Primary scleral buckling vs. vitrectomy for stage 4A retinopathy of prematurity: a systematic review and meta-analysis of surgical outcomes.

Topic: To compare anatomic outcomes of primary scleral buckle (SB) vs. lens sparing pars plana vitrectomy (LSV) in treating retinopathy of prematurity (ROP) associated Stage 4A retinal detachment (RD).

Clinical Relevance: ROP is the leading cause of blindness in childhood in industrialized countries worldwide.

Comparative long-term outcomes of vitrectomy combined with anterior chamber intraocular lens to intra-scleral haptic fixation of posterior chamber intraocular lens.

Purpose: To evaluate the long-term clinical outcomes in patients with combined pars plana vitrectomy (PPV) with anterior chamber intraocular lens (ACIOL) to intrascleral haptic fixation (ISHF) using the Agarwal technique with fibrin glue to secure the scleral flap of a posterior chamber intraocular lens.

Methods: Retrospective, consecutive, single-center, comparative case series. 83 eyes were studied.

Nonpigmented Adenoma of the Retinal Pigment Epithelium Mimicking a Retinal Vasoproliferative Tumor Managed With Endoresection.

To present a case with signs suggestive of a retinal vasoproliferative tumor. A case report was evaluated and a surgical video presented. A 61-year-old White man presented with an amelanotic retinal tumor associated with exudation, retinal edema, and overlying telangiectatic vessels, suggestive of a retinal vasoproliferative tumor.

Zellweger Spectrum Disorder: Ophthalmic Findings from a New Natural History Study Cohort and Scoping Literature Review.

Purpose: Individuals with Zellweger spectrum disorder (ZSD) manifest a spectrum of clinical phenotypes but almost all have retinal degeneration leading to blindness. The onset, extent, and progression of retinal findings have not been well described. It is crucial to understand the natural history of vision loss in ZSD to define reliable endpoints for future interventional trials.

Xp11.3 microdeletion causing Norrie disease and X-linked Kabuki syndrome.

Purpose: To describe a novel case of Norrie disease and X-linked Kabuki syndrome caused by a microdeletion encompassing multiple genes on the X chromosome.

Observations: A 3-day-old boy born at full term had bilateral retrolental fibrovascular plaques. Surgery with lensectomy and vitrectomy revealed bilateral, closed funnel retinal detachments consistent with a clinical diagnosis of Norrie disease.

Genetic Diagnosis for 64 Patients with Inherited Retinal Disease.

The overlapping genetic and clinical spectrum in inherited retinal degeneration (IRD) creates challenges for accurate diagnoses. The goal of this work was to determine the genetic diagnosis and clinical features for patients diagnosed with an IRD. After signing informed consent, peripheral blood or saliva was collected from 64 patients diagnosed with an IRD.

Choroidal Neovascularization Is Common in Best Vitelliform Macular Dystrophy and Plays a Role in Vitelliform Lesion Evolution.

Objective: Choroidal neovascularization (CNV) is usually considered to be a late-stage complication in Best vitelliform macular dystrophy (BVMD) and can be difficult to diagnose with fluorescein angiography. This study used swept-source (SS) OCT angiography (OCTA) to evaluate the prevalence of CNV in BVMD, identify structural features associated with CNV, and provide insight into the role of CNV in vitelliform lesion evolution.

Design: Institutional review board-approved, retrospective, cross-sectional, and longitudinal study.

Profiling of visual acuity and genotype correlations in RP2 patients: a cross-sectional comparative meta-analysis between carrier females and affected males.

Background: X-linked retinitis pigmentosa (XLRP) is the most severe form of retinitis pigmentosa (RP) and accounts for 15-20% of all RP cases. In this study, we investigated the progression of visual acuity loss across age groups in female carriers and compared it to affected males.

Methods: A PubMed literature search was conducted, and RP2 cases were included based on specific inclusion criteria.

Correlation of features on OCT with visual acuity and Gass lesion type in Best vitelliform macular dystrophy.

Objective: To correlate structural features seen on optical coherence tomography (OCT) with best-corrected visual acuity (BCVA) and Gass lesion type in patients with Best vitelliform macular dystrophy (BVMD).

Methods And Analysis: This is a retrospective case series of consecutive patients with molecularly confirmed associated BVMD. OCT scans were reviewed for lesion status and presence of subretinal pillar, focal choroidal excavation (FCE), intraretinal fluid or atrophy.

Accuracy of automated machine learning in classifying retinal pathologies from ultra-widefield pseudocolour fundus images.

Aims: Automated machine learning (AutoML) is a novel tool in artificial intelligence (AI). This study assessed the discriminative performance of AutoML in differentiating retinal vein occlusion (RVO), retinitis pigmentosa (RP) and retinal detachment (RD) from normal fundi using ultra-widefield (UWF) pseudocolour fundus images.

Methods: Two ophthalmologists without coding experience carried out AutoML model design using a publicly available image data set (2137 labelled images).

Mitochondrial DNA A3243G variant-associated retinopathy: a meta-analysis of the clinical course of visual acuity and correlation with systemic manifestations.

Purpose: The mitochondrial DNA A3243G (m.3243A>G) variant causes a wide spectrum of phenotypes, with pigmentary retinopathy as the most common ocular finding. We undertook this meta-analysis to investigate the clinical course of visual acuity (VA) in patients with m.

Cell-Matrix Interactions in the Eye: From Cornea to Choroid.

