The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis.

Non-traumatic ectopia lentis can be isolated or herald an underlying multisystemic disorder. Technological advances have revolutionized genetic testing for many ophthalmic disorders, and this study aims to provide insights into the clinical utility of genetic analysis in paediatric ectopia lentis. Children that underwent lens extraction for ectopia lentis between 2013 and 2017 were identified, and gene panel testing findings and surgical outcomes were collected. Overall, 10/11 cases received a probable molecular diagnosis. Genetic variants were identified in four genes: FBN1 (associated with Marfan syndrome and cardiovascular complications; n = 6), ADAMTSL4 (associated with non-syndromic ectopia lentis; n = 2), LTBP2 (n = 1) and ASPH (n = 1). Parents appeared unaffected in 6/11 cases; the initial presentation of all six of these children was to an ophthalmologist, and only 2/6 had FBN1 variants. Notably, 4/11 cases required surgery before the age of 4 years, and only one of these children carried an FBN1 variant. In summary, in this retrospective cohort study, panel-based genetic testing pointed to a molecular diagnosis in >90% of paediatric ectopia lentis cases requiring surgery. In a subset of study participants, genetic analysis revealed changes in genes that have not been linked to extraocular manifestations and highlighted that extensive systemic investigations were not required in these individuals. We propose the introduction of genetic testing early in the diagnostic pathway in children with ectopia lentis.

Visual and anatomical outcomes of central serous chorioretinopathy patients presenting to a tertiary unit: a prospective analysis.

AIM: The aim of this study was to prospectively define the characteristics and outcomes of a cohort of central serous chorioretinopathy patients using optical coherence tomography imaging to determine anatomical disease resolution. Much of the literature available on the characteristics of central serous chorioretinopathy patients pre date the advent of OCT imaging, with conclusive epidemiological evidence being scarce. We describe a cohort of patients presenting to a large centre over the course of a year. METHODS: Prospective data collection was undertaken for all patients diagnosed with central serous chorioretinopathy at our unit over the course of 1 year. All patients underwent thorough history taking and optical coherence tomography imaging. RESULTS: In total, 59 eyes from 51 patients were diagnosed with central serous chorioretinopathy between April 2017 and April 2018; 23 (45.1%) patients had optical coherence tomography evidence of complete anatomical resolution within a year, with three (5.88%) patients suffering a worse visual acuity compared with that at presentation at 1-year end point; and three patients developed secondary choroidal neovascular membranes. CONCLUSION: Our study reports much-needed prospective outcomes of patients with central serous chorioretinopathy, which helps to guide clinicians when deciding treatment strategies, as well as better informing patients of their prognosis for visual improvement.