Publications by authors named "Go Mawatari"

Purpose: The Retinitis Pigmentosa Progression and Inflammatory Marker Registry (RP-PRIMARY) is intended as a prospective observational study aimed at establishing sensitive outcome measures to detect the efficacy of anti-inflammatory agents in future clinical trials. The following is the RP-PRIMARY study protocol.

Study Design: Prospective, multicenter study.

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Purpose: To investigate the efficacy of our wearable night-vision aid in patients with concentric peripheral visual field loss.

Study Design: Prospective, single blind, three-group, and three-period crossover clinical study.

Methods: The study included patients with concentric peripheral visual field loss, a best-corrected visual acuity (decimal visual acuity) of 0.

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Article Synopsis
  • Inherited retinal diseases (IRDs) are diverse eye disorders leading to vision loss due to retinal degeneration, with retinitis pigmentosa (RP) being the most common type.
  • A study involving 1210 IRD families in Japan identified 67 causal genes in 37% of these cases, primarily focusing on genetic mutations in EYS and RP1 genes.
  • The research highlighted a frequent missense variant in the EYS gene and identified two known mutations linked to autosomal recessive RP, along with a notable RP1 variant linked to autosomal recessive macular dystrophy/cone-rod dystrophy.
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Purpose: Macular degeneration is the leading cause of blindness worldwide. In this study, we aimed to define a new subtype of macular-retinal dystrophy and its genetic predisposition in 5 families.

Methods: Exome sequencing was performed to determine the putative disease-causing genes in patients with inherited macular disorders confirmed through comprehensive ophthalmic examinations.

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() is one of the causative genes of inherited retinal dystrophy. While the gene is relatively common in Caucasians, reports from Asian ethnicities are limited. In the present study, we report 40 Japanese patients from 30 families with -associated retinal dystrophy.

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Purpose: Progressive addition lenses (PAL) are effective, particularly for middle-aged and elderly people who require reading spectacles. However, with PALs, peripheral vision may be distorted and blurred because of both the lateral bending of the surface and the effect of unequal bending of the light coming from an off-axis location in the tangential and sagittal directions, which may lead to a decrease in the quality of vision. Till date, no evaluation of PALs has been reported with regard to peripheral and binocular vision.

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Article Synopsis
  • * Found a variety of retinal disease phenotypes in a Japanese cohort, with retinitis pigmentosa being the most common, and discovered 26 pathogenic EYS variants, including seven new ones.
  • * Noted that specific variants p.(Gly843Glu) and p.(Thr2465Ser) are prevalent in families, suggesting that non-rare variants should be considered important in understanding common genetic disorders like EYS-RD.
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Variants in the retinitis pigmentosa GTPase regulator (RPGR) gene are a major cause of X-linked inherited retinal disorder (IRD). We herein describe the clinical and genetic features of 14 patients from 13 Japanese families harboring variants in a nationwide cohort. Comprehensive ophthalmological examinations were performed to classify the patients into one of the phenotype subgroups: retinitis pigmentosa (RP) and cone rod dystrophy (CORD).

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Purpose: We report a case of inferior rectus muscle aplasia in a 65-year-old woman.

Methods: Images were obtained using ocular motility photography and magnetic resonance imaging (MRI), and operative findings were analyzed.

Results: A 65-year-old woman presented with marked right hypertropia.

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