Purpose: To report a novel, identical nonsense mutation in the rhodopsin (RHO) gene in two Indonesian families with autosomal recessive retinitis pigmentosa (arRP). Methods: Mutation screening for the RHO gene was performed in 38 unrelated patients with retinitis pigmentosa (RP) by direct sequencing. Clinical features were also characterized, through complete ophthalmologic examination. Family members of RP patients testing positive for the RHO gene were subjected to genetic and clinical examination. To assess the founder effect in the two families, haplotype analysis also was performed. Results: A novel homozygous nonsense mutation was detected in two patients by a G to A transition at nucleotide position 482 in exon 2 of the RHO gene, resulting in substitution of a tryptophan-to-stop at codon 161 (c.482G>A, p.W161X). Examination of family members of these 2 patients showed that the affected members were homozygous and unaffected carriers were heterozygous for the p.W161X mutation. Haplotype analysis revealed that members of the two families carried the same disease-associated variants in markers (IVS1 RHO and D3S2322). No p.W161X mutations were detected in 45 normal Indonesian subjects, nor were any mutations detected in exons 1–5 of the RHO gene in the remaining 36 RP patients. Conclusion: We detected a novel, recessive nonsense mutation (p.W161X) in the RHO gene of two families through mutation screening of RHO in 38 Indonesian RP patients. Haplotype analysis suggested that p.W161X was the founder mutation.

Polydimethylsiloxanes (PDMS), (CH₃)₃SiO-[Si(CH₃)₂O]_n-Si(CH₃)₃, known as silicone oil is a tamponade liquid which is very important in vitreoretinal surgery, especially in the treatment of complicated retinal detachment. Here, we investigated the optical properties and structure of silicone oil with high viscosity silicone oil of 5500 cSt and low viscosity silicone oil of 1300 cSt in order to understand the changing of physical properties of silicone oil before and after using in vitreoretinal surgery as a tamponade liquid and analyze the relationship between the tamponade duration and changed in silicone oil properties. From UV-Vis spectroscopy and refractometer measurement, it is found some changes in transmittance and refractive index values in both silicone oil after using as a tamponade liquid. From fourier transform infrared (FT-IR) spectroscopy, some additional of functional groups of N-H and O-H bond are observed at 1634.5 cm^-1 and 3435.7 – 3764.5 cm^-1, respectively. The changes of optical and structure properties of silicone oil after using as a tamponade liquid are assumed to be responsible in emulsification of silicone oil and affect the transmittance quality at visible light spectrum. However, in this study, there is no linear corelation between tamponade duration and changed in silicone oil properties.

Introduction The incidence of blindness due to methanol intoxication is higher in males of productive age. The management of methanol-induced toxic optic neuropathy is yet to produce satisfactory results. Antioxidant therapy is now used as an alternative method of preventing methanol intoxication. The aim of this study was to observe the effect of TEMPOL (4-hydroxy-2,2,6,6-tetramethylpiperidinyl-1-oxyl), a superoxide dismutase (SOD) mimetic, on retinal ganglion cells in methanol-intoxicated rats. Methods This experimental study was conducted with 20 male Wistar rats that were 10–12 weeks old and weighed 300–350 g. The rats were divided into four groups that each received a different treatment: a negative control group, a positive control group, a methanol group, and a methanol + TEMPOL group. Enucleated eyes from all groups were sliced and stained using hematoxylin–eosin (HE). Retinal layer and ganglion cells were assessed based on cellular structure, cellular swelling, and vacuole formation in the ganglion cell layer as observed at × 200 magnification. The Kruskal–Wallis test and the Mann–Whitney test were used, with significance taken to correspond to p < 0.05. Results Retinal ganglion cells of the control group had fewer vacuoles and a more well-organized cellular structure compared to those of the methanol group. The histopathologic scores of the methanol-intoxicated group were lower than those of the TEMPOL therapy group; p = 0.011 (i.e., p < 0.05). Conclusions TEMPOL had a positive impact on the cellular structure of retinal ganglion cells in methanol-intoxicated rats.

The purpose of this review is to outline the currently available circulating biomarkers to predict diabetic retinopathy (DR) in patients with diabetic kidney disease (DKD). Studies have extensively reported the association between DR and DKD, suggesting the presence of common pathways of microangiopathy. The presence of other ocular complications including diabetic cataracts may hinder the detection of retinopathy, which may affect the visual outcome after surgery. Unlike DKD screening, the detection of DR requires complex, costly machines and trained technicians. Recognizing potential biological markers related to glycation and oxidative stress, inflammation and endothelial dysfunction, basement membrane thickening, angiogenesis, and thrombosis as well as novel molecular markers involved in the microangiopathy process may be useful as predictors of retinopathy and identify those at risk of DR progression, especially in cases where retinal visualization becomes a clinical challenge. Further investigations could assist in deciding which biomarkers possess the highest predictive power to predict retinopathy in clinical settings.

Patients with chronic kidney disease (CKD), including dialysis and transplant patients, are at greater risk of contracting SARS-CoV-2 due to kidney dysfunction and preexisting comorbidities. To date, a specific guideline on managing these high-risk patients infected with COVID-19 has not been established. As the current management of COVID-19 comprises mainly experimental drugs, the authors aim to provide information on dosing adjustments at different stages of kidney dysfunction and notable renal side effects. We performed a nonsystematical review of currently available COVID-19 drugs exploring several different clinical trial databases and search browsers. Several antivirals and monoclonal antibodies used in COVID-19 treatment require dosage adjustments in kidney dysfunction. In a global pandemic setting, nephrologists need to consider the appropriate dosage according to the renal function and closely monitor the side effects of different drug combinations to obtain the optimum therapeutic effect while avoiding further renal damage. Further studies are required to determine the safety and efficacy of these drugs in renal patients.

Rapid resolution of toxoplasma chorioretinitis treatment using quadruple therapy Arief Kartasasmita, Wendy P Muntur, Sutarya Enus, Erwin Iskandar Faculty of Medicine, Universitas Padjadjaran, Cicendo National Eye Hospital, Bandung, Indonesia Purpose: To compare the effectiveness of quadruple-drug therapy consisting of cotrimoxazole (trimethopin and sulfamethoxazole), clindamycin antibiotics, and oral corticosteroid versus triple therapy consisting of pyrimetamine, sulphadiazine, and oral corticosteroid in the resolution of toxoplasmic chorioretinitis. Methods: This was a double-blind randomized controlled trial with repeated measures using parallel design to compare the effectiveness of quadruple-drug therapy and triple-drug therapy in patients with toxoplasmic chorioretinitis. The measurement of lesion was done using automated computer software, calculating the average of lesion size from three fundus photographs taken from the baseline and at each follow-up visit. The analytical statistics were obtained using Mann–Whitney test, comparing percentage of lesion remission test in each examination. Results: The percentage of lesion remission in quadruple-drug therapy was higher than in triple-drug therapy from the first visit until the first follow-up visit, with a p-value of 0.001. In addition, the mean percentage of lesion remission from first visit to last visit was 57.5% and the median was 70.9% in the quadruple therapy group, while in the triple-drug therapy group the mean was 52.5% and the median was 54.0% (p=0.720). Conclusion: We conclude that the quadruple-drug therapy has a more rapid resolution effect on chorioretinitis lesion compared to triple therapy. Keywords: toxoplasma chorioretinitis, quadruple-drug therapy, triple-drug therapy