Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.

Gyrate atrophy of the choroid and retina (GACR, OMIM #258870) is a rare inherited metabolic disorder characterized by progressive chorioretinal degeneration and hyperornithinemia. Current therapeutic modalities potentially slow disease progression but are not successful in preventing blindness. To allow for trial development, increased knowledge of the clinical phenotype and current therapeutic outcomes is required.

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy.

This study aims to describe the ophthalmic characteristics of autosomal dominant (AD) WFS1-associated optic atrophy (AD WFS1-OA), and to explore phenotypic differences with dominant optic atrophy (DOA) caused by mutations in the OPA1-gene. WFS1-associated diseases, or 'wolframinopathies', exhibit a spectrum of ocular and systemic phenotypes, of which the autosomal recessive Wolfram syndrome has been the most extensively studied. AD mutations in WFS1 also cause various phenotypical changes including OA.

Anterior scleral thickness in Marfan syndrome: A quantitative analysis.

Purpose: To investigate the anterior scleral thickness (AST) in patients with Marfan syndrome (MFS).

Methods: A prospective, cross-sectional study was conducted at the Department of Ophthalmology, Ghent University Hospital, Ghent, including patients with a genetically confirmed clinical diagnosis of MFS and age-, gender- and axial length-matched controls. Subjects with known corneal, conjunctival or scleral pathology and a history of ocular surgery, including pars plana vitrectomy, recent contact lens use or high-grade astigmatism were excluded.

Combining Surgery, Radiotherapy, and Topical Chemotherapy to Prevent Primary Orbital Exenteration for Atypical Caruncular Melanoma: A Case Report.

Introduction: This case report demonstrates the possibility of successful eye and vision-sparing therapy for caruncular melanoma.

Case Presentation: We present an atypical presentation of a caruncular melanoma. After excisional biopsy, residual flat conjunctival melanosis resolved using topical chemotherapy (5-fluorouracil), which was well tolerated.

Cognitive outcomes in Susac syndrome: A 2-year neuropsychological follow-up study.

Background And Purpose: Susac syndrome (SuS) is a rare, autoimmune, neurological disease characterized by a clinical triad of branch retinal artery occlusion, sensorineural hearing loss and encephalopathy. Neuropsychological functioning in SuS is little researched and the prevalence, nature, and evolution over time of cognitive deficits in SuS remain unclear. This study aimed to better understand the long-term neuropsychological outcomes of patients with SuS.

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.

Background: 5' untranslated regions (5'UTRs) are essential modulators of protein translation. Predicting the impact of 5'UTR variants is challenging and rarely performed in routine diagnostics. Here, we present a combined approach of a comprehensive prioritization strategy and functional assays to evaluate 5'UTR variation in two large cohorts of patients with inherited retinal diseases (IRDs).

Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in Patients with X-Linked Retinoschisis.

Purpose: To date, there is no standard treatment regimen for carbonic anhydrase inhibitors (CAIs) in X-linked retinoschisis (XLRS) patients. This retrospective study aims to evaluate the efficacy of CAIs on visual acuity and cystoid fluid collections (CFC) in XRLS patients in Dutch and Belgian tertiary referral centers.

Design: Retrospective cohort study.

Atypical clinical and novel radiological findings in Susac syndrome: Experience from a large monocentric cohort.

Susac syndrome (SuS) is a rare immune-mediated endotheliopathy that affects the brain, retina and inner ear and is characterised by the variable clinical triad of encephalopathy, visual and vestibulocochlear dysfunction. Here, we present clinical and paraclinical data of 19 SuS patients followed at Ghent University Hospital and highlight some atypical clinical and novel radiological findings. Our findings suggest that spinal involvement expands the clinical phenotype of SuS.

Optic nerve involvement in -related disease: observations from a multicentric case series.

Background: Congenital Stationary Night Blindness (CSNB) constitutes a group of non-progressive retinal disorders characterized by disturbances in scotopic vision and/or by a delay in adaptation to darkness, as well as by low visual acuity, myopia, nystagmus, and strabismus. Color vision and fundus appearance tend to be normal. To date, several CACNA1F gene variants have been linked to a CSNB phenotype but only few reports have focused on the optic nerve in this disease.

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.

