PMID- 32151571
OWN - NLM
STAT- MEDLINE
DCOM- 20210726
LR  - 20210726
IS  - 1528-3933 (Electronic)
IS  - 1091-8531 (Linking)
VI  - 24
IP  - 2
DP  - 2020 Apr
TI  - Nystagmus and optical coherence tomography findings in CNGB3-associated 
      achromatopsia.
PG  - 82.e1-82.e7
LID - S1091-8531(20)30050-1 [pii]
LID - 10.1016/j.jaapos.2019.11.013 [doi]
AB  - PURPOSE: To describe the nystagmus characteristics of subjects with molecularly 
      confirmed CNGB3-associated achromatopsia and report the spectral domain optical 
      coherence tomography (SD-OCT) findings in these individuals. METHODS: Adults and 
      children with CNGB3-achromatopsia underwent visual acuity testing, ocular 
      motility assessments, video nystagmography, and SD-OCT imaging. Qualitative 
      assessment of foveal structure was performed by grading SD-OCT images into one of 
      five categories. RESULTS: A total of 18 subjects (11 adults) were included. The 
      majority demonstrated a phoria, with manifest strabismus present in only 3 
      subjects. The predominant nystagmus waveform within the cohort was pure pendular. 
      Nine individuals demonstrated a mixture of waveforms. Nystagmus frequencies were 
      4-8 cycles/second, with no notable differences in eye movements between adults 
      and children. SD-OCT imaging revealed a continuous ellipsoid zone (EZ) at the 
      fovea in 2 subjects (grade 1) and EZ disruption (grade 2) in the remaining 16. 
      Retinal structure characteristics were symmetrical in both eyes in each subject. 
      CONCLUSIONS: In our study cohort, nystagmus in CNGB3-associated achromatopsia had 
      distinctive features, and the majority of subjects had retinal abnormalities at 
      the fovea on SD-OCT. Early use of SD-OCT in the clinical work-up may eliminate 
      the need for more invasive investigations, such as neuro-imaging.
CI  - Copyright (c) 2020. Published by Elsevier Inc.
FAU - Hirji, Nashila
AU  - Hirji N
AD  - UCL Institute of Ophthalmology, University College London, London, United 
      Kingdom; Moorfields Eye Hospital, London, United Kingdom.
FAU - Theodorou, Maria
AU  - Theodorou M
AD  - UCL Institute of Ophthalmology, University College London, London, United 
      Kingdom; Moorfields Eye Hospital, London, United Kingdom. Electronic address: 
      mtheodorou@nhs.net.
FAU - Bainbridge, James W
AU  - Bainbridge JW
AD  - UCL Institute of Ophthalmology, University College London, London, United 
      Kingdom; Moorfields Eye Hospital, London, United Kingdom.
FAU - Venturi, Nadia
AU  - Venturi N
AD  - Moorfields Eye Hospital, London, United Kingdom.
FAU - Michaelides, Michel
AU  - Michaelides M
AD  - UCL Institute of Ophthalmology, University College London, London, United 
      Kingdom; Moorfields Eye Hospital, London, United Kingdom.
LA  - eng
GR  - DH_/Department of Health/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20200307
PL  - United States
TA  - J AAPOS
JT  - Journal of AAPOS : the official publication of the American Association for 
      Pediatric Ophthalmology and Strabismus
JID - 9710011
RN  - 0 (CNGB3 protein, human)
RN  - 0 (Cyclic Nucleotide-Gated Cation Channels)
SB  - IM
MH  - Color Vision Defects
MH  - Cyclic Nucleotide-Gated Cation Channels/*genetics
MH  - Fovea Centralis
MH  - Humans
MH  - *Nystagmus, Pathologic/diagnostic imaging
MH  - Tomography, Optical Coherence
EDAT- 2020/03/11 06:00
MHDA- 2021/07/27 06:00
CRDT- 2020/03/11 06:00
PHST- 2019/08/01 00:00 [received]
PHST- 2019/11/13 00:00 [revised]
PHST- 2019/11/27 00:00 [accepted]
PHST- 2020/03/11 06:00 [pubmed]
PHST- 2021/07/27 06:00 [medline]
PHST- 2020/03/11 06:00 [entrez]
AID - S1091-8531(20)30050-1 [pii]
AID - 10.1016/j.jaapos.2019.11.013 [doi]
PST - ppublish
SO  - J AAPOS. 2020 Apr;24(2):82.e1-82.e7. doi: 10.1016/j.jaapos.2019.11.013. Epub 2020 
      Mar 7.