PMID- 28283280
OWN - NLM
STAT- MEDLINE
DCOM- 20170717
LR  - 20180518
IS  - 1549-4713 (Electronic)
IS  - 0161-6420 (Linking)
VI  - 124
IP  - 6
DP  - 2017 Jun
TI  - Foveal Hypoplasia in Patients with Stickler Syndrome.
PG  - 896-902
LID - S0161-6420(16)32453-8 [pii]
LID - 10.1016/j.ophtha.2017.01.046 [doi]
AB  - PURPOSE: To determine the microstructure of the fovea in patients with Stickler 
      syndrome using imaging by spectral-domain optical coherence tomography (SD OCT) 
      and swept-source OCT. DESIGN: Retrospective case series study. PARTICIPANTS: A 
      total of 39 eyes of 25 patients with genetically confirmed Stickler syndrome were 
      studied. METHODS: All of the patients had mutations in the COL2A1 gene and were 
      diagnosed with Stickler syndrome. Cross-sectional OCT images, OCT angiography 
      (OCTA), and en face OCT images were assessed. The ratio of the foveal inner 
      retinal layer (fIRL) thickness to the parafoveal inner retinal layer (pIRL) 
      thickness, the ratio of the foveal outer retinal layer (fORL) thickness to the 
      parafoveal outer retinal layer (pORL) thickness, and the size of the foveal 
      avascular zone (FAZ) were determined. MAIN OUTCOME MEASURES: The degree of foveal 
      hypoplasia and the best-corrected visual acuity in patients with Stickler 
      syndrome. RESULTS: A persistence of the inner retinal layers in the fovea with an 
      fIRL/pIRL ratio >0.2 was present in 32 of the 39 eyes (82%). Optical coherence 
      tomography angiography showed that the FAZ was smaller, 0 to 0.19 mm(2), than 
      that of normal eyes, in 25 eyes of 17 patients who underwent OCTA. There was no 
      significant correlation between the visual acuities and the fIRL/pIRL ratios. 
      CONCLUSIONS: A mild foveal hypoplasia with a persistence of the IRL is 
      characteristic of eyes with Stickler syndrome. The visual acuities were not 
      correlated with the fIRL/pIRL ratios.
CI  - Copyright (c) 2017 American Academy of Ophthalmology. Published by Elsevier Inc. 
      All rights reserved.
FAU - Matsushita, Itsuka
AU  - Matsushita I
AD  - Department of Ophthalmology, University of Occupational and Environmental Health, 
      Kitakyushu, Japan.
FAU - Nagata, Tatsuo
AU  - Nagata T
AD  - Department of Ophthalmology, University of Occupational and Environmental Health, 
      Kitakyushu, Japan.
FAU - Hayashi, Takaaki
AU  - Hayashi T
AD  - Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, 
      Japan.
FAU - Kimoto, Kenichi
AU  - Kimoto K
AD  - Department of Ophthalmology, Oita University, Oita, Japan.
FAU - Kubota, Toshiaki
AU  - Kubota T
AD  - Department of Ophthalmology, Oita University, Oita, Japan.
FAU - Ohji, Masahito
AU  - Ohji M
AD  - Department of Ophthalmology, Shiga University of Medical Science, Shiga, Japan.
FAU - Kusaka, Shunji
AU  - Kusaka S
AD  - Department of Ophthalmology, Kindai University Sakai Hospital, Osaka, Japan.
FAU - Kondo, Hiroyuki
AU  - Kondo H
AD  - Department of Ophthalmology, University of Occupational and Environmental Health, 
      Kitakyushu, Japan. Electronic address: kondohi@med.uoeh-u.ac.jp.
LA  - eng
PT  - Journal Article
PT  - Multicenter Study
PT  - Research Support, Non-U.S. Gov't
DEP - 20170307
PL  - United States
TA  - Ophthalmology
JT  - Ophthalmology
JID - 7802443
RN  - 0 (COL2A1 protein, human)
RN  - 0 (Collagen Type II)
RN  - Stickler syndrome, type 1
SB  - IM
EIN - Ophthalmology. 2018 May;125(5):786. PMID: 29681301
MH  - Adolescent
MH  - Adult
MH  - Arthritis/*diagnosis/genetics/physiopathology
MH  - Child
MH  - Child, Preschool
MH  - Collagen Type II/genetics
MH  - Connective Tissue Diseases/*diagnosis/genetics/physiopathology
MH  - Cross-Sectional Studies
MH  - Eye Abnormalities/diagnostic imaging/*pathology
MH  - Female
MH  - Fluorescein Angiography
MH  - Fovea Centralis/*abnormalities/diagnostic imaging
MH  - Hearing Loss, Sensorineural/*diagnosis/genetics/physiopathology
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Mutation
MH  - Retinal Detachment/*diagnosis/genetics/physiopathology
MH  - Retrospective Studies
MH  - Tomography, Optical Coherence
MH  - Visual Acuity/physiology
MH  - Young Adult
EDAT- 2017/03/12 06:00
MHDA- 2017/07/18 06:00
CRDT- 2017/03/12 06:00
PHST- 2016/12/22 00:00 [received]
PHST- 2017/01/27 00:00 [revised]
PHST- 2017/01/27 00:00 [accepted]
PHST- 2017/03/12 06:00 [pubmed]
PHST- 2017/07/18 06:00 [medline]
PHST- 2017/03/12 06:00 [entrez]
AID - S0161-6420(16)32453-8 [pii]
AID - 10.1016/j.ophtha.2017.01.046 [doi]
PST - ppublish
SO  - Ophthalmology. 2017 Jun;124(6):896-902. doi: 10.1016/j.ophtha.2017.01.046. Epub 
      2017 Mar 7.