Arief Kartasasmita

A novel nonsense mutation in rhodopsin gene in two Indonesian families with autosomal recessive retinitis pigmentosa.

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.

Visual Acuity Improvement in Continuous vs Divided Occlusion in Anisometropic Amblyopia

Purpose: To compare visual acuity improvement between continuous and split part-time occlusion for the treatment of moderate and severe anisometropic amblyopia. Methods: Randomised clinical trials in 6 – 13 y.o children with moderate and severe anisometropic amblyopia. Each patient was consecutively selected with continuous or split part-time occlusion. Best corrected visual acuity’s improvement was followed up to six weeks and statistical data were analyzed using chi square and unpaired t-test. Results: Best corrected visual acuity’s improvement was comparable between continuous and split part-time occlusion (0.20±0.27 vs 0.21±0.25; p = 0.79). Conclusion: Split part-time occlusion may be considered as an alternative treatment for moderate and severe anisometropic amblyopia treatment.

Evaluation of the inner-retinal cells survival after low duration laser treatment measured by electroretinogram in patient with diabetic retinopathy

Abstract Background and Objective: To evaluate the Inner-retinal cells survival after low duration laser treatment (50ms duration) measured by electroretinogram in patient with diabetic

Rapid resolution of toxoplasma chorioretinitis treatment using quadruple therapy

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.

Efficacy of single bevacizumab injection as adjuvant therapy to laser photocoagulation in macular edema secondary to branch retinal vein occlusion.

Background Macular grid laser photocoagulation remains the standard treatment for macular edema secondary to branch retinal vein occlusion (BRVO). One possible strategy for treating macular edema is to inhibit VEGF activity by competitive binding of VEGF with an anti-VEGF antibody, suggesting the therapy option with bevacizumab. However, multiple injections of anti-VEGF may lead to complications and high cost. Purpose The aim of this study was to evaluate the improvement in visual acuity and central macular thickness after combination therapy of laser photocoagulation with single intravitreal bevacizumab injection in macular edema secondary to BRVO. Methods Nineteen patients with macular edema secondary to BRVO were assigned to either the group of nine patients in combination therapy of laser photocoagulation with intravitreal bevacizumab or the group of ten patients in the laser photocoagulation therapy. Complete ophthalmologic examinations were performed just before the therapy and at 1 month following the therapy. Changes in visual acuity were tested with the logarithm of minimum angle of resolution (logMAR), and central macular thickness was measured by optical coherence tomography (OCT). Results Combination therapy of laser photocoagulation and single intravitreal bevacizumab injection resulted in a significantly better visual acuity compared to laser photocoagulation therapy (0.35 versus 0.13 logMAR; P=0.041) and reduced macular thickness by 120.33 µm versus 71.50 µm (P=0.277), although this difference was not significant. Conclusion Laser photocoagulation combined with a single intravitreal bevacizumab has a substantial effect on increasing visual acuity in macular edema secondary to BRVO.

Characterization of Optical and Structure Properties of Polydimethylsiloxanes

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.

Learning curve of sutureless transconjunctival 20-gauge vitrectomy

Background To report the learning curve of transition from 20-gauge (20 G) conventional vitrectomy to a 20 G sutureless vitrectomy technique. Materials and methods This is a retrospective descriptive case study of 32 eyes from 32 consecutive patients who underwent sutureless 20 G pars plana vitrectomy. A 20 G microvitreoretinal blade was introduced, beveled transconjunctivally, slowly, parallel with the limbus, creating a conjunctivoscleral tunnel incision. Study participants were divided into three groups, and surgical time, induced astigmatism, and complications were compared. Results Of 32 consecutive patients, there was no significant difference in induced astigmatism or maneuvering between the early learning curve and other groups. The true learning curve was the first three patients. There were three cases where suturing the sclerotomy was necessary: one port in each case, three of 32 cases (9.3%), or three of 96 ports (2.9%). Conclusion There were no significant difficulties in surgical maneuvers while performing 20 g sutureless vitrectomy.