Retinal arteriolar macroaneurysms with supravalvular pulmonic stenosis in the United Arab Emirates.

Purpose: Retinal arteriolar macroaneurysms with supravalvular pulmonic stenosis (RAMSVPS) is a rare syndrome that to date has only been reported in Saudi Arabian families. All tested patients have been homozygous for a single splice variant (NM_001553.2:c.

Adjunctive Intravitreal Triamcinolone Acetonide for Exudative Retinal Detachment in Coats Disease.

Purpose: This work aims to assess the value of intravitreal triamcinolone acetonide (IVTA) as an adjunctive therapy in advanced Coats disease with exudative retinal detachment (ERD).

Methods: A retrospective review was conducted of patients with Coats disease stage 3 or higher who received IVTA to decrease subretinal fluid (SRF), facilitate retinal ablative therapy, and avoid surgical drainage. Primary outcomes were SRF resolution and avoidance of surgical SRF drainage.

Wide-field optical coherence tomography angiography for the detection of proliferative diabetic retinopathy.

Purpose: To compare the ability of wide-field optical coherence tomography angiography (WF-OCTA) to that of ultra-wide field fluorescein angiography (UWF-FA) and ultra-wide-field color fundus photography (UWF-CP) to detect retinal neovascularization (NV) in eyes with proliferative diabetic retinopathy (PDR).

Methods: In this cross-sectional study, naïve patients with active PDR underwent UWF-FA and UWF-CP using the Optos 200Tx and WF-OCTA with 12 × 12 mm fields of five visual fixations using the PLEX Elite 9000. NV was defined on OCTA when the co-registered B-scan with flow overlay of the vitreoretinal interface (VRI) segmentation showed extraretinal proliferation.

Inner retinal toxicity due to silicone oil: a case series and review of the literature.

Purpose: Cases of sudden loss of central vision in eyes with silicone oil in situ and after oil removal have been described. The aim of this review is to present current data on silicone oil toxicity to the neuronal aspects of the retina as well as the Cleveland Clinic Abu Dhabi experience with this retinopathy (maculopathy).

Methods: A PubMed review using the terms "silicon oil" and/or "toxicity" and/or "ganglion cell" and/or "nerve fiber" was conducted to identify case reports, case series, and original articles presenting toxicity from silicon oil.

Cilioretinal artery hypoperfusion and its association with paracentral acute middle maculopathy.

Background/aims: To study the multimodal imaging findings of a large series of eyes with cilioretinal artery obstruction (CILRAO) and describe the systemic associations.

Methods: Multicentre, retrospective chart review from 12 different retina clinics worldwide of eyes with CILRAO, defined as acute retinal whitening in the distribution of the cilioretinal artery, were identified. The clinical, systemic information and multimodal retinal imaging findings were collected and analysed.

Spare some internal limiting membrane for later: free ILM patch and neurosensory retina graft.

Purpose: Editorial to De Giacinto et al case report on free autologous neurosensory retina patch.

Methods: Literature review and experts' opinion RESULTS: In the present issue, De Giacinto et al describe a free autologous neurosensory retina patch to close a chronic macular hole. This new technique was made necessary by an extended internal limiting membrane peeling during the first surgery, that prevented grafting a patch of internal limiting membrane when the hole did not close.

Congenital Retinal Macrovessel and the Association of Retinal Venous Malformations With Venous Malformations of the Brain.

Importance: Congenital retinal macrovessel (CRM) is a rarely reported venous malformation of the retina that is associated with venous anomalies of the brain.

Objective: To study the multimodal imaging findings of a series of eyes with congenital retinal macrovessel and describe the systemic associations.

Design, Setting, And Participants: In this cross-sectional multicenter study, medical records were retrospectively reviewed from 7 different retina clinics worldwide over a 10-year period (2007-2017).

Fundus autofluorescence imaging in hereditary retinal diseases.

Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to non-invasively map changes at the level of the retinal pigment epithelium (RPE)/photoreceptor complex and alterations of macular pigment distribution. This imaging method is based on the visualization of intrinsic fluorophores and may be easily and rapidly used in routine patient care. Excessive accumulation of lipofuscin granules in the lysosomal compartment of RPE cells represents a common downstream pathogenic pathway in various hereditary and complex retinal diseases.

OUTCOMES OF PARS PLANA VITRECTOMY IN THE MANAGEMENT OF REFRACTORY AQUEOUS MISDIRECTION SYNDROME.

Purpose: To determine the efficacy and complications of pars plana vitrectomy (PPV) and adjunct surgeries for aqueous misdirection refractory to medical therapy.

Methods: A retrospective review of consecutive eyes with refractory aqueous misdirection at the King Khaled Eye Specialist Hospital between 2002 and 2010. Patients underwent two-port and three-port pars plana vitrectomy (PPV) with adjunct procedures including pars plana lensectomy combined with posterior capsulectomy, hyaloido-zonulo-iridectomy, and synechiolysis.

The outcomes and prognostic factors of vitrectomy in chronic diabetic traction macular detachment.

