Kunihiko Yamaki

Inzai, Japan

Last Updated: 09/26/2026

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Found 14 publications

Multimodal imaging analysis of macular dystrophy in patient with maternally inherited diabetes and deafness (MIDD) with m.3243A>G mutation.

Multimodal imaging analysis of macular dystrophy in patient with maternally inherited diabetes and deafness (MIDD) with m.3243A>G mutation.

Journal: Ophthalmic genetics

Published: February 05, 2021

High-resolution photoreceptor imaging analysis of patients with autosomal dominant retinitis pigmentosa (adRP) caused by HK1 mutation.

High-resolution photoreceptor imaging analysis of patients with autosomal dominant retinitis pigmentosa (adRP) caused by HK1 mutation.

Journal: Ophthalmic genetics

Published: August 21, 2020

Novel GUCY2D Variant (E843Q) at Mutation Hotspot Associated with Macular Dystrophy in a Japanese Patient.

Novel GUCY2D Variant (E843Q) at Mutation Hotspot Associated with Macular Dystrophy in a Japanese Patient.

Journal: Journal of Nippon Medical School = Nippon Ika Daigaku zasshi

Published: February 04, 2020

Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family.

Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family.

Journal: Ophthalmic genetics

Published: November 08, 2019

High-Resolution Retinal Imaging Reveals Preserved Cone Photoreceptor Density and Choroidal Thickness in Female Carriers of Choroideremia.

High-Resolution Retinal Imaging Reveals Preserved Cone Photoreceptor Density and Choroidal Thickness in Female Carriers of Choroideremia.

Journal: Ophthalmic surgery, lasers & imaging retina

Published: June 03, 2018

CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family.

CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family.

Journal: Ophthalmic genetics

Published: May 03, 2018

Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy.

Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy.

Journal: Investigative ophthalmology & visual science

Published: September 14, 2016

Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.

Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.

Journal: Documenta ophthalmologica. Advances in ophthalmology

Published: February 06, 2016

Detailed Morphological Changes of Foveoschisis in Patient with X-Linked Retinoschisis Detected by SD-OCT and Adaptive Optics Fundus Camera.

Detailed Morphological Changes of Foveoschisis in Patient with X-Linked Retinoschisis Detected by SD-OCT and Adaptive Optics Fundus Camera.

Journal: Case reports in ophthalmological medicine

Published: May 19, 2015

Multimodal imaging of a case of peripheral cone dystrophy.

Multimodal imaging of a case of peripheral cone dystrophy.

Journal: Documenta ophthalmologica. Advances in ophthalmology

Published: November 10, 2014

Cone dystrophy in patient with homozygous RP1L1 mutation.

Cone dystrophy in patient with homozygous RP1L1 mutation.

Journal: BioMed research international

Published: September 29, 2014

High-Resolution Imaging of Patients with Bietti Crystalline Dystrophy with CYP4V2 Mutation.

High-Resolution Imaging of Patients with Bietti Crystalline Dystrophy with CYP4V2 Mutation.

Journal: Journal of ophthalmology

Published: June 30, 2014

Showing 1-12 of 14

Last Updated: 09/26/2026