PMID- 23765342
OWN - NLM
STAT- MEDLINE
DCOM- 20131205
LR  - 20220317
IS  - 2168-6173 (Electronic)
IS  - 2168-6165 (Print)
IS  - 2168-6165 (Linking)
VI  - 131
IP  - 9
DP  - 2013 Sep
TI  - Outer retinal structure in best vitelliform macular dystrophy.
PG  - 1207-15
LID - 10.1001/jamaophthalmol.2013.387 [doi]
AB  - IMPORTANCE: Demonstrating the utility of adaptive optics scanning light 
      ophthalmoscopy (AOSLO) to assess outer retinal structure in Best vitelliform 
      macular dystrophy (BVMD). OBJECTIVE: To characterize outer retinal structure in 
      BVMD using spectral-domain optical coherence tomography (SD-OCT) and AOSLO. 
      DESIGN, SETTING, AND PARTICIPANTS: Prospective, observational case series. Four 
      symptomatic members of a family with BVMD with known BEST1 mutation were 
      recruited at the Advanced Ocular Imaging Program research lab at the Medical 
      College of Wisconsin Eye Institute, Milwaukee. INTERVENTION: Thickness of 2 outer 
      retinal layers corresponding to photoreceptor inner and outer segments was 
      measured using SD-OCT. Photoreceptor mosaic AOSLO images within and around 
      visible lesions were obtained, and cone density was assessed in 2 subjects. MAIN 
      OUTCOME AND MEASURE: Photoreceptor structure. RESULTS: Each subject was at a 
      different stage of BVMD, with photoreceptor disruption evident by AOSLO at all 
      stages. When comparing SD-OCT and AOSLO images from the same location, AOSLO 
      images allowed for direct assessment of photoreceptor structure. A variable 
      degree of retained photoreceptors was seen within all lesions. The photoreceptor 
      mosaic immediately adjacent to visible lesions appeared contiguous and was of 
      normal density. Fine hyperreflective structures were visualized by AOSLO, and 
      their anatomical orientation and size were consistent with Henle fibers. 
      CONCLUSIONS: AND RELEVANCE: The AOSLO findings indicate that substantial 
      photoreceptor structure persists within active lesions, accounting for good 
      visual acuity in these patients. Despite previous reports of diffuse 
      photoreceptor outer segment abnormalities in BVMD, our data reveal normal 
      photoreceptor structure in areas adjacent to clinical lesions. This study 
      demonstrates the utility of AOSLO for understanding the spectrum of cellular 
      changes that occur in inherited degenerations such as BVMD. Photoreceptors are 
      often significantly affected at various stages of inherited degenerations, and 
      these changes may not be readily apparent with current clinical imaging 
      instrumentation.
FAU - Kay, David B
AU  - Kay DB
AD  - Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin.
FAU - Land, Megan E
AU  - Land ME
FAU - Cooper, Robert F
AU  - Cooper RF
FAU - Dubis, Adam M
AU  - Dubis AM
FAU - Godara, Pooja
AU  - Godara P
FAU - Dubra, Alfredo
AU  - Dubra A
FAU - Carroll, Joseph
AU  - Carroll J
FAU - Stepien, Kimberly E
AU  - Stepien KE
LA  - eng
GR  - P30EY001931/EY/NEI NIH HHS/United States
GR  - 8UL1TR000055/TR/NCATS NIH HHS/United States
GR  - R01EY017607/EY/NEI NIH HHS/United States
GR  - R01 EY017607/EY/NEI NIH HHS/United States
GR  - UL1 RR 031973/RR/NCRR NIH HHS/United States
GR  - T32 EY014537/EY/NEI NIH HHS/United States
GR  - C06 RR016511/RR/NCRR NIH HHS/United States
GR  - P30 EY001931/EY/NEI NIH HHS/United States
GR  - UL1 TR000055/TR/NCATS NIH HHS/United States
GR  - UL1 RR031973/RR/NCRR NIH HHS/United States
GR  - T32EY014537/EY/NEI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - JAMA Ophthalmol
JT  - JAMA ophthalmology
JID - 101589539
RN  - 0 (BEST1 protein, human)
RN  - 0 (Bestrophins)
RN  - 0 (Chloride Channels)
RN  - 0 (Eye Proteins)
SB  - IM
CIN - JAMA Ophthalmol. 2014 Sep;132(9):1152-3. PMID: 25210991
CIN - JAMA Ophthalmol. 2014 Sep;132(9):1153. PMID: 25210993
MH  - Adolescent
MH  - Axial Length, Eye/pathology
MH  - Bestrophins
MH  - Chloride Channels/genetics
MH  - Eye Proteins/genetics
MH  - Female
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Ophthalmoscopy
MH  - Pedigree
MH  - Prospective Studies
MH  - Retinal Photoreceptor Cell Outer Segment/*pathology
MH  - Tomography, Optical Coherence
MH  - Visual Acuity/physiology
MH  - Vitelliform Macular Dystrophy/*diagnosis/genetics/physiopathology
PMC - PMC3968428
MID - NIHMS563024
EDAT- 2013/06/15 06:00
MHDA- 2013/12/16 06:00
PMCR- 2014/09/01
CRDT- 2013/06/15 06:00
PHST- 2013/06/15 06:00 [entrez]
PHST- 2013/06/15 06:00 [pubmed]
PHST- 2013/12/16 06:00 [medline]
PHST- 2014/09/01 00:00 [pmc-release]
AID - 1697780 [pii]
AID - 10.1001/jamaophthalmol.2013.387 [doi]
PST - ppublish
SO  - JAMA Ophthalmol. 2013 Sep;131(9):1207-15. doi: 10.1001/jamaophthalmol.2013.387.