Purpose: To investigate the outcomes of pars plana vitrectomy (PPV) for chronic diabetic traction macular detachment (CTMD).

Methods: Ninety-six eyes that underwent PPV for CTMD of at least 6 months duration were retrospectively analyzed. Retinal reattachment rate, final vision, and prognostic factors for poor visual outcome were the main outcome measures.

Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial.

MERTK is an essential component of the signaling network that controls phagocytosis in retinal pigment epithelium (RPE), the loss of which results in photoreceptor degeneration. Previous proof-of-concept studies have demonstrated the efficacy of gene therapy using human MERTK (hMERTK) packaged into adeno-associated virus (AAV2) in treating RCS rats and mice with MERTK deficiency. The purpose of this study was to assess the safety of gene transfer via subretinal administration of rAAV2-VMD2-hMERTK in subjects with MERTK-associated retinitis pigmentosa (RP).

Exome-based case-control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy.

Unlabelled: Diabetic retinopathy (DR) is a common clinical expression of diabetes mellitus-induced vasculopathy and is a major cause of vision loss. Significant gaps remain in our understanding of the molecular pathoetiology of DR, and it is hoped that human genetic approaches can reveal novel targets especially since DR is a heritable trait. Previous studies have focused on genetic risk factors of DR but their results have been mixed.

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.

Purpose: Retinal dystrophies (RD) are heterogeneous hereditary disorders of the retina that are usually progressive in nature. The aim of this study was to clinically and molecularly characterize a large cohort of RD patients.

Methods: We have developed a next-generation sequencing assay that allows known RD genes to be sequenced simultaneously.

Full-Thickness Macular Hole Secondary to High-Power Handheld Blue Laser: Natural History and Management Outcomes.

Purpose: To report the natural history and management outcomes of full-thickness macular hole (MH) caused by momentary exposure to a high-power handheld blue laser device and highlight the dangers of such easily available devices.

Design: Retrospective consecutive case series.

Methods: A chart review of all patients presenting with full-thickness MH from exposure to blue-light high-powered lasers from January 2012 to May 2014 at 2 institutions was performed.

Role of Intravitreal Antivascular Endothelial Growth Factor Injections for Choroidal Neovascularization due to Choroidal Osteoma.

We treated 26 eyes of 25 young patients having a mean age of 30 years with intravitreal vascular endothelial growth factor (VEGF) inhibitor for choroidal new vessel (CNV) formation overlying choroidal osteoma over a mean follow-up of 26 months. Mean number of injections was 2.4 at 6 months, 3.

Nine years of retained perfluoro-n-octane in the anterior chamber after retinal detachment repair with no signs of ocular toxicity.

Perfluoro-n-octane (PFO) is commonly used in vitreoretinal surgery. In this case report, we present a 35-year-old patient with retained PFO up to 9 years after par plana vitrectomy. Post-operatively, PFO bubbles occupied 15% of the anterior chamber (AC).

Ocular malignant tumors. Review of the Tumor Registry at a tertiary eye hospital in central Saudi Arabia.

Objective: To present the epidemiologic profile and magnitude of ocular malignant tumors (MT) representative of the Saudi population from the Tumor Registry (TR) at King Khaled Eye Specialist Hospital (KKESH).

Methods: This study evaluated the demographic information, clinical features including tumor laterality, ocular tissue of origin, and diagnosis of patients from the TR registry between 1983 and 2012 at KKESH, Riyadh, Kingdom of Saudi Arabia. The incidence of MT among Saudi adults (>/= 15 years old), and children (<15 years old) was estimated.

High-power handheld blue laser-induced maculopathy: the results of the King Khaled Eye Specialist Hospital Collaborative Retina Study Group.

Purpose: To report various types of maculopathy caused by momentary exposure to a high-power handheld blue laser.

Design: Consecutive case series.

Participants: Fourteen eyes of 14 patients.

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.

Retinal dystrophy (RD) is a heterogeneous group of hereditary diseases caused by loss of photoreceptor function and contributes significantly to the etiology of blindness globally but especially in the industrialized world. The extreme locus and allelic heterogeneity of these disorders poses a major diagnostic challenge and often impedes the ability to provide a molecular diagnosis that can inform counseling and gene-specific treatment strategies. In a large cohort of nearly 150 RD families, we used genomic approaches in the form of autozygome-guided mutation analysis and exome sequencing to identify the likely causative genetic lesion in the majority of cases.

Anesthesia for pars plana vitrectomy with insulin needle, is it possible?

Peribulbar block is commonly used for ocular posterior segment surgery. This work aimed to compare the efficacy of using 12.5 mm to 25 mm standard needle length in performing single injection peribulbar block for retinal surgery.

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

Nephronophthisis-related ciliopathies (NPHP-RC) are degenerative recessive diseases that affect kidney, retina, and brain. Genetic defects in NPHP gene products that localize to cilia and centrosomes defined them as "ciliopathies." However, disease mechanisms remain poorly understood.