Utility of multimodal imaging in the clinical diagnosis of inherited retinal degenerations.

Inherited retinal degeneration (IRD) is a heterogeneous group of genetic disorders of variable onset and severity, with vision loss being a common endpoint in most cases. More than 50 distinct IRD phenotypes and over 280 causative genes have been described. Establishing a clinical phenotype for patients with IRD is particularly challenging due to clinical variability even among patients with similar genotypes.

NR2E3-Associated Retinopathy Presenting with Bilateral Choroidal Neovascularization.

Purpose: We describe an atypical presentation of an 11-year-old female with enhanced S-cone syndrome (ESCS).

Methods: Case report. The patient underwent a thorough ophthalmic examination and investigations such as colour fundus photography, optical coherence tomography, fundus autofluorescence, fluorescein and indocyanine angiography, an electroretinogram and genetic testing.

When do patients with retinitis pigmentosa present to ophthalmologists? A multi-centre retrospective study.

Background: Planned gene therapies for retinitis pigmentosa (RP) depend on viable photoreceptors for efficacy. Understanding disease severity at presentation, and drivers that influence time to presentation is important when planning interventions. We examined features that influence RP severity at initial presentation.

Common contact allergens implicated in frontal fibrosing alopecia found in over-the-counter hair growth serums and solutions.

Background: Frontal fibrosing alopecia (FFA) is a form of lichen planopilaris with an undetermined etiopathogenesis, predominantly affecting women. There is conflicting evidence as to whether contact allergens may play a role in the underlying etiology or progression of FFA.

Objective: The aim of this study is to find the most common products that patients search for online, identify contact allergens present in these advertised over-the-counter hair products, and suggest their role in the development or exacerbation of FFA.

A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease.

Purpose: To investigate the distribution of genotypes and natural history of ABCA4-associated retinal disease in a large cohort of patients seen at a single institution.

Design: Retrospective, single-institution cohort review.

Participants: Patients seen at the University of Iowa between November 1986 and August 2022 clinically suspected to have disease caused by sequence variations in ABCA4.

Features Associated With Vision in Eyes With Subfoveal Fibrosis From Neovascular Age-Related Macular Degeneration.

Purpose: To report the characteristics and correlation of visual acuity in eyes treated for neovascular age-related macular degeneration (nAMD) and developed fibrosis.

Design: Case-control study.

Methods: Three hundred fifty-six treatment-naive nAMD eyes that were treated for 12 months were included.

Diagnostic Challenges in -Associated Retinal Degeneration: One Gene, Many Phenotypes.

(1) Purpose: -associated retinal degeneration (-RD) is a phenotypically diverse disease that often evades diagnosis, even by experienced retinal specialists. This may lead to inappropriate management, delayed genetic testing, or inaccurate interpretation of genetic testing results. Here, we illustrate the phenotypic diversity of -RD using a series of representative cases and compare these to other conditions that closely mimic -RD.

Using Goldmann Visual Field Volume to Track Disease Progression in Choroideremia.

Purpose: Choroideremia is an X-linked choroidopathy caused by pathogenic variants in the gene. It is characterized by the early appearance of multiple scotomas in the peripheral visual field that spread and coalesce, usually sparing central vision until late in the disease. These features make quantitative monitoring of visual decline particularly challenging.

Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical data.

Mutations in ABCA4 are the most common cause of Mendelian retinal disease. Clinical evaluation of this gene is challenging because of its extreme allelic diversity, the large fraction of non-exomic mutations, and the wide range of associated disease. We used patient-derived retinal organoids as well as DNA samples and clinical data from a large cohort of patients with ABCA4-associated retinal disease to investigate the pathogenicity of a variant in ABCA4 (IVS30 + 1321 A>G) that occurs heterozygously in 2% of Europeans.

Cutaneous carcinosarcoma: a rare diagnosis.

