PMID- 25324290
OWN - NLM
STAT- MEDLINE
DCOM- 20150127
LR  - 20240109
IS  - 1552-5783 (Electronic)
IS  - 0146-0404 (Linking)
VI  - 55
IP  - 11
DP  - 2014 Oct 16
TI  - Foveal sparing in Stargardt disease.
PG  - 7467-78
LID - 10.1167/iovs.13-13825 [doi]
AB  - PURPOSE: To provide a clinical and genetic description of a patient cohort with 
      Stargardt disease (STGD1) with identifiable foveal sparing. METHODS: Patients 
      with retinal atrophy (defined as an absence of autofluorescence) that surrounded 
      the fovea by at least 180 degrees  and did not include the fovea were defined as having 
      foveal sparing; eyes with visual acuity (VA) worse than 20/200 were excluded. We 
      reviewed the medical files and extracted data regarding medical history, VA, 
      ophthalmoscopy, static perimetry, fundus photography, spectral-domain optical 
      coherence tomography (SD-OCT), fluorescein angiography (FA), fundus 
      autofluorescence (FAF), and electroretinography (ERG). We screened each patient's 
      ABCA4 gene for mutations. RESULTS: Seventeen eyes with foveal sparing were 
      identified in 13 unrelated patients. In 4 eyes, the fovea gradually became 
      atrophic after the initial foveal sparing. The mean age at onset was 51 years 
      (range, 32-67 years). Visual acuity was 20/40 or better in all foveal sparing 
      eyes and was 20/25 or better in 41%. Fundus autofluorescence imaging revealed 
      hyperautofluorescent flecks and parafoveal retinal atrophy; SD-OCT revealed 
      sharply delineated atrophy; and perimetry revealed parafoveal scotomas with 
      intact foveal sensitivity. Finally, genetic screening identified mutations in 19 
      of the 26 ABCA4 gene alleles. CONCLUSIONS: Foveal sparing occurs mainly in 
      patients with late-onset STGD1 and represents the milder end of the clinical 
      spectrum in STGD1. The anatomy, metabolism, and biochemistry of the retina, as 
      well as genetic variations in genes other than ABCA4, can influence the etiology 
      of foveal sparing. Identifying these fovea-protecting factors will facilitate the 
      future development of strategies designed to treat STGD1.
CI  - Copyright 2014 The Association for Research in Vision and Ophthalmology, Inc.
FAU - van Huet, Ramon A C
AU  - van Huet RA
AD  - Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The 
      Netherlands.
FAU - Bax, Nathalie M
AU  - Bax NM
AD  - Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The 
      Netherlands.
FAU - Westeneng-Van Haaften, Sarah C
AU  - Westeneng-Van Haaften SC
AD  - Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The 
      Netherlands.
FAU - Muhamad, Muhamad
AU  - Muhamad M
AD  - Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The 
      Netherlands.
FAU - Zonneveld-Vrieling, Marijke N
AU  - Zonneveld-Vrieling MN
AD  - Department of Human Genetics, Radboud University Medical Center, Nijmegen, The 
      Netherlands.
FAU - Hoefsloot, Lies H
AU  - Hoefsloot LH
AD  - Department of Human Genetics, Radboud University Medical Center, Nijmegen, The 
      Netherlands.
FAU - Cremers, Frans P M
AU  - Cremers FP
AD  - Department of Human Genetics, Radboud University Medical Center, Nijmegen, The 
      Netherlands Nijmegen Center of Molecular Life Sciences, Radboud University 
      Medical Center, Nijmegen, The Netherlands.
FAU - Boon, Camiel J F
AU  - Boon CJ
AD  - Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The 
      Netherlands Department of Ophthalmology, Leiden University Medical Center, 
      Leiden, The Netherlands.
FAU - Klevering, B Jeroen
AU  - Klevering BJ
AD  - Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The 
      Netherlands.
FAU - Hoyng, Carel B
AU  - Hoyng CB
AD  - Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The 
      Netherlands.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20141016
PL  - United States
TA  - Invest Ophthalmol Vis Sci
JT  - Investigative ophthalmology & visual science
JID - 7703701
RN  - 0 (ABCA4 protein, human)
RN  - 0 (ATP-Binding Cassette Transporters)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - ATP-Binding Cassette Transporters/*genetics/metabolism
MH  - Adult
MH  - Aged
MH  - DNA/*genetics
MH  - DNA Mutational Analysis
MH  - Electroretinography
MH  - Female
MH  - Fluorescein Angiography
MH  - Fovea Centralis/metabolism/*pathology
MH  - Fundus Oculi
MH  - Humans
MH  - Macular Degeneration/diagnosis/genetics/metabolism
MH  - Male
MH  - Middle Aged
MH  - *Mutation
MH  - Ophthalmoscopy
MH  - Retinal Pigment Epithelium/metabolism/*pathology
MH  - Rod Cell Outer Segment
MH  - Stargardt Disease
MH  - Tomography, Optical Coherence
MH  - Visual Acuity
OTO - NOTNLM
OT  - ABCA4
OT  - Stargardt disease
OT  - foveal sparing
EDAT- 2014/10/18 06:00
MHDA- 2015/01/28 06:00
CRDT- 2014/10/18 06:00
PHST- 2014/10/18 06:00 [entrez]
PHST- 2014/10/18 06:00 [pubmed]
PHST- 2015/01/28 06:00 [medline]
AID - iovs.13-13825 [pii]
AID - 10.1167/iovs.13-13825 [doi]
PST - epublish
SO  - Invest Ophthalmol Vis Sci. 2014 Oct 16;55(11):7467-78. doi: 
      10.1167/iovs.13-13825.