PRPH2-Associated Retinopathy: Novel Variants and Genotype–Phenotype Correlations

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

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

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

Novel molecular mechanisms for Prph2‐associated pattern dystrophy

(2019) Dibyendu Chakraborty et al.   FASEB JOURNAL

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

(2019) Narsis Daftarian et al.   OPHTHALMIC GENETICS

Oligomerization of Prph2 and Rom1 is essential for photoreceptor outer segment formation

(2018) Rahel Zulliger et al.   HUMAN MOLECULAR GENETICS

QUANTITATIVE ANALYSIS OF OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY IN ADULT-ONSET FOVEOMACULAR VITELLIFORM DYSTROPHY

(2018) Maurizio Battaglia Parodi et al.   RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES

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

(2018) Johannes Birtel et al.   Scientific Reports

The K153Del PRPH2 mutation differentially impacts photoreceptor structure and function

(2016) Dibyendu Chakraborty et al.   HUMAN MOLECULAR GENETICS

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

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

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

Adult-onset foveomacular vitelliform dystrophy: A fresh perspective

(2015) Itay Chowers et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Phenotypic Variability and Long-term Follow-up of Patients With Known and Novel PRPH2/RDS Gene Mutations

(2008) Agnes B. Renner et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Differential requirements for retinal degeneration slow intermolecular disulfide-linked oligomerization in rods versus cones

(2008) Dibyendu Chakraborty et al.   HUMAN MOLECULAR GENETICS

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