PMID- 36609934
OWN - NLM
STAT- MEDLINE
DCOM- 20230612
LR  - 20231116
IS  - 1573-2622 (Electronic)
IS  - 0012-4486 (Linking)
VI  - 146
IP  - 3
DP  - 2023 Jun
TI  - Phenotypic variability in PRPH2 as demonstrated by a family with incomplete 
      penetrance of autosomal dominant cone-rod dystrophy.
PG  - 267-272
LID - 10.1007/s10633-022-09916-5 [doi]
AB  - INTRODUCTION: Mutations in the peripherin-2 gene (PRPH2) are a common cause of 
      inherited retinal dystrophies well known for their phenotypic diversity. We 
      describe a novel presentation of the c.623G > A; p.(Gly208Asp) variant in 
      association with cone-rod dystrophy and reduced penetrance. CASE DESCRIPTION: A 
      39-year-old man presents with a history of decreased visual acuity, photophobia, 
      and dyschromatopsia. Fundus examination was largely unremarkable while 
      spectral-domain optical coherence tomography (SD-OCT) demonstrated diffuse 
      granularity at the ellipsoid zone. Full-field electroretinogram (ffERG) revealed 
      a cone-rod dystrophy. Genetic testing revealed a heterozygous pathogenic variant, 
      c.623G > A; p.(Gly208Asp), in the PRPH2 gene, also found in an unaffected 
      brother. The 50-year-old brother had no visual symptoms and no findings on fundus 
      examination. SD-OCT showed normal retinal architecture and ffERG was within 
      normal limits bilaterally. CONCLUSION: This case report broadens the known 
      phenotypic presentations of PRPH2-associated retinopathy and suggests that the 
      PRPH2 variant c.623G > A; p.(Gly208Asp) may be associated with reduced 
      penetrance.
CI  - (c) 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, 
      part of Springer Nature.
FAU - Soucy, Megan
AU  - Soucy M
AD  - Department of Ophthalmology, Pathology and Cell Biology, Columbia University 
      Irving Medical Center, New York, NY, USA.
FAU - Kolesnikova, Masha
AU  - Kolesnikova M
AD  - Jonas Children's Vision Care and Bernard and Shirlee Brown Glaucoma Laboratory, 
      New York-Presbyterian Hospital, New York, NY, USA.
AD  - State University of New York at Downstate Medical Center, Brooklyn, NY, USA.
FAU - Kim, Angela H
AU  - Kim AH
AD  - Jonas Children's Vision Care and Bernard and Shirlee Brown Glaucoma Laboratory, 
      New York-Presbyterian Hospital, New York, NY, USA.
AD  - State University of New York at Downstate Medical Center, Brooklyn, NY, USA.
FAU - Tsang, Stephen H
AU  - Tsang SH
AUID- ORCID: 0000-0001-9082-2427
AD  - Department of Ophthalmology, Pathology and Cell Biology, Columbia University 
      Irving Medical Center, New York, NY, USA. sht2@cumc.columbia.edu.
AD  - Jonas Children's Vision Care and Bernard and Shirlee Brown Glaucoma Laboratory, 
      New York-Presbyterian Hospital, New York, NY, USA. sht2@cumc.columbia.edu.
AD  - Department of Ophthalmology, Pathology and Cell Biology, Columbia Stem Cell 
      Initiative, New York, NY, USA. sht2@cumc.columbia.edu.
AD  - Department of Ophthalmology, Pathology and Cell Biology, Edward Harkness Eye 
      Institute, Columbia University Medical Center, 635 West 165th Street, New York, 
      NY, 10032, USA. sht2@cumc.columbia.edu.
LA  - eng
GR  - U01 EY030580/EY/NEI NIH HHS/United States
GR  - U01 EY030580/EY/NEI NIH HHS/United States
GR  - TA-NMT-0116-0692-COLU/FFB/Foundation Fighting Blindness/United States
PT  - Case Reports
PT  - Journal Article
DEP - 20230107
PL  - Netherlands
TA  - Doc Ophthalmol
JT  - Documenta ophthalmologica. Advances in ophthalmology
JID - 0370667
SB  - IM
MH  - Male
MH  - Humans
MH  - Adult
MH  - Middle Aged
MH  - *Cone-Rod Dystrophies/diagnosis/genetics
MH  - Penetrance
MH  - Electroretinography
MH  - *Retinitis Pigmentosa/diagnosis/genetics
MH  - Mutation
MH  - Biological Variation, Population
MH  - Tomography, Optical Coherence
MH  - Phenotype
OTO - NOTNLM
OT  - Cone-rod dystrophy
OT  - Incomplete penetrance
OT  - Inherited retinal dystrophy
OT  - PRPH2
EDAT- 2023/01/08 06:00
MHDA- 2023/06/12 06:42
CRDT- 2023/01/07 17:03
PHST- 2022/05/25 00:00 [received]
PHST- 2022/12/14 00:00 [accepted]
PHST- 2023/06/12 06:42 [medline]
PHST- 2023/01/08 06:00 [pubmed]
PHST- 2023/01/07 17:03 [entrez]
AID - 10.1007/s10633-022-09916-5 [pii]
AID - 10.1007/s10633-022-09916-5 [doi]
PST - ppublish
SO  - Doc Ophthalmol. 2023 Jun;146(3):267-272. doi: 10.1007/s10633-022-09916-5. Epub 
      2023 Jan 7.