Molecular Inversion Probe-Based Sequencing of Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.

A substantial proportion of subjects with autosomal recessive retinitis pigmentosa (arRP) or Usher syndrome type II (USH2) lacks a genetic diagnosis due to incomplete screening in the early days of genetic testing. These cases lack eligibility for optimal genetic counseling and future therapy. defects are the most frequent cause of USH2 and are also causative in individuals with arRP.

Molecular Genetics of Conjunctival Melanoma and Prognostic Value of Promoter Mutation Analysis.

The aim of this study was exploration of the genetic background of conjunctival melanoma (CM) and correlation with recurrent and metastatic disease. Twenty-eight CM from the Rotterdam Ocular Melanoma Study group were collected and DNA was isolated from the formalin-fixed paraffin embedded tissue. Targeted next-generation sequencing was performed using a panel covering , , , , , , , , , and genes.

Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.

Optical Coherence Tomography (OCT) enables non-invasive imaging of the retina and is used to diagnose and manage ophthalmic diseases including glaucoma. We present the first large-scale genome-wide association study of inner retinal morphology using phenotypes derived from OCT images of 31,434 UK Biobank participants. We identify 46 loci associated with thickness of the retinal nerve fibre layer or ganglion cell inner plexiform layer.

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.

Efficacy and safety of current treatment options for peripheral retinal haemangioblastomas: a systematic review.

Importance: Approximately twenty per cent of Von Hippel-Lindau patients with retinal haemangioblastomas (RH) suffer from visual impairment. Various treatment options are available for peripheral RH. However, management of peripheral RH is complex due to multifocality and bilaterality.

The long-term postoperative effect of the Baerveldt glaucoma drainage device and of a trabeculectomy on the corneal endothelium.

Purpose: To determine whether the postoperative corneal endothelial cell density (ECD) differs between glaucoma patients who underwent Baerveldt implant (BGI) surgery and patients who underwent a trabeculectomy (TE) over 5 years ago.

Methods: Cross-sectional, observational study including 34 patients who underwent TE and 36 patients who underwent BGI surgery 5-11 years ago, as part of a randomized clinical trial. None of the patients had a history of intraocular surgery prior to their glaucoma surgery.

Differences in clinical presentation of primary open-angle glaucoma between African and European populations.

Purpose: Primary open-angle glaucoma (POAG) has been reported to occur more frequently in Africans, and to follow a more severe course compared to Europeans. We aimed to describe characteristics of POAG presentation and treatment across three ethnic groups from Africa and one from Europe.

Methods: We ascertained 151 POAG patients from South African Coloured (SAC) and 94 South African Black (SAB) ethnicity from a university hospital in South Africa.

Reactivation of CNV after Discontinuation of Bevacizumab Treatment of Age-Related Macular Degeneration.

Introduction: Treatment of exudative age-related macular degeneration (ARMD) has shifted to pro re nata and treat-extend-stop strategies. However, a rational discontinuation strategy is lacking. To develop such a strategy, it is important to determine choroidal neovascularization (CNV) recurrence rates after anti-VEGF treatment is discontinued.

A pilot study on the use of prednisolone-encapsulated liposomes for the treatment of moderate-to-severe Graves' orbitopathy with reduced systemic steroid exposure.

Purpose: To demonstrate that long-circulating PEGylated liposomal prednisolone is a safe and effective therapy in patients with active moderate-to-severe Graves' orbitopathy.

Methods: Open-label, proof-of-concept, multicentre pilot study. Ten patients with moderate-to-severe Graves's orbitopathy, who were euthyroid for at least three months.

Genetics of Ocular Melanoma: Insights into Genetics, Inheritance and Testing.

Ocular melanoma consists of posterior uveal melanoma, iris melanoma and conjunctival melanoma. These malignancies derive from melanocytes in the uveal tract or conjunctiva. The genetic profiles of these different entities differ from each other.

Topical corticosteroids in Acanthamoeba keratitis: Friend or foe?

Background/aims: To analyse the effect of topical corticosteroids before start of anti-amoebic therapy (AAT) in Acanthamoeba keratitis (AK) on final visual outcome and to identify factors that affect the outcome.

Methods: A retrospective case control study of the medical records of patients diagnosed with AK at the Rotterdam Eye Hospital between 2003 and 2017 was performed. Patient demographic and clinical data were collected.

Smaller Foveal Avascular Zone in Deep Capillary Plexus Is Associated with Better Visual Acuity in Patients after Macula-off Retinal Detachment Surgery.

Purpose: To associate the change in the foveal avascular zone (FAZ) and vessel density (VD) with final best corrected visual acuity (BCVA) in eyes after macula-off rhegmatogenous retinal detachment surgery, and to investigate the evolution of FAZ and VD during 12 months of follow-up.

Methods: We prospectively evaluated 47 patients with macula-off rhegmatogenous retinal detachment and healthy fellow eyes. At 1.

Histopathological and Molecular Features of a Conjunctival Caruncular Deep Penetrating Nevus.

We describe the first presentation of a deep penetrating nevus (DPN) on the lacrimal caruncle. This lesion was seen in an 18-year-old woman presenting with hemorrhage of a long-standing pigmented mass on the caruncle. Histology showed a combined melanocytic neoplasm that consisted of two different melanocytic components.

Results of surgical correction of upper eyelid retraction in Graves' Orbitopathy.

Introduction: Anterior levator disinsertion/reinsertion and Müllerectomy (ALDM) is generally performed to correct upper eyelid retraction in patients with Graves' orbitopathy (GO). We studied the outcome of this procedure and its correlation with clinical parameters.

Patients And Methods: Retrospective analysis of results of ALDM in 305 consecutive euthyroid patients with burnt-out GO treated in our hospital between 1 January 2000 and 1 January 2016.

Are Patients at Risk for Recurrent Disease Activity After Switching From Remicade to Remsima? An Observational Study.

Since the late '90s, infliximab (Remicade) is being used successfully to treat patients with several non-infectious immune mediated inflammatory diseases (IMIDs). In recent years, infliximab biosimilars, including Remsima were introduced in clinical practice. To investigate the interchangeability of Remicade (originator infliximab) and its biosimilar Remsima in patients with rare immune-mediated inflammatory diseases (IMIDs).

Visual Acuity Inadequately Reflects Vision-Related Quality of Life in Patients After Macula-Off Retinal Detachment Surgery.

Purpose: To determine the impact of postoperative visual function on the vision-related quality of life (VRQoL) in patients after anatomically successful surgery for macula-off rhegmatogenous retinal detachment (RRD) and to propose a classification to grade the extent of macular detachment using preoperative optical coherence tomography (OCT) scans.

Methods: This prospective study evaluated 48 patients. At 12 months after surgery, visual function assessments were as follows: metamorphopsia (M-CHARTS), aniseikonia (New Aniseikonia Test), best corrected visual acuity (BCVA) (Early Treatment Diabetic Retinopathy Study [ETDRS]), low contrast BCVA (10% ETDRS), color vision (Hardy Rand Rittler), and stereopsis (Titmus Fly).

Development of a Genotype Assay for Age-Related Macular Degeneration: The EYE-RISK Consortium.

Purpose: To develop a genotype assay to assess associations with common and rare age-related macular degeneration (AMD) risk variants, to calculate an overall genetic risk score (GRS), and to identify potential misdiagnoses with inherited macular dystrophies that mimic AMD.

Design: Case-control study.

Participants: Individuals (n = 4740) from 5 European cohorts.