The extracellular matrix (ECM) plays a crucial role in all parts of the eye, from maintaining clarity and hydration of the cornea and vitreous to regulating angiogenesis, intraocular pressure maintenance, and vascular signaling. This review focuses on the interactions of the ECM for homeostasis of normal physiologic functions of the cornea, vitreous, retina, retinal pigment epithelium, Bruch's membrane, and choroid as well as trabecular meshwork, optic nerve, conjunctiva and tenon's layer as it relates to glaucoma. A variety of pathways and key factors related to ECM in the eye are discussed, including but not limited to those related to transforming growth factor-β, vascular endothelial growth factor, basic-fibroblastic growth factor, connective tissue growth factor, matrix metalloproteinases (including MMP-2 and MMP-9, and MMP-14), collagen IV, fibronectin, elastin, canonical signaling, integrins, and endothelial morphogenesis consistent of cellular activation-tubulogenesis and cellular differentiation-stabilization.

Mitochondrial DNA A3243G variant-associated retinopathy: Current perspectives and clinical implications.

Cellular function and survival are critically dependent on the proper functionality of the mitochondrion. Neurodegenerative cellular processes including cellular adenosine triphosphate production, intermediary metabolism control, and apoptosis regulation are all mitochondrially mediated. The A to G transition at position 3243 in the mitochondrial MTTL1 gene that encodes for the leucine transfer RNA (m.

Predominance of hyperopia in autosomal dominant Best vitelliform macular dystrophy.

Background/aims: Patients with -associated autosomal dominant Best vitelliform macular dystrophy (AD-BVMD) have been reported to be hyperopic, but the prevalence of refractive error has not been described. This study aimed to characterise the type and degree of refractive error in a large cohort of patients with AD-BVMD compared with an age-similar group with -associated Stargardt disease.

Methods: This was a retrospective chart review of consecutive patients with molecularly confirmed AD-BVMD and Stargardt macular dystrophy seen at a single academic centre.

Predictive modeling of proliferative vitreoretinopathy using automated machine learning by ophthalmologists without coding experience.

We aimed to assess the feasibility of machine learning (ML) algorithm design to predict proliferative vitreoretinopathy (PVR) by ophthalmologists without coding experience using automated ML (AutoML). The study was a retrospective cohort study of 506 eyes who underwent pars plana vitrectomy for rhegmatogenous retinal detachment (RRD) by a single surgeon at a tertiary-care hospital between 2012 and 2019. Two ophthalmologists without coding experience used an interactive application in MATLAB to build and evaluate ML algorithms for the prediction of postoperative PVR using clinical data from the electronic health records.

Blink detection and magnetic force generation for correction of lagophthalmos, with specific regard to implant compatibility testing.

Purpose: The overall goal was to restore a normal and synchronous blink in unilateral lagophthalmos. We describe the biocompatibility profiling of a novel ferromagnetic implant used for electromagnetic eyelid force generation.

Methods: A non-contact blink detection system and an electromagnetic stimulation system were designed and tested.

The prognostic value of peripheral retinal nonperfusion in diabetic retinopathy using ultra-widefield fluorescein angiography.

Purpose: To investigate the prognostic value of peripheral retinal nonperfusion in patients with diabetic retinopathy using ultra-widefield fluorescein angiography (UWFA).

Methods: A cross-sectional study included 78 treatment-naïve eyes with nonproliferative and proliferative diabetic retinopathy (NPDR and PDR). Eyes were divided into three groups: mild/moderate NPDR (n = 31), severe NPDR (n = 31), and PDR (n = 16).

Author Correction: Propagation and Selectivity of Axonal Loss in Leber Hereditary Optic Neuropathy.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Novel mutation in causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature.

: Neonatal retinal folds and/or vitreoretinal traction can be signs of isolated ocular or syndromic disorders. Etiologies include retinopathy of prematurity, perinatal infections or inherited vitreoretinal disorders such as familial exudative vitreoretinopathy (FEVR) or Norrie disease. We present the clinical and genetic findings of a two-month-old infant with microcephaly, mild motor developmental delay, and FEVR, who required urgent surgical interventions.

Sector retinitis pigmentosa: Report of ten cases and a review of the literature.

Purpose: To describe the genotypes and phenotypes of ten patients with sector retinitis pigmentosa (RP). We also review previously reported mutations associated with sector RP and provide a discussion of possible underlying pathophysiological mechanisms.

Methods: Patients underwent detailed ophthalmologic examinations, fundus photography, fundus autofluorescence (FAF) imaging, spectral-domain optical coherence tomography (SD-OCT), as well as visual field and electroretinographic testing.

Prognostic factors of postoperative intraretinal cystoid spaces after primary pars plana vitrectomy for vitreomacular traction.

Purpose: To study the anatomical and surgical prognostic factors related to developing postoperative intraretinal cystoid spaces (ICS) six months after 25-gauge pars plana vitrectomy (PPV) for vitreomacular traction (VMT).

Methods: The study is a retrospective case series of patients presenting with VMT treated primarily with PPV. All patients underwent 25-gauge PPV by the same retina surgeon.

Retinal dystrophy associated with a Kizuna () mutation and a predominantly macular phenotype.

: Mutations in Kizuna (, a gene involved in ciliary function, have been previously associated with rod-cone dystrophy with relative macular sparing and a number of other systemic abnormalities.: We present a patient with a phenotype dominated by retinal dystrophy and macular cysts as a result of a homozygous nonsense mutation in : A 32-year-old female of Ashkenazi Jewish ancestry presented with progressive central vision loss and peripheral visual field loss following decades of night-blindness. She was noted to have a bull's-eye pattern of macular hyper-autofluorescence, intraretinal cystoid macular changes and outer retinal atrophy in both eyes.

Stickler syndrome: exploring prophylaxis for retinal detachment.

Purpose Of Review: The literature regarding prophylactic treatment of rhegmatogenous retinal detachment in Stickler syndrome remains controversial. We review major published clinical studies and offer a critical analysis of this subject.

Summary: Stickler syndrome is a systemic collagenopathy affecting multiple organ systems including the eye, ear, and skeleton.