Multimodal Approach to Monitoring and Investigating Cone Structure and Function in an Inherited Macular Dystrophy

Lucia Ziccardi, Daniela Giannini, Giuseppe Lombardo, Sebastiano Serrao, Roberto Dell'Omo, Annalisa Nicoletti, Matteo Bertelli, Marco Lombardo

Research output: Contribution to journalArticle


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

Original languageEnglish
Pages (from-to)301-312.e6
JournalAmerican Journal of Ophthalmology
Issue number2
Publication statusPublished - Aug 1 2015


ASJC Scopus subject areas

  • Ophthalmology
  • Medicine(all)

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