La-ongsri Atchaneeyasakul

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PURPOSE Apoptosis is known to play a role in cell death in transient retinal ischemia. Little is known about the specific molecular pathways involved. The purpose of the current study was to evaluate a rat model of central retinal artery occlusion (CRAO) that simulates the clinical features of CRAO in humans and to elucidate whether the mitochondrial(More)
PURPOSE To identify disease-causing mutations and describe genotype-phenotype correlations in Thai patients with nonsyndromic retinitis pigmentosa (RP). METHODS Whole exome sequencing was performed in 20 unrelated patients. Eighty-six genes associated with RP, Leber congenital amaurosis, and cone-rod dystrophy were analyzed for variant detection. (More)
PURPOSE To identify the causative paired box 6 (PAX6) mutation in a family with autosomal dominant aniridia. METHODS A family with autosomal dominant aniridia with three affected individuals in two generations was investigated for the causative PAX6 mutation by single strand conformation polymorphism (SSCP) followed by sequencing of genomic DNA from(More)
PURPOSE Identification of transcription factors that regulate the transcription of the vascular endothelial growth factor (VEGF) gene may facilitate understanding of the etiology and progression of ocular neovascular diseases. The purpose of this study was to determine whether transcriptional enhancer factor 1-related (RTEF-1) was present within ocular(More)
OBJECTIVE To demonstrate the progression of electroretinographic (ERG) findings in mucolipidosis IV. METHODS Two patients with mucolipidosis IV were examined clinically and their condition was followed up for ophthalmic manifestations of the disease. Electroretinograms were performed on both patients, and conjunctival biopsy specimens were analyzed for(More)
PURPOSE Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal degenerations characterized by progressive loss of photoreceptor cells and RPE functions. More than 70 causative genes are known to be responsible for RP. This study aimed to identify the causative gene in a patient from a consanguineous family with(More)
PURPOSE To evaluate the value of electroretinogram (ERG) and visual evoked potentials (VEP) in children with nonsyndromic microcephaly. METHODS In this observational case series, six children with nonsyndromic microcephaly aged 8.5 to 158 months were examined. Main outcome measures included the amplitude of the flash ERG (photopic, flickering, scotopic,(More)
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