Carcinosarcoma is a rare malignant tumor that is a combination of carcinoma (cancer of epithelial tissue) and sarcoma (cancer of mesenchymal tissue). In practice, it is more common to have either carcinoma or sarcoma individually, but it is novel to have a combination of the two; as a result, few cases have been reported. Carcinosarcoma typically occurs in visceral organs and is rare in the skin.

Surgical Technique to Treat Presbyopic Inlay-Associated Corneal Haze With Sequential Excimer Photoablation: A Case Series.

Purpose: To describe an approach using sequential excimer laser ablation of the stromal surface of the corneal flap with or without subsequent excimer ablation to the stromal bed to reduce presbyopic inlay-associated corneal haze.

Methods: Twelve patients who underwent KAMRA inlay (Acufocus) explantation due to corneal haze were included. The mean interval between explantation and the primary surgery (phototherapeutic keratotomy [PTK] to corneal flap) was 16.

Development of Retroperitoneal Abscess Following Routine Injection of Triamcinolone for Musculoskeletal Pain.

Unlabelled: Glucocorticoid intramuscular injections are a quick, routine procedure done in an outpatient setting to relieve musculoskeletal pain quickly. However, despite being a low-risk procedure it can lead to local infections, including abscess and skin necrosis, and even more rarely, bacteraemia and multi-organ failure. In this case, we present a healthy, immunocompetent woman in her 40s diagnosed with a retroperitoneal abscess due to methicillin-resistant after an intramuscular injection of triamcinolone.

Conjunctival infiltrates and cytokines in an experimental immune-mediated blepharoconjunctivitis rat model.

Purpose: To characterize the histopathological and immunological findings of a rat model of allergic blepharoconjunctivitis (BC) and demonstrate its potential utility for the assessment of BC therapies.

Methods: Sprague-Dawley (SD) rats were immunized with ovalbumin (OVA) and topically challenged with OVA (BC group) or PBS (control group), while a corticosteroid group was pre-treated with triamcinolone acetate 24 h before the challenge. Morphological features were evaluated and tissues were harvested for histological, flow cytometry and cytokine analysis.

RETINITIS PIGMENTOSA ASSOCIATED WITH THE EYS C2139Y VARIANT : An Important Cause of Blindness in East Asian Populations.

Purpose: The study aimed to describe the phenotypic features of retinitis pigmentosa (RP) associated with the previously described EYS C2139Y variant in Singaporeans and establish the importance of this variant as a prevalent cause of RP among East Asians.

Methods: A clinical phenotyping and exome-sequencing study was conducted on consecutive patients with nonsyndromic RP. Epidemiological analysis was performed using Singaporean and global population-based genetic data.

Long-term functional and structural outcomes in X-linked retinoschisis: implications for clinical trials.

Introduction: X-linked retinoschisis (XLRS) is an inherited retinal disease (IRD) caused by pathogenic mutations in the retinoschisin gene, . Affected individuals develop retinal layer separation, leading to loss of visual acuity (VA). Several XLRS gene therapy trials have been attempted but none have met their primary endpoints.

Drug-induced neutrophilic lobular panniculitis secondary to BRAF and MEK inhibitor used for treatment of low-grade glioma and its management.

An 8-year-old boy presented with his mother for evaluation of an erythematous rash 3 weeks after the start of dual BRAF-MEK inhibition with dabrafenib and trametinib for treatment of progression of low-grade glioma. Panniculitis has been reported as a rare adverse cutaneous event induced by BRAF inhibitors, MEK inhibitors, and the combined dual BRAF-MEK therapy. Based on the patient's history, clinical presentation, and histopathological findings, a diagnosis of drug-induced neutrophilic panniculitis was made.

The economic burden of inherited retinal disease in Singapore: a prevalence-based cost-of-illness study.

Objective: To assess the economic impact of inherited retinal disease (IRD) among Singaporeans.

Methods: IRD prevalence was calculated using population-based data. Focused surveys were conducted for sequentially enrolled IRD patients from a tertiary hospital.