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X-linked juvenile retinoschisis (XLRS) is an inherited retinal disease caused by mutations in the RS1 gene, resulting in splitting of the retinal layers and visual disturbances. To provide insights on this disease in our cohort, genetic examination, clinical presentation, and functional analysis were performed. We observed three main RS1 mutations in our cohort of six unrelated patients: RS1-D126G, RS1-R209H, and RS1-R213W. The RS1-D126G mutation, exclusively reported in Thai patients so far, showed the highest prevalence. Phenotypically, the D126G mutation manifested early (0.3–4 years old), presenting as asymmetrical visual acuity and schisis. Functional analysis revealed that the molecular pathomechanism of D126G was the failure of protein secretion attributable to endoplasmic reticulum retention. The understanding of the genotype-phenotype relationship and the pathomechanisms of specific mutations in a particular population could immensely benefit the pipeline of personalised treatment design for XLRS. [ABSTRACT FROM AUTHOR]

Alzheimer's disease is a type of neurodegenerative disorder that is characterized by the progressive degeneration of brain cells, leading to cognitive decline and memory loss. It is the most common cause of dementia and affects millions of people worldwide. While there is currently no cure for Alzheimer's disease, early detection and treatment can help to slow the progression of symptoms and improve quality of life. This research presents a diagnostic tool for classifying mild cognitive impairment and Alzheimer's diseases using feature-based machine learning applied to optical coherence tomographic angiography images (OCT-A). Several features are extracted from the OCT-A image, including vessel density in five sectors, the area of the foveal avascular zone, retinal thickness, and novel features based on the histogram of the range-filtered OCT-A image. To ensure effectiveness for a diverse population, a large local database for our study was collected. The promising results of our study, with the best accuracy of 92.17,% will provide an efficient diagnostic tool for early detection of Alzheimer's disease. [ABSTRACT FROM AUTHOR]

Purpose: To compare the efficacy in pupil dilatation between a mixture containing 0.75% tropicamide and 2.5% phenylephrine and the alternate application of 1% tropicamide and 10% phenylephrine eye drops. Material and Methods : Patients requiring pupil dilatation were randomized to receive one drop of the mixture every 10 min for four times or our standard application of one drop of 1% tropicamide alternating with one drop of 10% phenylephrine every 10 min for two cycles. Pupil size was measured under bright light with the pupil gauge before, and every 5 min after initial application for 40 min. Application of the drops was discontinued once the pupil diameter reached 7 mm. Blood pressure and pulse rate were monitored every 15 min. Results: Of 40 patients (age 57.3±10.9 years, range 35-70 years), 22 were randomized into the mixture group and 18 into the alternate drug group. Baseline pupil sizes were 1.7±0.5 mm in the mixture group and 1.8±0.4 mm in the alternate drug group. The pupils were successfully dilated to 7 mm within 40 min in 17 patients of the mixture group compared to seven patients in the alternate drug group ( P =0.004, Log Rank test). The mean pupil sizes at 40 min were 6.6±0.8 and 6.0±0.9 mm in the mixture and alternate drug groups respectively ( P =0.050, t-test). Blood pressure and pulse rate were stable and similar in both groups. Conclusions: The mixture of 0.75% tropicamide and 2.5% phenylephrine is superior to our standard application of 1% tropicamide alternating with 10% phenylephrine. It provides faster and more successful pupil dilatation within 40 min.

X-linked retinitis pigmentosa (XLRP), a rare form of retinitis pigmentosa (RP), is predominantly caused by mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene. Affected males often present with severe phenotypes and early disease onset. In contrast, female carriers are usually asymptomatic or show stationary phenotypes. Herein, we reported an 8-year-old female carrier, a daughter of a confirmed RP father with RPGR mutation, with an early onset of progressive cone-rod pattern retinal dystrophy. Additionally, the carrier experienced visual snow-like symptom as long as she recalled. Ophthalmological examination showed the reduction of visual acuity and attenuation of photoreceptor functions since the age of 5 years. Further analysis revealed a heterozygous pathogenic variant of the RPGR gene and a random X-inactivation pattern. Although she harboured an identical RPGR variant as the father, there were phenotypic intrafamilial variations. The information on the variety of genotypic and phenotypic presentations in XLRP carriers is essential for further diagnosis, management, and monitoring of these cases, including the design of future gene therapy trials. [ABSTRACT FROM AUTHOR]