Erwin Iskandar

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.

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.