title: Multimodal Approach to Monitoring and Investigating Cone Structure and Function in an Inherited Macular Dystrophy.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  Observational case series.
  
  
  METHODS
  setting: Fondazione G.B. Bietti IRCCS, Rome, Italy.
  
  
  METHODS
  RP1L1 family members and controls.
  
  
  METHODS
  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.
authors.affiliation: Fondazione G.B. Bietti - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Ziccardi
authors.affiliation: 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.
authors.forename: Daniela
authors.initials: D
authors.lastname: Giannini
authors.affiliation: Consiglio Nazionale delle Ricerche, Istituto di Processi Chimico-Fisici (CNR-IPCF), Messina, Italy; Vision Engineering Italy srl, Rome, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Lombardo
authors.affiliation: Fondazione G.B. Bietti - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy.
authors.forename: Sebastiano
authors.initials: S
authors.lastname: Serrao
authors.affiliation: Department of Medicine and Health Sciences, University of Molise, Campobasso, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Dell'Omo
authors.affiliation: MAGI's Lab srl, Rovereto, Italy.
authors.forename: Annalisa
authors.initials: A
authors.lastname: Nicoletti
authors.affiliation: MAGI's Lab srl, Rovereto, Italy.
authors.forename: Matteo
authors.initials: M
authors.lastname: Bertelli
authors.affiliation: Fondazione G.B. Bietti - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy. Electronic address: mlombardo@visioeng.it.
authors.forename: Marco
authors.initials: M
authors.lastname: Lombardo
mesh_terms: D004596:Electroretinography / Q000379:methods; D005260:Female; D005451:Fluorescein Angiography / Q000379:methods; D005654:Fundus Oculi; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis* / Q000503:physiopathology; D008297:Male; D008991:Monitoring, Physiologic / Q000379:methods*; D064847:Multimodal Imaging / Q000379:methods*; D009887:Ophthalmoscopy / Q000379:methods; D017949:Retinal Cone Photoreceptor Cells / Q000473:pathology*; D041623:Tomography, Optical Coherence / Q000379:methods; D014792:Visual Acuity; D055815:Young Adult