PMID- 31908405
OWN - NLM
STAT- MEDLINE
DCOM- 20200619
LR  - 20200619
IS  - 1090-0535 (Electronic)
IS  - 1090-0535 (Linking)
VI  - 25
DP  - 2019
TI  - Sector retinitis pigmentosa: Report of ten cases and a review of the literature.
PG  - 869-889
AB  - PURPOSE: To describe the genotypes and phenotypes of ten patients with sector 
      retinitis pigmentosa (RP). We also review previously reported mutations 
      associated with sector RP and provide a discussion of possible underlying 
      pathophysiological mechanisms. METHODS: Patients underwent detailed 
      ophthalmologic examinations, fundus photography, fundus autofluorescence (FAF) 
      imaging, spectral-domain optical coherence tomography (SD-OCT), as well as visual 
      field and electroretinographic testing. All patients underwent genetic testing to 
      identify the molecular etiology of their disease. RESULTS: A total of ten 
      patients were studied. Among these patients, nine had mutations in RHO (c.677T>C; 
      p.Leu226Pro (novel), c.68C>A; p.Pro23His, c.808A>C; p.Ser270Arg, c.44A>G; 
      p.Asn15Ser, and c.325G>A; p.Gly109Arg), and one patient had a mutation in RPGR 
      (c.3092_3093delAG; p.Glu1031Glyfs*47). All patients with missense mutations in 
      RHO had visual acuities (VAs) better than 20/30 and showed a retained foveal 
      ellipsoid zone and overlying retinal structures. The patient with the 
      c.3092_3093delAG deletion in RPGR had VA of 20/60 oculus dexter (OD) and 20/400 
      oculus sinister (OS), as well as significant foveal thinning and contour atrophy. 
      All patients showed pigmentary changes, or marked atrophy along the inferior 
      arcades, or both. This pattern of degeneration corresponded to hypo- and hyperFAF 
      and superior visual defects. CONCLUSIONS: Sector RP is an uncommon form of RP in 
      which only one or two retinal quadrants display clinical pathological signs. The 
      great majority of cases result from mutations in RHO. The present data confirmed 
      previously reported phenotypic manifestations of sector RP. Inferior retinal 
      quadrants are possibly more severely affected due to greater light exposure.
CI  - Copyright (c) 2019 Molecular Vision.
FAU - Coussa, Razek Georges
AU  - Coussa RG
AD  - Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic, Cleveland, 
      OH.
FAU - Basali, Diana
AU  - Basali D
AD  - Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic, Cleveland, 
      OH.
FAU - Maeda, Akiko
AU  - Maeda A
AD  - Department of Ophthalmology & Visual Sciences, Case Western Reserve University 
      School of Medicine, Cleveland, OH.
FAU - DeBenedictis, Meghan
AU  - DeBenedictis M
AD  - Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic, Cleveland, 
      OH.
FAU - Traboulsi, Elias I
AU  - Traboulsi EI
AD  - Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic, Cleveland, 
      OH.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
DEP - 20191230
PL  - United States
TA  - Mol Vis
JT  - Molecular vision
JID - 9605351
RN  - 9009-81-8 (Rhodopsin)
SB  - IM
MH  - Amino Acid Sequence
MH  - Animals
MH  - Humans
MH  - Mutation/genetics
MH  - Phenotype
MH  - Retinitis Pigmentosa/diagnosis/diagnostic imaging/*genetics/physiopathology
MH  - Rhodopsin/chemistry/genetics
MH  - Visual Fields
PMC - PMC6937219
EDAT- 2020/01/08 06:00
MHDA- 2020/06/20 06:00
PMCR- 2019/01/01
CRDT- 2020/01/08 06:00
PHST- 2019/04/06 00:00 [received]
PHST- 2019/12/28 00:00 [accepted]
PHST- 2020/01/08 06:00 [entrez]
PHST- 2020/01/08 06:00 [pubmed]
PHST- 2020/06/20 06:00 [medline]
PHST- 2019/01/01 00:00 [pmc-release]
AID - 80 [pii]
PST - epublish
SO  - Mol Vis. 2019 Dec 30;25:869-889. eCollection 2019.