Research Activities

Our clinic covers almost all ophthalmic diseases including cornea, cataract, glaucoma, medical & surgical retina, strabismus and pediatric ophthalmology. Top-level medical care in the world is provided in Pediatric Ophthalmology and Strabismus Service in our clinic.
Also, we investigate genetics of severe and hardly treatable diseases including retinal degeneration and advanced glaucoma collaborating with the other departments in Hamamatsu University, School of Medicine and the other ophthalmic departments in Japan.

Genetic research
Inherited retinal dystrophies (IRDs) are genetically and clinically heterogeneous disorders. Over 300 IRDs-associated genes have been identified to date. Leber congenital amaurosis (LCA) is a form of retinitis pigmentosa that has the earliest onset and is the most severe form of the IRDs. Although gene therapies recently represent a promising treatment option for LCA patients, their application requires the accurate and effective molecular identification of eligible patients and the development of comprehensive variant screening methods for LCA patients are urgently required. Thus, our laboratory has been performed a comprehensive molecular diagnosis of the Japanese IRDs including LCA by using the whole exome or whole genome sequencing.

Pediatric Ophthalmology and strabismus
We are performing high quality clinical research including diagnostic imaging and function tests on pediatric ophthalmology and strabismus. We are dealing special forms of strabismus such as superior oblique palsy, severe cyclotropia, strabismus associated CPEO (chronic progressive external ophthalmoplegia), acquired acute esotropia in young people and strabismus re-operations. We use MRI, anterior segment OCT, and intraocular pressure measurement to improve diagnosis and treatment success. We are conducting new device of electroretinogram to improve special forms of retinal diseases in children.

Komori M, Suzuki H, Iimori H, Hikoya A, Hotta Y, Sato M. Two cases of
acquired bilateral trochlea nerve palsy treated by simultaneous inferior rectus
muscle nasal transposition and inferior oblique muscle myectomy. Am J Ophthalmol
Case Rep. 21(2021)101011

Inagaki R, Suzuki H, Haseoka T, Arai S, Takagi Y, Hikoya A, Komori M, Hotta
Y, Sato M. Effects of the Gaze Fixation Position on AS-OCT Measurements of the
Limbus and Extraocular Muscle Insertion Site Distance. J Pediatr Ophthalmol
Strabismus. 2021 Jan 1;58(1):28-33.

Haseoka T, Inagaki R, Kurata K, Arai S, Takagi Y, Suzuki H, Hikoya A,
Nishimura K, Hotta Y, Sato M. Usefulness of handheld electroretinogram system
for diagnosing blue-cone monochromatism in children. Jpn J Ophthalmol. 2021

Haque MN, Ohtsubo M, Nishina S, Nakao S, Yoshida K, Hosono K, Kurata K,
Ohishi K, Fukami M, Sato M, Hotta Y, Azuma N, Minoshima S. Analysis of
IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with
retinopathy: fine genomic assay of a rare male case with mosaicism. J Hum Genet.
2021 Feb;66(2):205-214.

Muraki R, Morita Y, Ida S, Kitajima R, Furuhashi S, Kiuchi R, Takeda M,
Kikuchi H, Hiramatsu Y, Sakaguchi T, Kasuya A, Hotta Y, Takeuchi H. Multimodal
therapy with surgery and adjuvant nivolumab for late-onset multiple liver
metastases of choroidal malignant melanoma: a case report. Surg Case Rep. 2020
Jul 31;6(1):187.

Yamazaki H, Nakamura T, Hosono K, Yamaguchi T, Hiratsuka Y, Hotta Y,
Takahashi M. Sensorineural hearing loss and hypoplastic cochlea in Axenfeld-
Rieger syndrome with FOXC1 mutation. Auris Nasus Larynx. 2020 Jul
30:S0385-8146(20)30164-4.. Epub ahead of print.

