Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.

Development of the anterior segment of the eye requires reciprocal sequential interactions between the arising tissues, facilitated by numerous genetic factors. Disruption of any of these processes results in congenital anomalies in the affected tissue(s) leading to anterior segment disorders (ASD) including aniridia, Axenfeld-Rieger anomaly, congenital corneal opacities (Peters anomaly, cornea plana, congenital primary aphakia), and primary congenital glaucoma. Current understanding of the genetic factors involved in ASD remains incomplete, with approximately 50% overall receiving a genetic diagnosis.

The Red Reflex Test and Leukocoria in Childhood.

The red reflex test, performed using a direct ophthalmoscope, serves as a critical diagnostic tool in identifying various ocular conditions. These conditions encompass retinal anomalies (such as retinoblastoma, Coats disease, retinopathy of prematurity, familial exudative vitreoretinopathy, myelinated nerve fibers, ocular toxocariasis, ocular toxoplasmosis, retinochoroidal coloboma, astrocytic, and combined hamartoma), vitreous abnormalities (including persistent fetal vasculature), lens issues (like cataract), anterior chamber and corneal conditions (comprising dysgenesis of the anterior segment, congenital glaucoma, birth trauma), and tear film disturbances. During this examination, the presence of leukocoria, characterized by a white pupillary reflex, can suggest the presence of underlying conditions.

Risk factors for suprachoroidal hemorrhage associated with glaucoma surgery in children: a case-control study.

Purpose: To assess the risk factors for suprachoroidal hemorrhage (SCH) following glaucoma surgery in pediatric patients at a tertiary eye center.

Methods: The medical records of 326 patients (326 eyes) who underwent glaucoma surgery between January 2014, and September 2017 were reviewed retrospectively. Seventeen cases with SCH were compared with 309 controls who underwent uneventful glaucoma surgery during the same period.

Progression to bilaterality in unilateral primary congenital glaucoma.

Purpose: To evaluate the incidence of rise in intraocular pressure (IOP) in fellow eyes of patients with unilateral primary congenital glaucoma (PCG) and to identify risk factors for IOP increase over long-term follow-up.

Methods: The medical records of unilateral PCG patients who had completed at least 5 years of follow-up were reviewed retrospectively. The incidence of developing ocular hypertension / glaucoma in fellow eyes was analyzed.

The Increased Burden of Rare Variants in Four Matrix Metalloproteinase-Related Genes in Childhood Glaucoma Suggests a Complex Genetic Inheritance of the Disease.

Childhood glaucoma encompasses congenital and juvenile primary glaucoma, which are heterogeneous, uncommon, and irreversible optic neuropathies leading to visual impairment with a poorly understood genetic basis. Our goal was to identify gene variants associated with these glaucoma types by assessing the mutational burden in 76 matrix metalloproteinase-related genes. We studied 101 childhood glaucoma patients with no identified monogenic alterations using next-generation sequencing.

Indications and Outcomes of Intraocular Lens Explantation in a Tertiary Eyecare Center in Hungary between 2006 and 2020.

Purpose: Our study aimed to evaluate the indications and outcomes of intraocular lens (IOL) explantation surgeries in a tertiary eyecare center in Hungary.

Materials And Methods: This retrospective study included all IOL explantation surgeries performed between 2006 and 2020 at the Department of Ophthalmology of Semmelweis University, Budapest, Hungary. There were no exclusion criteria for this study.

Long-term efficacy and safety of posterior endoscopic cyclophotocoagulation in refractory glaucoma: A 5-year follow-up study at a tertiary eye center.

Purpose: To evaluate the long-term efficacy of endoscopic cyclophotocoagulation (ECP) via a pars plana approach in a large cohort of refractory glaucoma patients DESIGN: Single-center, retrospective, longitudinal, cohort study.

Methods: This study recruited patients who underwent ECP and consecutively visited and were followed up for at least 5 years at Beijing Tongren Eye Center, China from January 2013 to December 2017. All patients underwent a complete ophthalmic examination.

Paul Glaucoma Implant following Congenital Cataract Surgery in a Pediatric Cohort.

: The aim of this study was to evaluate the short-term efficacy and safety of the Paul Glaucoma Implant (PGI) in pediatric eyes diagnosed with glaucoma following congenital cataract surgery (GFCS). : A retrospective, single-center, descriptive study was conducted on consecutive children diagnosed with GFCS who underwent PGI implantation between July 2022 and November 2023 at the University Medical Center Mainz. The primary outcome measure was the reduction in IOP at the last follow-up visit.

Chromatic visual evoked potentials: A review of physiology, methods and clinical applications.

Objective assessment of the visual system can be performed electrophysiologically using the visual evoked potential (VEP). In many clinical circumstances, this is performed using high contrast achromatic patterns or diffuse flash stimuli. These methods are clinically valuable but they may only assess a subset of possible physiological circuitries within the visual system, particularly those involved in achromatic (luminance) processing.

Incidence Rate of Secondary Glaucoma Following Congenital Cataract Surgery: An In-Depth Systematic Review and Meta-Analysis.

Purpose: To assess the incidence of secondary glaucoma in children following congenital cataract surgery.

Design: Systematic review and meta-analysis.

Methods: The PubMed, Embase, Cochrane Library, and Web of Science databases were searched from inception through March 16, 2023.

Macular and peripapillary vascular parameters in the fellow eyes of unilateral primary congenital glaucoma: a comparative study.

Purpose: To study the fellow eyes of patients with unilateral primary congenital glaucoma (PCG) using optical coherence tomography angiography (OCTA) and compare them to normal age- and refractive error-matched healthy controls.

Methods: Using OCTA, the foveal avascular zone (FAZ) area, cup:disk ratio, vessel density (VD) of the optic nerve head (ONH) and peripapillary area and the macular VD in superficial (SCP) and deep vascular complexes in both 3 mm and 6 mm scans of both groups were compared. Clinical data included best-corrected visual acuity (BCVA), cycloplegic refraction, intraocular pressure (IOP), anterior and posterior segments examination findings, including ONH cup:disk ratio.

Chromatic vision and structural assessment in primary congenital glaucoma.

Primary congenital glaucoma is a rare disease that occurs in early birth and can lead to low vision. Evaluating affected children is challenging and there is a lack of studies regarding color vision in pediatric glaucoma patients. This cross-sectional study included 21 eyes of 13 children with primary congenital glaucoma who were assessed using the Farnsworth D-15 test to evaluate color vision discrimination and by spectral domain optical coherence tomography to measure retinal fiber layer thickness.

Non-penetrating deep sclerectomy versus combined trabeculotomy-trabeculectomy in primary congenital glaucoma.

Background: The primary mode of therapy in children with primary congenital glaucoma (PCG) and mild or no corneal edema is goniotomy, which has a high success rate. However, in developing countries, the diagnosis of PCG is usually delayed, and corneal cloudiness interferes with goniotomy. Therefore, trabeculotomy may be the best choice in such eyes.