North Carolina macular dystrophy (NCMD) is a rare autosomal-dominant disease affecting macular development. The disease is caused by non-coding single-nucleotide variants (SNVs) in two hotspot regions near PRDM13 and by duplications in two distinct chromosomal loci, overlapping DNase I hypersensitive sites near either PRDM13 or IRX1. To unravel the mechanisms by which these variants cause disease, we first established a genome-wide multi-omics retinal database, RegRet.

Expanding the Spectrum of Alkali Retinopathy: Maculopathy following Alkali Burn.

Ocular alkali burns are known to cause profound damage to the anterior segment, especially the cornea and conjunctiva. However, rarely, additional adjacent chorioretinal complications may ensue. These chorioretinal complications appear primary by direct penetration of the alkali or secondary to an elevated intraocular pressure (IOP).

An eye-opening case report of constrictive pericarditis.

Background: Constrictive pericarditis is characterized by the encasement of the heart by a stiff pericardium leading to impaired diastolic function, which ultimately leads to congestive heart failure.

Case Summary: We report a case of a young woman, who first presented to the ophthalmologist with the sudden appearance of floaters and vision reduction. Eventually, invasive haemodynamic assessment led to the diagnosis of constrictive pericarditis leading to venous congestion.

Serum Calcification Propensity T50 Associates with Disease Severity in Patients with Pseudoxanthoma Elasticum.

Pseudoxanthoma elasticum (PXE) is a currently intractable genetic disorder characterized by progressive ectopic calcification in the skin, eyes and arteries. Therapeutic trials in PXE are severely hampered by the lack of reliable biomarkers. Serum calcification propensity T50 is a blood test measuring the functional anticalcifying buffer capacity of serum.

Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial.

CEP290-associated Leber congenital amaurosis type 10 (LCA10) is a retinal disease resulting in childhood blindness. Sepofarsen is an RNA antisense oligonucleotide targeting the c.2991+1655A>G variant in the CEP290 gene to treat LCA10.

The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene.

Objective: To describe the spectrum of Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) associated with the GUCY2D gene and to identify potential end points and optimal patient selection for future therapeutic trials.

Design: International, multicenter, retrospective cohort study.

Subjects: Eighty-two patients with GUCY2D-associated LCA or CORD from 54 families.

X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients.

Purpose: To describe the natural course, phenotype, and genotype of patients with X-linked retinoschisis (XLRS).

Design: Retrospective cohort study.

Participants: Three hundred forty patients with XLRS from 178 presumably unrelated families.

The type-1 ribosome-inactivating protein OsRIP1 triggers caspase-independent apoptotic-like death in HeLa cells.

Ribosome-inactivating proteins (RIPs) are capable of removing a specific adenine from 28S ribosomal RNA, thus inhibiting protein biosynthesis in an irreversible manner. In this study, recombinant OsRIP1, a type 1 RIP from rice (Oryza sativa L.), was investigated for its anti-proliferative properties.

Scheimpflug-Based Analysis of the Reflectivity of the Cornea in Marfan Syndrome.

Purpose: We sought to investigate corneal reflectivity in Marfan syndrome (MFS) on the basis of Scheimpflug light intensity distribution.

Methods: In a retrospective case-control analysis, the left eyes of 40 MFS patients and 40 age- and refraction-matched healthy controls were investigated. Patients with MFS meeting the Ghent II diagnostic criteria and with genetic confirmation of disease were included.

ISOLATED MACULOPATHY AND MODERATE ROD-CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM.

Purpose: To describe an isolated maculopathy and an intermediate rod-cone dystrophy phenotype as the milder end of the RDH12-related retinal dystrophy spectrum.

Methods: Seven patients (17-34 years of age) underwent an extensive ophthalmic workup including psychophysical and electrophysiological testing and multimodal imaging.

Results: Three patients have isolated macular disease.

Long-Read Sequencing to Unravel Complex Structural Variants of Leading to Cone-Rod Dystrophy and Hearing Loss.

Inactivating variants as well as a missense variant in the centrosomal gene have been identified in autosomal recessive cone-rod dystrophy with hearing loss (CRDHL), a rare syndromic inherited retinal disease distinct from Usher syndrome. Apart from this, a complex structural variant (SV) implicating has been reported in CRDHL. Here we aimed to expand the genetic architecture of typical CRDHL by the identification of complex SVs of the region and characterization of their underlying mechanisms.

Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the gene.

Background: Leber hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease. The majority (>90%) is related to three primary mitochondrial DNA (mtDNA) variants: m.3460G>A, m.