PMID- 30055151
OWN - NLM
STAT- MEDLINE
DCOM- 20190903
LR  - 20240109
IS  - 1879-1891 (Electronic)
IS  - 0002-9394 (Print)
IS  - 0002-9394 (Linking)
VI  - 195
DP  - 2018 Nov
TI  - Deep Scleral Exposure: A Degenerative Outcome of End-Stage Stargardt Disease.
PG  - 16-25
LID - S0002-9394(18)30399-4 [pii]
LID - 10.1016/j.ajo.2018.07.018 [doi]
AB  - PURPOSE: To describe a distinct phenotypic outcome of outer retinal degeneration 
      in a cohort of genetically confirmed patients with recessive Stargardt disease 
      (STGD1). DESIGN: Retrospective case series. METHODS: Twelve patients, who were 
      clinically diagnosed with STGD1 and exhibited a unique degenerative phenotype, 
      were included in the study. Two disease-causing mutations were found in all 
      patients by direct sequencing of the ABCA4 gene. Clinical characterization of 
      patients were defined on fundus photographs, autofluorescence images (488-nm and 
      532-nm excitation), spectral-domain optical coherence tomography (SD-OCT), and 
      full-field electroretinogram (ffERG) testing. RESULTS: Mean age at initial 
      presentation was 67.8 years and reported age of symptomatic onset was 14.1 years 
      (mean disease duration = 53.8 years). Best-corrected visual acuity ranged from 
      20/400 to hand motion. All patients exhibited advanced degeneration across the 
      posterior pole resulting in a reflectively pale, blonde fundus owing to 
      unobstructed exposure of the underlying sclera. SD-OCT revealed complete loss of 
      the outer retinal bands (external limiting membrane, ellipsoid zone, 
      interdigitation zone, and retinal pigment epithelium) and choroidal layers. 
      Scotopic and photopic waveforms on ffERG were nonrecordable or severely 
      attenuated in 8 patients who were tested. CONCLUSIONS: Widespread scleral 
      exposure is a clinical outcome in a subset of STGD1 following a long duration of 
      disease progression ( approximately 50 years). The blonde fundus in such cases may exhibit 
      phenotypic overlap and shared therapeutic implications with other aggressive 
      chorioretinal dystrophies such as end-stage choroideremia, gyrate atrophy, or 
      RPE65-Leber congenital amaurosis.
CI  - Copyright (c) 2018 Elsevier Inc. All rights reserved.
FAU - Lee, Winston
AU  - Lee W
AD  - Department of Ophthalmology, Columbia University, New York, New York, USA.
FAU - Zernant, Jana
AU  - Zernant J
AD  - Department of Ophthalmology, Columbia University, New York, New York, USA.
FAU - Nagasaki, Takayuki
AU  - Nagasaki T
AD  - Department of Ophthalmology, Columbia University, New York, New York, USA.
FAU - Tsang, Stephen H
AU  - Tsang SH
AD  - Department of Ophthalmology, Columbia University, New York, New York, USA.
FAU - Allikmets, Rando
AU  - Allikmets R
AD  - Department of Ophthalmology, Columbia University, New York, New York, USA; 
      Department of Pathology & Cell Biology, Columbia University, New York, New York, 
      USA. Electronic address: rla22@cumc.columbia.edu.
LA  - eng
GR  - P30 EY019007/EY/NEI NIH HHS/United States
GR  - R01 EY021163/EY/NEI NIH HHS/United States
GR  - R24 EY019861/EY/NEI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20180726
PL  - United States
TA  - Am J Ophthalmol
JT  - American journal of ophthalmology
JID - 0370500
RN  - 0 (ABCA4 protein, human)
RN  - 0 (ATP-Binding Cassette Transporters)
SB  - IM
MH  - ATP-Binding Cassette Transporters/genetics
MH  - Aged
MH  - Aged, 80 and over
MH  - Autogenic Training
MH  - Color Vision/physiology
MH  - Electroretinography
MH  - Female
MH  - Fluorescein Angiography/methods
MH  - High-Throughput Nucleotide Sequencing
MH  - Humans
MH  - Macular Degeneration/*congenital/diagnosis/genetics/physiopathology
MH  - Male
MH  - Middle Aged
MH  - Night Vision/physiology
MH  - Optical Imaging
MH  - Phenotype
MH  - Retina/physiopathology
MH  - Retinal Degeneration/*diagnosis/genetics/physiopathology
MH  - Retrospective Studies
MH  - Stargardt Disease
MH  - Tomography, Optical Coherence/methods
MH  - Visual Acuity/physiology
PMC - PMC6547128
MID - NIHMS1032318
EDAT- 2018/07/29 06:00
MHDA- 2019/09/04 06:00
PMCR- 2019/06/04
CRDT- 2018/07/29 06:00
PHST- 2018/01/23 00:00 [received]
PHST- 2018/07/16 00:00 [revised]
PHST- 2018/07/18 00:00 [accepted]
PHST- 2018/07/29 06:00 [pubmed]
PHST- 2019/09/04 06:00 [medline]
PHST- 2018/07/29 06:00 [entrez]
PHST- 2019/06/04 00:00 [pmc-release]
AID - S0002-9394(18)30399-4 [pii]
AID - 10.1016/j.ajo.2018.07.018 [doi]
PST - ppublish
SO  - Am J Ophthalmol. 2018 Nov;195:16-25. doi: 10.1016/j.ajo.2018.07.018. Epub 2018 
      Jul 26.