Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan

OCT-angiography assessing quiescent and active choroidal neovascularization in retinitis pigmentosa associated with PRPH2 pathogenic variant

(2021) Yousra Falfoul et al.   EUROPEAN JOURNAL OF OPHTHALMOLOGY

Impairments of Photoreceptor Outer Segments Renewal and Phototransduction Due to a Peripherin Rare Haplotype Variant: Insights from Molecular Modeling

(2021) Luigi Donato et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease

(2021) Manon H. C. A Peeters et al.   HUMAN MUTATION

Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom

(2020) Nikolas Pontikos et al.   OPHTHALMOLOGY

Genotype–phenotype associations in a large PRPH2 ‐related retinopathy cohort

(2020) Melissa J. Reeves et al.   HUMAN MUTATION

Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association

(2020) Yu Fujinami-Yokokawa et al.   Scientific Reports

PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation

(2020) Rosa M. Coco-Martin et al.   Genes

Clinical and genetic characteristics of 10 Japanese patients with PROM1 ‐associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population

(2020) Kaoru Fujinami et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

The new landscape of retinal gene therapy

(2020) Cristy A. Ku et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening

(2020) Shogo Numa et al.   Scientific Reports

Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy

(2019) Jasdeep S Gill et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Genetic and clinical findings in a large cohort of Chinese patients with suspected retinitis pigmentosa

(2019) Feng-Juan Gao et al.   OPHTHALMOLOGY

Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients

(2019) Yoshito Koyanagi et al.   JOURNAL OF MEDICAL GENETICS

PRPH2 mutation as the cause of various clinical manifestations in a family affected with inherited retinal dystrophy

(2019) Narsis Daftarian et al.   OPHTHALMIC GENETICS

Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population

(2018) Akiko Maeda et al.   JAPANESE JOURNAL OF OPHTHALMOLOGY

Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly)

(2018) Satoshi Katagiri et al.   OPHTHALMIC GENETICS

Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy

(2018) Johannes Birtel et al.   Scientific Reports

Long-term efficacy and safety of anti-VEGF therapy in retinitis pigmentosa: a case report

(2018) Manabu Miyata et al.   BMC Ophthalmology

Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa

(2017) Shannon M. Conley et al.   HUMAN MOLECULAR GENETICS

Unravelling the genetics of inherited retinal dystrophies: Past, present and future

(2017) Suzanne Broadgate et al.   PROGRESS IN RETINAL AND EYE RESEARCH

PRPH2/RDS and ROM-1: Historical context, current views and future considerations

(2016) Michael W. Stuck et al.   PROGRESS IN RETINAL AND EYE RESEARCH

High-Resolution Adaptive Optics Retinal Image Analysis at Early Stage Central Areolar Choroidal Dystrophy With PRPH2 Mutation

(2016) Kiyoko Gocho et al.   Ophthalmic Surgery Lasers & Imaging Retina

High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features

(2015) Gaël Manes et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa

(2015) Chang-Ki Yoon et al.   BMC GENOMICS

Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation

(2015) Arif O Khan et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies

(2015) Suma P. Shankar et al.   JAMA Ophthalmology

ISCEV Standard for full-field clinical electroretinography (2015 update)

(2014) Daphne L. McCulloch et al.   DOCUMENTA OPHTHALMOLOGICA

Causes and consequences of inherited cone disorders

(2014) Susanne Roosing et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Gene Therapy for PRPH2-Associated Ocular Disease: Challenges and Prospects

(2014) S. M. Conley et al.   Cold Spring Harbor Perspectives in Medicine

ISCEV Standard for full-field clinical electroretinography (2008 update)

(2008) M. F. Marmor et al.   DOCUMENTA OPHTHALMOLOGICA

Resolving the clinical acuity categories “hand motion” and “counting fingers” using the Freiburg Visual Acuity Test (FrACT)

(2008) C. Lange et al.   GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene

(2008) Camiel J.F. Boon et al.   PROGRESS IN RETINAL AND EYE RESEARCH