Ocular Characteristics and Genotype-Oriented Disease Spectrum of Alström Syndrome in Taiwan.

Purpose: This study aimed to describe the ophthalmological features of Alström syndrome, a rare syndromic ciliopathy, and to delineate the genotype-associated disease spectrum.

Methods: Eight Taiwanese patients were recruited for this study. Pathogenic variants were identified using next-generation sequencing, and medical records were reviewed for systemic involvement.

Predictors of macular edema recurrence and visual outcomes in branch retinal vein occlusion treated with aflibercept or ranibizumab.

Purpose: To investigate the risk factors for visual outcomes and recurrence of macular edema (ME) in branch retinal vein occlusion (BRVO) after intravitreal injection (IVI) of anti-vascular endothelial growth factor (anti-VEGF) agents.

Methods: Thirty eyes of 30 patients with recent-onset, treatment naive BRVO with ME receiving IVI aflibercept and ranibizumab in a tertiary care hospital were enrolled retrospectively. Treatment response was classified into "responsive group" and "recurrent/refractory group" by absence or presence of ME after consecutive monthly IVI anti-VEGF therapy.

A deep learning-based ADRPPA algorithm for the prediction of diabetic retinopathy progression.

As an alternative to assessments performed by human experts, artificial intelligence (AI) is currently being used for screening fundus images and monitoring diabetic retinopathy (DR). Although AI models can provide quasi-clinician diagnoses, they rarely offer new insights to assist clinicians in predicting disease prognosis and treatment response. Using longitudinal retinal imaging data, we developed and validated a predictive model for DR progression: AI-driven Diabetic Retinopathy Progression Prediction Algorithm (ADRPPA).

Genetics in neovascular age-related macular degeneration susceptibility and treatment response to anti-VEGF intravitreal injection: A case series study.

Background: To identify genotypes associated with neovascular age-related macular degeneration (nAMD) and investigate the associations between genotype variations and anti-vascular endothelial growth factor (VEGF) treatment response.

Methods: This observational, retrospective, case series study enrolled patients diagnosed with nAMD who received anti-VEGF treatment in National Taiwan University Hospital with at least one-year follow-up between 2012 and 2020. A genome-wide association study (GWAS) was conducted on enrolled patients and controls.

Metabolomics facilitates differential diagnosis in common inherited retinal degenerations by exploring their profiles of serum metabolites.

The diagnosis of inherited retinal degeneration (IRD) is challenging owing to its phenotypic and genotypic complexity. Clinical information is important before a genetic diagnosis is made. Metabolomics studies the entire picture of bioproducts, which are determined using genetic codes and biological reactions.

Two-Year Real-World Results for Aflibercept Using the Treat-and-Extend Regimen in Neovascular Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy.

Introduction: To evaluate the real-world efficacy of aflibercept using the treat-and-extend (TnE) regimen in treating neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV), and to analyze biomarkers using optical coherence tomography (OCT) to predict treatment outcomes.

Methods: Patients diagnosed with nAMD or PCV who received an intravitreal injection of aflibercept following the TnE regimen for ≥ 2 years were retrospectively reviewed. Data on best-corrected visual acuity (BCVA), number of injections, treatment interval, and OCT biomarkers, including central macular thickness, presence of subretinal fluid (SRF), and serous pigmented epithelial detachment, were collected at baseline and at 3, 6, 12, 18, and 24 months after the first injection.

Optical coherence tomography as a useful adjunct in the early detection of meningioma with optic nerve compression.

A 48-year-old woman presented with persistent clouding vision in her lower field in the right eye for 5 months. A small retinal hemorrhage was initially reported. Her visual acuity was 20/30 in the right eye and 20/20 in the left, with normal color vision and pupil response.

The Clinical Contribution of Full-Field Electroretinography and 8-Year Experiences of Application in a Tertiary Medical Center.

Electroretinography (ERG) is an important and well-established examination for retinal and visual pathway diseases. This study reviewed the medical records of patients who received full-field ERG (ffERG) at a single medical center between 2012 and 2019, which was an 8-year experience in the clinical contribution of ERG. Based on the indication for scheduling ffERG and the final diagnosis, patients could be classified into six groups: 'retinal dystrophies', 'other retinal or macular diseases', 'optic neuropathies', 'visual complaints', 'systemic diseases', and 'others'.

HYPERREFLECTIVE FOCI AS IMPORTANT PROGNOSTIC INDICATORS OF PROGRESSION OF RETINITIS PIGMENTOSA.

