Kei Mizobuchi
Overview
Explore the profile of Kei Mizobuchi including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
57
Citations
280
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Mizobuchi K, Hayashi T, Kameya S, Ohta Y, Kuribayashi K, Shinoda K
Doc Ophthalmol
. 2025 Feb;
PMID: 39976817
Purpose: RPE65-associated retinopathy is a rare form of inherited retinal dystrophy. This case report aimed to describe a patient with biallelic RPE65 variants who demonstrated a milder phenotype compared to...
2.
Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn S, Iglesias-Romero A, et al.
medRxiv
. 2025 Jan;
PMID: 39830270
The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ~30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the...
3.
Suga A, Mizobuchi K, Inooka T, Yoshitake K, Minematsu N, Tsunoda K, et al.
Genet Med Open
. 2024 Dec;
2:101843.
PMID: 39669618
Purpose: Achromatopsia (ACHM) is an early-onset cone dysfunction caused by 5 genes with cone-specific functions (, , , and ) and by , a transcription factor with ubiquitous expression. To...
4.
Higa N, Hayashi T, Mizobuchi K, Iwasa M, Kubota S, Kuniyoshi K, et al.
Front Med (Lausanne)
. 2024 Oct;
11:1442107.
PMID: 39359914
Introduction: In Japan, inherited retinal dystrophy caused by biallelic variants of the gene is exceedingly rare. The purpose of this study was to describe a Japanese male patient with a...
5.
Inooka T, Hayashi T, Tsunoda K, Kuniyoshi K, Kondo H, Mizobuchi K, et al.
Retina
. 2024 Sep;
44(10):1836-1844.
PMID: 39287548
Purpose: To ascertain the characteristics of achromatopsia (ACHM) in Japan by analyzing the genetic and phenotypic features of patients with ACHM. Methods: The medical records of 52 patients from 47...
6.
Sato T, Kuniyoshi K, Hayashi T, Nishiwaki H, Mizobuchi K, Kusaka S
Doc Ophthalmol
. 2024 Apr;
148(3):173-182.
PMID: 38630375
Background: KCNV2-associated retinopathy causes a phenotype reported as "cone dystrophy with nyctalopia and supernormal rod responses (CDSRR; OMIM# 610356)," featuring pathognomonic findings on electroretinography (ERG). Here, we report the clinical...
7.
Goto K, Koyanagi Y, Akiyama M, Murakami Y, Fukushima M, Fujiwara K, et al.
J Med Genet
. 2024 Mar;
61(7):613-620.
PMID: 38499336
Background: As gene-specific therapy for inherited retinal dystrophy (IRD) advances, unified variant interpretation across institutes is becoming increasingly important. This study aims to update the genetic findings of 86 retinitis...
8.
Mizobuchi K, Hayashi T, Tanaka K, Kuniyoshi K, Murakami Y, Nakamura N, et al.
Am J Ophthalmol
. 2024 Mar;
264:36-43.
PMID: 38499139
Purpose: To clarify the genetic and clinical features of Japanese patients with ABCA4-associated retinopathy. Design: Retrospective, multicenter cohort study. Methods: Patients with retinal degeneration and biallelic ABCA4 variants were recruited...
9.
Sugawara K, Ito R, Horiguchi H, Mizobuchi K, Katagiri S, Gunji H, et al.
Int J Ophthalmol
. 2023 Dec;
16(12):2004-2010.
PMID: 38111926
Aim: To compare the surgical outcomes of a multifocal intraocular lens (IOL; Lentis Comfort LS-313 MF15) with those of an enhanced monofocal IOL (Tecnis Eyhance DIB00V). Methods: This retrospective study...
10.
Nakajima A, Kuniyoshi K, Iwahashi C, Mano F, Hayashi T, Kondo H, et al.
Front Med (Lausanne)
. 2023 Nov;
10:1280564.
PMID: 38034549
Introduction: Congenital X-linked retinoschisis (XLRS) presents as macular retinoschisis/degeneration in almost all patients and as peripheral retinoschisis in half the patients. Although the optical coherence tomography (OCT) findings of macular...