PMID- 30444160
OWN - NLM
STAT- MEDLINE
DCOM- 20190412
LR  - 20190412
IS  - 1744-5094 (Electronic)
IS  - 1381-6810 (Linking)
VI  - 39
IP  - 6
DP  - 2018 Dec
TI  - Clinical and imaging characteristics of posterior column ataxia with retinitis 
      pigmentosa with a specific FLVCR1 mutation.
PG  - 735-740
LID - 10.1080/13816810.2018.1547913 [doi]
AB  - BACKGROUND: Posterior column ataxia retinitis pigmentosa (PCARP) with feline 
      leukemia virus subgroup C cellular receptor 1 (FLVCR1) gene mutation is a rare 
      disorder with significant ophthalmic features. MATERIALS AND METHODS: We 
      conducted a retrospective case series study of patients diagnosed with PCARP and 
      genetic testing positive for FLVCR1 mutation between 1 January 2015 and 1 October 
      2017 at the Children's Hospital of Pittsburgh. Clinical charts, visual fields, 
      fundus autofluorescence, and spectral-domain optical coherence tomography 
      (SD-OCT) were reviewed. RESULTS: Seven patients from three families were 
      identified to have PCARP and FLVCR1 mutation. The median age at presentation was 
      13 years (range, 7-28 years). Common clinical exam findings were astigmatism, 
      cataracts, and vitreous syneresis. Funduscopy on all patients revealed bull's eye 
      maculopathy, retinal vessels attenuation, and bone spicule changes in the 
      peripheral retina. Fundus autofluorescence showed bilateral hyperautofluorescent 
      rings. SD-OCT demonstrated morphological changes, which differed based on age. 
      The youngest sibling family exhibited peripheral loss, but subfoveal preservation 
      of the outer retinal layers. These layers were lost in the oldest sibling family. 
      Visual fields loss paralleled SD-OCT findings. CONCLUSION: There is limited 
      published ophthalmic data on FLVCR1-related PCARP. We describe clinical and 
      retinal imaging features in the one of the largest cohorts of affected patients 
      in the literature. Given the availability of genetic testing for this phenotype, 
      testing for FLVCR1 mutations should be considered in pediatric and adult patients 
      with sensory ataxia and retinitis pigmentosa.
FAU - Lee, Jennifer
AU  - Lee J
AD  - a Department of Pediatric Ophthalmology, Strabismus, and Adult Motility , 
      Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center , 
      Pittsburgh , Pennsylvania , USA.
FAU - Scanga, Hannah L
AU  - Scanga HL
AD  - a Department of Pediatric Ophthalmology, Strabismus, and Adult Motility , 
      Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center , 
      Pittsburgh , Pennsylvania , USA.
FAU - Dansingani, Kunal K
AU  - Dansingani KK
AUID- ORCID: 0000-0002-7430-8601
AD  - b Department of Ophthalmology , University of Pittsburgh Medical Center , 
      Pittsburgh , Pennsylvania , USA.
FAU - Taubenslag, Kenneth J
AU  - Taubenslag KJ
AD  - a Department of Pediatric Ophthalmology, Strabismus, and Adult Motility , 
      Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center , 
      Pittsburgh , Pennsylvania , USA.
FAU - Zlotcavitch, Leonid
AU  - Zlotcavitch L
AD  - a Department of Pediatric Ophthalmology, Strabismus, and Adult Motility , 
      Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center , 
      Pittsburgh , Pennsylvania , USA.
FAU - Chauhan, Bharesh K
AU  - Chauhan BK
AD  - a Department of Pediatric Ophthalmology, Strabismus, and Adult Motility , 
      Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center , 
      Pittsburgh , Pennsylvania , USA.
AD  - b Department of Ophthalmology , University of Pittsburgh Medical Center , 
      Pittsburgh , Pennsylvania , USA.
FAU - Sylvester, Christin L
AU  - Sylvester CL
AD  - a Department of Pediatric Ophthalmology, Strabismus, and Adult Motility , 
      Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center , 
      Pittsburgh , Pennsylvania , USA.
FAU - Morton, D Holmes
AU  - Morton DH
AD  - c Pediatrician , Central Pennsylvania Clinic for Special Children and Adults , 
      Belleville , Pennsylvania , USA.
AD  - d Department of Pediatrics , Children's Hospital of Pittsburgh of University of 
      Pittsburgh Medical Center , Pittsburgh , Pennsylvania , USA.
FAU - Nischal, Ken K
AU  - Nischal KK
AD  - a Department of Pediatric Ophthalmology, Strabismus, and Adult Motility , 
      Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center , 
      Pittsburgh , Pennsylvania , USA.
LA  - eng
PT  - Journal Article
DEP - 20181116
PL  - England
TA  - Ophthalmic Genet
JT  - Ophthalmic genetics
JID - 9436057
RN  - 0 (FLVCR1 protein, human)
RN  - 0 (Membrane Transport Proteins)
RN  - 0 (Receptors, Virus)
RN  - Posterior column ataxia with retinitis pigmentosa
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Astigmatism/diagnosis/genetics
MH  - Ataxia/*diagnostic imaging/*genetics
MH  - Child
MH  - Female
MH  - Humans
MH  - Hyperopia/diagnosis/genetics
MH  - Male
MH  - Membrane Transport Proteins/*genetics
MH  - Molecular Biology
MH  - Multimodal Imaging
MH  - *Mutation
MH  - Myopia/diagnosis/genetics
MH  - Optical Imaging
MH  - Receptors, Virus/*genetics
MH  - Retinitis Pigmentosa/*diagnostic imaging/*genetics
MH  - Retrospective Studies
MH  - *Tomography, Optical Coherence
MH  - Visual Field Tests
MH  - Visual Fields/physiology
MH  - Young Adult
OTO - NOTNLM
OT  - Retinitis pigmentosa
OT  - ataxia
OT  - genetic mutation
OT  - optical coherence tomography
OT  - visual fields
EDAT- 2018/11/18 06:00
MHDA- 2019/04/13 06:00
CRDT- 2018/11/17 06:00
PHST- 2018/11/18 06:00 [pubmed]
PHST- 2019/04/13 06:00 [medline]
PHST- 2018/11/17 06:00 [entrez]
AID - 10.1080/13816810.2018.1547913 [doi]
PST - ppublish
SO  - Ophthalmic Genet. 2018 Dec;39(6):735-740. doi: 10.1080/13816810.2018.1547913. 
      Epub 2018 Nov 16.