Genotypic Homogeneity in Distinctive Transforming Growth Factor-Beta Induced (TGFBI) Protein Phenotypes.

Background: To evaluate the distribution of the transforming growth factor-beta induced (TGFBI) corneal dystrophies in a multi-ethnic population in Singapore, and to present the different phenotypes with the same genotype. Methods: This study included 32 patients. Slit lamp biomicroscopy was performed for each patient to determine the disease phenotype. Genomic DNA was extracted from the blood samples and the 17 exons of the TGFBI gene were amplified by PCR and sequenced bi-directionally for genotype analysis. Results: Regarding phenotypes, the study patients comprised 11 (34.4%; 8 with R555W and 3 with R124H mutation) patients with granular corneal dystrophy type 1 (GCD1), 6 (18.8%; 5 with R124H and 1 with R124C mutation) patients with GCD2, 13 (40.6%; 7 with R124C, 2 with H626R, 2 with L550P, 1 with A620D and 1 with H572R) patients with lattice corneal dystrophy (LCD) and 2 (6.3%; 1 with R124L and 1 with R124C) patients with Reis-Bückler corneal dystrophy. Regarding genotype, R124H mutation was associated with GCD2 (5 cases; 62.5%) and GCD1 (3 cases; 37.5%). R124C mutation was associated with LCD (7 cases; 87.5%) and GCD2 (1 case; 12.5%). All the 8 cases (100%) of R555W mutation were associated with GCD1. Conclusions: Although the association between genotype and phenotype was good in most cases (65.7%; 21 of 32 patients), genotype/phenotype discrepancy was observed in a significant number.

Evaluation of Intraocular Pressure After Water Drinking Test in Patients with Unilateral Hemifacial Spasm.

PURPOSE: The aim of the study is to examine the baseline intraocular pressure (IOP) and its changes after performing a water drinking test (WDT) in patients with unilateral hemifacial spasm (HFS). PATIENTS AND METHODS: In this prospective observational study, patients aged 21 years and above diagnosed with unilateral HFS were recruited from the Singapore National Eye Centre between January 2015 and August 2016. The unaffected eye of each patient served as a matched control. An interviewer-administered standardized questionnaire on HFS symptoms and ophthalmic examination was performed. Automated perimetry, optical coherence tomography (OCT) of the optic nerve head, color disc stereophotography and water drinking test (WDT) were done. The primary outcome measure was the difference in IOP between eyes affected by HFS and fellow eyes at baseline and at 15, 30 and 45 minutes of the WDT. RESULTS: Fifty-four patients with unilateral HFS were included. Mean age was 59.8±9.9 years (range, 37.0-84.0). Of these, 54% were female and 94% were Chinese. Mean baseline IOP was significantly higher in eyes with HFS (13.9±3.1mmHg) compared to fellow eyes (13.3±2.8mmHg) (p=0.008). There was no significant difference in absolute or percentage change in IOP from baseline between the 2 groups at 15, 30 and 45 minutes of the WDT. Mean vertical cup-disc ratio (VCDR) on clinical examination was significantly higher in eyes with HFS (0.5±0.2) compared to fellow eyes (0.4±0.2) (p=0.02). There was no significant difference between the groups for visual field parameters and mean retinal nerve fiber layer thickness on OCT. CONCLUSION: Hemifacial spasm is associated with a small but significant difference in mean baseline IOP and VCDR between affected and fellow eyes. However, when eyes affected by HFS and fellow eyes were challenged with the WDT, both responded in similar ways.

ZIKA-RELATED MACULOPATHY.

PURPOSE: To report a case of unilateral maculopathy associated with acute Zika virus infection. METHODS: Observational case report of one patient. RESULTS: A 22-year-old man presented with acute blurring of vision 10 days after symptoms of Zika virus infection. Findings resembling unilateral acute idiopathic maculopathy of the right eye were noted on ophthalmoscopy, fluorescein angiography, indocyanine green angiography, and optical coherence tomography. Localized macular dysfunction in the right eye was noted on multifocal electroretinography. The left eye was normal. He was managed conservatively with resolution of symptoms in 3 weeks. CONCLUSION: We describe a case of unilateral acute idiopathic maculopathy-like disease in a patient with reverse transcriptase polymerase chain reaction-confirmed Zika virus infection.

Evaluation of subconjunctival liposomal steroids for the treatment of experimental uveitis.

Non-infectious anterior uveitis (AU) is a potentially sight threatening inflammatory condition. The current gold standard for treatment is topical steroids, but low ocular bioavailability and compliance issues with the intensive dosing regimen limit the efficacy of this treatment. Liposomes as a drug delivery system may help to overcome these problems. We studied the efficacy of a PEG-liposomal formulation of liposomal steroids, administered as a single subconjunctival dose, in the treatment of experimental uveitis in rabbit eyes. Rabbits that received subconjunctival liposomal triamcinolone acetonide phosphate (LTAP) or liposomal prednisolone phosphate (LPP) had significantly lower mean inflammatory scores than untreated controls on Day 4 after induction of uveitis (LPP vs controls, p = 0.049) and 8 (LPP vs controls, p = 0.007; LTAP vs controls, p = 0.019), and lower scores than rabbits given topical PredForte1% 4 times a day on Day 8 (p = 0.03). After antigen rechallenge, the subconjunctival liposomal steroid groups continued to have greater suppression of inflammation than untreated controls on Day 11 (p = 0.02). Localization of liposomes in inflamed ocular tissue was confirmed by histology and immunostaining, and persisted in the eye for at least one month. Our study demonstrates that a single subconjunctival injection of liposomal steroids induces effective and sustained anti-inflammatory action.

Choroidal Thickness Changes in Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy: A 12-Month Prospective Study.

PURPOSE: To describe 12-month changes in choroidal thickness after anti-vascular endothelial growth factor (anti-VEGF) therapy for typical age-related macular degeneration (AMD) and polypoidal choroidal vasculopathy (PCV). DESIGN: Prospective, consecutive, noninterventional, longitudinal case series. METHODS: This study included patients with typical AMD and PCV who received anti-VEGF therapy over a 12-month period. We used spectral-domain optical coherence tomography with enhanced depth imaging mode to measure choroidal thickness. RESULTS: Of the 163 patients, 77 had typical AMD and 86 had PCV. Patients with PCV were younger (67.6 vs 72.5 years, P < .01) and received fewer anti-VEGF injections (3.9 vs 5.6, P = .02) than patients with typical AMD. Baseline subfoveal choroidal thickness was not significantly different between PCV and typical AMD eyes, and was thicker in the study eye compared to fellow eye in the typical AMD group (223.1 vs 208.8 µm, P < .01). Subfoveal choroidal thickness decreased significantly in both typical AMD (213.7 µm to 190.3 µm, P < .001) and PCV (240.8 µm to 213.4 µm, P < .01) eyes, but no significant change was noted in fellow unaffected eyes. Reduction in choroidal thickness was associated with elevated C-reactive protein (odds ratio [OR]: 1.4, P = .04) and smoking (OR: 7.6, P = .03) at baseline, but not with age, refractive error, diagnosis of typical AMD or PCV, number or type of anti-VEGF injections, PDT therapy, or baseline choroidal thickness. CONCLUSIONS: A significant reduction in subfoveal choroidal thickness was noted after anti-VEGF therapy in typical AMD and PCV. Choroidal thickness changes were similar despite differences in number of anti-VEGF treatment.