Purpose: To investigate the presence and clinical relevance of hyperreflective foci (HRFs) in retinitis pigmentosa.

Methods: Seventy seven retinitis pigmentosa cases were retrospectively reviewed. The 10-mm wide cross-line macular scans in optical coherence tomography were acquired.

Clinical features and prognosis of polypoidal choroidal vasculopathy with different morphologies of branching vascular network on optical coherence tomography angiography.

This study highlights the clinical features and treatment response of polypoidal choroidal vasculopathy (PCV) among three different branching vascular network (BVN) morphologies in optical coherence tomography angiography (OCTA), and further correlates the BVN features with those under fluorescent angiography (FA) and indocyanine green angiography (ICGA). In total, we reviewed 70 eyes with PCV followed up for > 12 months. OCTA, ICGA and FA images were obtained at baseline and post-treatments.

Leber's Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations.

Leber's congenital amaurosis (LCA), one of the most severe inherited retinal dystrophies, is typically associated with extremely early onset of visual loss, nystagmus, and amaurotic pupils, and is responsible for 20% of childhood blindness. With advances in molecular diagnostic technology, the knowledge about the genetic background of LCA has expanded widely, while disease-causing variants have been identified in 38 genes. Different pathogenetic mechanisms have been found among these varieties of genetic mutations, all of which result in the dysfunction or absence of their encoded proteins participating in the visual cycle.

Hyperreflective foci in predicting the treatment outcomes of diabetic macular oedema after anti-vascular endothelial growth factor therapy.

This retrospective study evaluated the association of hyperreflective foci (HRF) with treatment response in diabetic macular oedema (DME) after anti-vascular endothelial growth factor (VEGF) therapy. The medical records, including of ophthalmologic examinations and optical coherence tomography (OCT) images, of 106 patients with DME treated with either intravitreal ranibizumab or aflibercept were reviewed. The correlations between best-corrected visual acuity (BCVA) changes and HRF along with other OCT biomarkers were analysed.

Recurrent retinal detachment after diabetic vitrectomy.

Purpose: To investigate the characteristics of recurrent retinal detachment (RD) after diabetic vitrectomy (DV).

Methods: Consecutive cases underwent vitrectomy for recurrent RD after DV was collected and separated into the following four groups for analysis: rhegmatogenous RD (RRD), pure tractional RD (Proliferative Subgroup 1), combined RD with proliferative tissue within the equator (Proliferative Subgroup 2), and combined RD with both posterior and peripheral proliferations (Proliferative Subgroup 3).

Results: Of the 41 cases enrolled, retinal reattachment was achieved in 73.

Survival outcomes of eye-sparing surgery for adenoid cystic carcinoma of lacrimal gland.

Purpose: To survey adenoid cystic carcinoma of lacrimal glands in Asian population and investigate the predictability in prognosis following the 8 edition American Joint Committee on Cancer (AJCC) staging guideline.

Study Design: Retrospective study.

Methods: The clinical entities and surgical outcomes of the patients who were histologically confirmed with a diagnosis of lacrimal adenoid cystic carcinoma in National Taiwan University Hospital between January 1995 and December 2015 were retrospectively reviewed.

Characterizing Branching Vascular Network Morphology in Polypoidal Choroidal Vasculopathy by Optical Coherence Tomography Angiography.

This study analyze the morphological characteristics of branching vascular networks (BVN) in polypoidal choroidal vasculopathy (PCV) using optical coherence tomography angiography (OCTA), and correlate imaging characteristics with clinical presentations. We presented a retrospective observational case series for fifty cases of PCV confirmed by indocyanine green angiography. Macular OCTA were done by the AngioVue.

Vitrectomy for complications of proliferative diabetic retinopathy in young adults: clinical features and surgical outcomes.

Purpose: To investigate the clinical manifestations and surgical results after vitrectomy for proliferative diabetic retinopathy (PDR) in young patients.

Methods: Clinical features of patients between 18 to 40 years old who received vitrectomy for PDR between January 2009 and January 2015 were retrospectively reviewed. Those older than 40 years who received vitrectomy for PDR during the same period were retrospectively enrolled and compared as the control group.

Exploring the Divergence Range for Stereopsis Maintenance With a Computer-Simulated Troposcope in Patients With Intermittent Exotropia.

Purpose: To investigate whether sensory input or motor signal of the extraocular muscle is the main activator of suppression in human intermittent exotropia (X(T)).

Methods: A case-control study was performed. Ten subjects with X(T) and 10 control participants were enrolled.