PMID- 25174897
OWN - NLM
STAT- MEDLINE
DCOM- 20150204
LR  - 20171116
IS  - 1879-1891 (Electronic)
IS  - 0002-9394 (Linking)
VI  - 158
IP  - 6
DP  - 2014 Dec
TI  - Near-infrared fundus autofluorescence in subclinical best vitelliform macular 
      dystrophy.
PG  - 1247-1252.e2
LID - S0002-9394(14)00530-3 [pii]
LID - 10.1016/j.ajo.2014.08.028 [doi]
AB  - PURPOSE: To describe fundus autofluorescence (FAF) on short-wavelength FAF and 
      near-infrared FAF in the subclinical form of Best vitelliform macular dystrophy. 
      DESIGN: Cross-sectional prospective study. METHODS: Patients affected by the 
      subclinical form of Best vitelliform macular dystrophy (positive testing for 
      BEST1 gene mutation, fully preserved best-corrected visual acuity, normal fundus 
      appearance) were recruited. Each patient underwent a complete ophthalmologic 
      examination, including electro-oculogram (EOG), short-wavelength FAF, 
      near-infrared FAF, spectral-domain OCT (SD OCT), and microperimetry. Main outcome 
      measure was the identification of abnormal FAF patterns. RESULTS: Forty-six 
      patients showing mutations in the BEST1 gene were examined. Forty patients 
      presented a bilateral Best vitelliform macular dystrophy, 2 patients showed a 
      unilateral Best vitelliform macular dystrophy, and 4 patients had a bilateral 
      subclinical form. Patients with the unilateral form (2 eyes) and patients with 
      the subclinical form (8 eyes) were analyzed. Three BEST1 sequence variants were 
      identified: c.73C>T (p.Arg25Trp), c.28G>A (p.Ala10Thr), and c.652C>G 
      (p.Arg218Gly). Short-wavelength FAF was normal in all eyes. Near-infrared FAF 
      detected a pattern consisting of a central hypo-autofluorescence surrounded by a 
      round area of hyper-autofluorescence. A bilateral reduced EOG response was 
      detected in 1 patient. SD OCT revealed a thicker, well-defined, and more 
      reflective interdigitation zone in 2 patients (4 eyes, 40%). Microperimetry of 
      the central 10 degrees revealed a slight, diffuse reduction of retinal 
      sensitivity. Mean retinal sensitivity within the central 2 and 4 degrees was 
      lower and matched the hypo-autofluorescent area detected on near-infrared FAF. 
      Additional relative scotomata were detected within the 10-degree area. No change 
      in clinical, functional, or FAF pattern was found over the follow-up. 
      CONCLUSIONS: Subclinical Best vitelliform macular dystrophy is characterized by 
      the absence of biomicroscopic fundus abnormality and fully preserved visual 
      acuity, but shows an abnormal near-infrared FAF pattern, with central 
      hypo-autofluorescence.
CI  - Copyright (c) 2014 Elsevier Inc. All rights reserved.
FAU - Parodi, Maurizio Battaglia
AU  - Parodi MB
AD  - Department of Ophthalmology, University Vita-Salute, Scientific Institute San 
      Raffaele, Milan, Italy.
FAU - Iacono, Pierluigi
AU  - Iacono P
AD  - Fondazione G. B. Bietti per l'Oftalmologia, Istituto di Ricovero e Cura a 
      Carattere Scientifico (IRCCS), Rome, Italy. Electronic address: 
      pierluigi.iacono@libero.it.
FAU - Del Turco, Claudia
AU  - Del Turco C
AD  - Department of Ophthalmology, University Vita-Salute, Scientific Institute San 
      Raffaele, Milan, Italy.
FAU - Bandello, Francesco
AU  - Bandello F
AD  - Department of Ophthalmology, University Vita-Salute, Scientific Institute San 
      Raffaele, Milan, Italy.
LA  - eng
PT  - Journal Article
DEP - 20140828
PL  - United States
TA  - Am J Ophthalmol
JT  - American journal of ophthalmology
JID - 0370500
RN  - 0 (BEST1 protein, human)
RN  - 0 (Bestrophins)
RN  - 0 (Chloride Channels)
RN  - 0 (Eye Proteins)
SB  - IM
MH  - Adult
MH  - Bestrophins
MH  - Child
MH  - Chloride Channels/genetics
MH  - Cross-Sectional Studies
MH  - Electrooculography
MH  - Eye Proteins/genetics
MH  - Female
MH  - *Fluorescein Angiography
MH  - Humans
MH  - Infrared Rays
MH  - Male
MH  - Middle Aged
MH  - Mutation
MH  - *Optical Imaging
MH  - Prospective Studies
MH  - Tomography, Optical Coherence
MH  - Visual Acuity/physiology
MH  - Visual Field Tests
MH  - Visual Fields/physiology
MH  - Vitelliform Macular Dystrophy/*diagnosis/genetics
EDAT- 2014/09/02 06:00
MHDA- 2015/02/05 06:00
CRDT- 2014/09/02 06:00
PHST- 2014/06/25 00:00 [received]
PHST- 2014/08/25 00:00 [revised]
PHST- 2014/08/25 00:00 [accepted]
PHST- 2014/09/02 06:00 [entrez]
PHST- 2014/09/02 06:00 [pubmed]
PHST- 2015/02/05 06:00 [medline]
AID - S0002-9394(14)00530-3 [pii]
AID - 10.1016/j.ajo.2014.08.028 [doi]
PST - ppublish
SO  - Am J Ophthalmol. 2014 Dec;158(6):1247-1252.e2. doi: 10.1016/j.ajo.2014.08.028. 
      Epub 2014 Aug 28.