Hosono K, Kawase K, Kurata K, Niimi Y, Saitsu H, Minoshima S, Ohnishi H,
Yamamoto T, Hikoya A, Tachibana N, Fukao T, Yamamoto T, Hotta Y. A case of
childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy
18p11 due to an unbalanced translocation. Ophthalmic Genet. 2020

Hayashi T, Hosono K, Kubo A, Kurata K, Katagiri S, Mizobuchi K, Kurai M,
Mamiya N, Kondo M, Tachibana T, Saitsu H, Ogata T, Nakano T, Hotta Y. Long-term
observation of a Japanese mucolipidosis IV patient with a novel homozygous
p.F313del variant of MCOLN1. Am J Med Genet A. 2020 Jun;182(6):1500-1505.

Katagiri S, Hosono K, Hayashi T, Murai N, Wake E, Miyata I, Mizobuchi K,
Kurata K, Matsuura T, Nakano T, Hotta Y. Novel biallelic splice-site BBS1
variants in Bardet-Biedle syndrome: a case report of the first Japanese patient.
Doc Ophthalmol. 2020 Aug;141(1):77-88.

Hayashi T, Hosono K, Kurata K, Katagiri S, Mizobuchi K, Ueno S, Kondo M,
Nakano T, Hotta Y. Coexistence of GNAT1 and ABCA4 variants associated with
Nougaret-type congenital stationary night blindness and childhood-onset cone-rod
dystrophy. Doc Ophthalmol. 2020 Apr;140(2):147-157.

Miyamichi D, Nishina S, Hosono K, Yokoi T, Kurata K, Sato M, Hotta Y, Azuma
N. Retinal structure in Leber’s congenital amaurosis caused by RPGRIP1
mutations. Hum Genome Var. 2019 Jun 27;6:32.

Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, Inai
C, Iwasaki Y, Kumano M, Murakami Y, Omodaka K, Abe T, Komori S, Gao D, Hirakata
T, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa
T, Ishibashi T, Ikeda Y, Kubo M, Sonoda KH. Genetic characteristics of retinitis
pigmentosa in 1204 Japanese patients. J Med Genet. 2019 Oct;56(10):662-670.

Nishiguchi KM, Ikeda Y, Fujita K, Kunikata H, Akiho M, Hashimoto K, Hosono
K, Kurata K, Koyanagi Y, Akiyama M, Suzuki T, Kawasaki R, Wada Y, Hotta Y,
Sonoda KH, Murakami A, Nakazawa M, Nakazawa T, Abe T. Phenotypic Features of
Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A
Long-Term Follow-up Study. Ophthalmology. 2019 Nov;126(11):1557-1566.

Haque MN, Kurata K, Hosono K, Ohtsubo M, Ohishi K, Sato M, Minoshima S,
Hotta Y. A Japanese family with cone-rod dystrophy of delayed onset caused by a
compound heterozygous combination of novel CDHR1 frameshift and known
missense variants. Hum Genome Var. 2019 Apr 12;6:18.

Kurata K, Hosono K, Hayashi T, Mizobuchi K, Katagiri S, Miyamichi D, Nishina
S, Sato M, Azuma N, Nakano T, Hotta Y. X-linked Retinitis Pigmentosa in Japan:
Clinical and Genetic Findings in Male Patients and Female Carriers. Int J Mol
Sci. 2019 Mar 26;20(6):1518.

Wakayama A, Nishina S, Miki A, Utsumi T, Sugasawa J, Hayashi T, Sato M,
Kimura A, Fujikado T. Incidence of side effects of topical atropine sulfate and
cyclopentolate hydrochloride for cycloplegia in Japanese children: a multicenter
study. Jpn J Ophthalmol. 2018 Sep;62(5):531-536.

Yokoi T, Katagiri S, Hiraoka M, Nakayama Y, Hosono K, Hotta Y, Nishina S,
PROLIFERATION IN THE OPTIC DISK REGION. Retina. 2018 Aug;38(8):1605-1612.

Katagiri S, Iwasa M, Hayashi T, Hosono K, Yamashita T, Kuniyoshi K, Ueno S,
Kondo M, Ueyama H, Ogita H, Shichida Y, Inagaki H, Kurahashi H, Kondo H, Ohji M,
Hotta Y, Nakano T. Genotype determination of the OPN1LW/OPN1MW genes: novel
disease-causing mechanisms in Japanese patients with blue cone monochromacy. Sci
Rep. 2018 Jul 31;8(1):11507.

