PMID- 25908487
OWN - NLM
STAT- MEDLINE
DCOM- 20150928
LR  - 20150718
IS  - 1879-1891 (Electronic)
IS  - 0002-9394 (Linking)
VI  - 160
IP  - 2
DP  - 2015 Aug
TI  - Multimodal Approach to Monitoring and Investigating Cone Structure and Function 
      in an Inherited Macular Dystrophy.
PG  - 301-312.e6
LID - S0002-9394(15)00227-5 [pii]
LID - 10.1016/j.ajo.2015.04.024 [doi]
AB  - PURPOSE: To examine a female subject, her father, and a brother harboring a 
      missense mutation of the retinitis pigmentosa 1-like 1 (RP1L1) gene, over 2 years 
      of follow-up. DESIGN: Observational case series. METHODS: setting: Fondazione 
      G.B. Bietti IRCCS, Rome, Italy. STUDY POPULATION: RP1L1 family members and 
      controls. MAIN OUTCOME MEASURES: Images of the cone mosaic acquired with an 
      adaptive optics retinal camera, spectral-domain optical coherence tomography (SD 
      OCT), and full-field and multifocal electroretinography (mfERG). RESULTS: In the 
      proband, best-corrected visual acuity (</=0.7 logMAR) was stable in both eyes 
      during follow-up, though analysis of adaptive optics images showed decreased cone 
      density in the central 9 degrees from the fovea with respect to controls (P < 
      .05) and cone density loss in the parafoveal area (2 degrees; <12%-16%) during 
      follow-up. Texture analysis of SD OCT images identified abnormalities of the 
      ellipsoid zone in the central 7 degrees, while mfERG response amplitudes were 
      reduced only in the central 5 degrees relative to controls. In the proband's 
      father, who had 0.0 logMAR visual acuity, significant cone loss was found in the 
      central 7 degrees from the fovea (P < .05); abnormal SD OCT and mfERG values with 
      respect to controls were found in corresponding retinal areas. No defects in the 
      cone structure and function were found in the proband's brother, who had 0.0 
      logMAR visual acuity. CONCLUSIONS: Occult macular dystrophy was diagnosed based 
      on genetic and multimodal ophthalmic findings. The quantitative assessment of 
      photoreceptor survival or loss, based on analysis of adaptive optics retinal 
      images, was valuable to monitor disease progression at a cellular level.
CI  - Copyright (c) 2015 Elsevier Inc. All rights reserved.
FAU - Ziccardi, Lucia
AU  - Ziccardi L
AD  - Fondazione G.B. Bietti - Istituto di Ricovero e Cura a Carattere Scientifico 
      (IRCCS), Rome, Italy.
FAU - Giannini, Daniela
AU  - Giannini D
AD  - Fondazione G.B. Bietti - Istituto di Ricovero e Cura a Carattere Scientifico 
      (IRCCS), Rome, Italy; Department of Statistical Sciences, University of Rome "La 
      Sapienza", Rome, Italy.
FAU - Lombardo, Giuseppe
AU  - Lombardo G
AD  - Consiglio Nazionale delle Ricerche, Istituto di Processi Chimico-Fisici 
      (CNR-IPCF), Messina, Italy; Vision Engineering Italy srl, Rome, Italy.
FAU - Serrao, Sebastiano
AU  - Serrao S
AD  - Fondazione G.B. Bietti - Istituto di Ricovero e Cura a Carattere Scientifico 
      (IRCCS), Rome, Italy.
FAU - Dell'Omo, Roberto
AU  - Dell'Omo R
AD  - Department of Medicine and Health Sciences, University of Molise, Campobasso, 
      Italy.
FAU - Nicoletti, Annalisa
AU  - Nicoletti A
AD  - MAGI's Lab srl, Rovereto, Italy.
FAU - Bertelli, Matteo
AU  - Bertelli M
AD  - MAGI's Lab srl, Rovereto, Italy.
FAU - Lombardo, Marco
AU  - Lombardo M
AD  - Fondazione G.B. Bietti - Istituto di Ricovero e Cura a Carattere Scientifico 
      (IRCCS), Rome, Italy. Electronic address: mlombardo@visioeng.it.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Observational Study
PT  - Research Support, Non-U.S. Gov't
DEP - 20150420
PL  - United States
TA  - Am J Ophthalmol
JT  - American journal of ophthalmology
JID - 0370500
SB  - IM
MH  - Electroretinography/methods
MH  - Female
MH  - Fluorescein Angiography/methods
MH  - Fundus Oculi
MH  - Humans
MH  - Macular Degeneration/*diagnosis/physiopathology
MH  - Male
MH  - Monitoring, Physiologic/*methods
MH  - Multimodal Imaging/*methods
MH  - Ophthalmoscopy/methods
MH  - Retinal Cone Photoreceptor Cells/*pathology
MH  - Tomography, Optical Coherence/methods
MH  - *Visual Acuity
MH  - Young Adult
EDAT- 2015/04/25 06:00
MHDA- 2015/09/29 06:00
CRDT- 2015/04/25 06:00
PHST- 2015/01/17 00:00 [received]
PHST- 2015/04/11 00:00 [revised]
PHST- 2015/04/14 00:00 [accepted]
PHST- 2015/04/25 06:00 [entrez]
PHST- 2015/04/25 06:00 [pubmed]
PHST- 2015/09/29 06:00 [medline]
AID - S0002-9394(15)00227-5 [pii]
AID - 10.1016/j.ajo.2015.04.024 [doi]
PST - ppublish
SO  - Am J Ophthalmol. 2015 Aug;160(2):301-312.e6. doi: 10.1016/j.ajo.2015.04.024. Epub 
      2015 Apr 20.