosis of Axenfeld-Rieger syndrome (ARS). The girl developed a gradually increasing exotropia, up to 95 prism diopters by the age of 3 years wherefore strabismus surgery was performed.

Insights into multiple sclerosis-associated uveitis: a scoping review.

Purpose: This paper is a scoping review of research on multiple sclerosis (MS)-associated uveitis to determine its epidemiology, pathophysiology, clinical features and treatment.

Methods: A comprehensive search of the medical databases MEDLINE (PubMed), EMBASE, Web of Science and Cochrane was carried out on 25 November 2019, to identify papers published between 1980 and 2019 that focus on patients with MS-associated uveitis.

Results: Based on large cohort studies (n ≥ 1000), the prevalence of uveitis in patients with MS is estimated to be 0.

Globe Subluxation following Long-Term High-Dose Steroid Treatment for Myasthenia Gravis.

This case report describes the unusual presentation of a globe subluxation following long-term high-dose oral steroid treatment for myasthenia gravis (MG). The patient presented initially with fluctuating vertical diplopia. Auto-antibodies against the acetylcholine receptor were weakly positive, confirming the diagnosis of MG.

Acute bilateral serous retinal detachments with spontaneous resolution in a 6-year-old boy.

A healthy 6-year-old boy presented with acute bilateral vision loss, multiple serous retinal detachments between the vascular arcades and a thickened choroid. Spontaneous resolution occurred over several weeks. We hypothesize that the clinical constellation in our patient is suggestive of acute exudative polymorphous vitelliform maculopathy (AEPVM) or might be an atypical presentation of Vogt-Koyanagi-Harada (VKH) disease.

Congenital bilateral folds in Descemet's membrane with high astigmatism.

We present the case of a boy with congenital bilateral folds in Descemet's membrane, causing high astigmatism and myopia. There are multiple causes of folds and tears in Descemet's membrane. In our case, the most likely origin is the mother's prolonged labor, although a severe car accident of the mother at the gestational age of 27 weeks as the cause of these folds cannot be entirely excluded.

Ophthalmic Outcome in a Belgian Cohort of Cystinosis Patients Treated with a Compounded Preparation of Cysteamine Eye Drops: Retrospective Analysis.

Introduction: Treatment of the anterior segment problems in cystinosis is challenging as oral cysteamine is ineffective in the treatment of corneal problems because of its avascular structure. Although cysteamine eye drops have been formulated to counter this issue, the stability of cysteamine in these off-licensed formulations and treatment compliance are major problems. The aim of this retrospective study was to determine the efficacy of a compounded preparation of aqueous 0.

Ocular Neuromyotonia: Case Reports and Literature Review.

Ocular neuromyotonia (ONM) is a rare eye movement disorder, presenting as a paroxysmal involuntary spasm of one or more extra-ocular muscles, that can persist for a few seconds up to several minutes. The phenomenon is caused by the contraction of an extra-ocular muscle, excited by a damaged nerve, which leads to delayed muscle relaxation. We present eight patients with this rare condition together with an overview of the literature on all published ONM cases.

Optical Coherence Tomography Angiography of Retinal Microvascular Changes Overlying Choroidal Nodules in Neurofibromatosis Type 1.

Purpose: To report 3 cases of neurofibromatosis type 1 (NF1) with choroidal nodules associated with retinal microvascular changes imaged with optical coherence tomography angiography (OCTA).

Methods: Small case series in 3 NF1 patients. OCTA examinations were performed by a trained examiner (J.

Early diagnosis and successful treatment of paraneoplastic melanocytic proliferation.

Background: Paraneoplastic melanocytic proliferation (bilateral diffuse uveal melanocytic proliferation, BDUMP) is a rare but devastating disease that causes progressive visual loss in patients who usually have an occult malignancy. Visual loss occurs as a result of paraneoplastic changes in the uveal tissue.

Methods: In a masked fashion, the serum of two patients with BDUMP was evaluated for the presence of cultured melanocyte elongation and proliferation (CMEP) factor using cultured human melanocytes.

Choroidal thickness of the papillomacular region in young healthy individuals.

Purpose: To characterize the choroidal thickness of the papillomacular region in young healthy individuals using spectral-domain optical coherence tomography (SD-OCT).

Methods: Papillary and macular SD-OCT scans were obtained using an enhanced depth imaging mode. Digital retinography was used to assess any overlapping areas and to determine the papillomacular region.

Ophthalmological assessment of children with neurofibromatosis type 1.

Unlabelled: Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder, caused by mutations in the NF1 gene, located on chromosome band 17q11.2. In 1988, the National Institutes of Health created specific criteria for the diagnosis of NF1.

Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations.

Enhanced S-cone syndrome is a rare, slowly progressive autosomal recessively inherited retinal degeneration related to mutations in the NR2E3 gene. Patients often present with night blindness, visual loss and visual field abnormalities. Patients with enhanced S-cone syndrome exhibit a variable clinical phenotype associated with various degrees of pigmentary changes and foveal schisis.