Kurata K, Hosono K, Hotta Y. Clinical and genetic findings of a Japanese
patient with RP1-related autosomal recessive retinitis pigmentosa. Doc
Ophthalmol. 2018 Aug;137(1):47-56.

Suzuki H, Hikoya A, Komori M, Inagaki R, Haseoka T, Arai S, Takagi Y, Hotta
Y, Sato M. Changes in conjunctival-scleral thickness after strabismus surgery
measured with anterior segment optical coherence tomography. Jpn J Ophthalmol.
2018 Sep;62(5):554-559.

Hosono K, Nishina S, Yokoi T, Katagiri S, Saitsu H, Kurata K, Miyamichi D,
Hikoya A, Mizobuchi K, Nakano T, Minoshima S, Fukami M, Kondo H, Sato M, Hayashi
T, Azuma N, Hotta Y. Molecular Diagnosis of 34 Japanese Families with Leber
Congenital Amaurosis Using Targeted Next Generation Sequencing. Sci Rep. 2018
May 29;8(1):8279.

Kurata K, Hosono K, Hikoya A, Kato A, Saitsu H, Minoshima S, Ogata T, Hotta
Y. Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome
caused by BBS10 mutations. Jpn J Ophthalmol. 2018 Jul;62(4):458-466.

Katagiri S, Hosono K, Hayashi T, Kurata K, Mizobuchi K, Matsuura T,
Yoshitake K, Iwata T, Nakano T, Hotta Y. Early onset flecked retinal dystrophy
associated with new compound heterozygous RPE65 variants. Mol Vis. 2018
Apr 9;24:286-296.

Kurata K, Hosono K, Hotta Y. Long-term clinical course of 2 Japanese
patients with PRPF31-related retinitis pigmentosa. Jpn J Ophthalmol. 2018

Nagase Y, Kurata K, Hosono K, Suto K, Hikoya A, Nakanishi H, Mizuta K,
Mineta H, Minoshima S, Hotta Y. Visual Outcomes in Japanese Patients with
Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations. Semin
Ophthalmol. 2018;33(4):560-565.

Nishikawa N, Ito H, Kawaguchi Y, Sato M, Yoshida A. Resection and anterior
transposition of the inferior oblique muscle for treatment of inferior rectus
muscle hypoplasia with esotropia. Am J Ophthalmol Case Rep. 2017 Jun 13;7:70-73.

Kurata K, Hosono K, Hotta Y. Long-Term Clinical Course in a Patient with
Complete Congenital Stationary Night Blindness. Case Rep Ophthalmol. 2017 Apr

Sato M. Historical review of inferior oblique muscle surgery. Taiwan J
Ophthalmol. 2017 Jan-Mar;7(1):12-14.

Komori M, Suzuki H, Hikoya A, Sawada M, Hotta Y, Sato M. Evaluation of
Surgical Strategy Based on the Intraoperative Superior Oblique Tendon Traction
Test. PLoS One. 2016 Dec 16;11(12):e0168245.

Wang C, Hosono K, Kachi S, Suto K, Nakamura M, Terasaki H, Miyake Y, Hotta
Y, Minoshima S. Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families
with blue cone monochromacy. Hum Genome Var. 2016 May 26;3:16011.

Miyamichi D, Asahina M, Nakajima J, Sato M, Hosono K, Nomura T, Negishi T,
Miyake N, Hotta Y, Ogata T, Matsumoto N. Novel HPS6 mutations identified by
whole-exome sequencing in two Japanese sisters with suspected ocular albinism. J
Hum Genet. 2016 Sep;61(9):839-42.

Nagamoto T, Oshika T, Fujikado T, Ishibashi T, Sato M, Kondo M, Kurosaka D,
Azuma N. Surgical outcomes of congenital and developmental cataracts in Japan.
Jpn J Ophthalmol. 2016 May;60(3):127-34.

Yokoi T, Nishina S, Fukami M, Ogata T, Hosono K, Hotta Y, Azuma N. Genotype-
phenotype correlation of PAX6 gene mutations in aniridia. Hum Genome Var. 2016
Feb 11;3:15052.