TY - JOUR
T1 - Multimodal Approach to Monitoring and Investigating Cone Structure and Function in an Inherited Macular Dystrophy
AU - Ziccardi, Lucia
AU - Giannini, Daniela
AU - Lombardo, Giuseppe
AU - Serrao, Sebastiano
AU - Dell'Omo, Roberto
AU - Nicoletti, Annalisa
AU - Bertelli, Matteo
AU - Lombardo, Marco
PY - 2015/8/1
Y1 - 2015/8/1
N2 - 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
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
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U2 - 10.1016/j.ajo.2015.04.024
DO - 10.1016/j.ajo.2015.04.024
M3 - Article
C2 - 25908487
AN - SCOPUS:84937515691
VL - 160
SP - 301-312.e6
JO - American Journal of Ophthalmology
JF - American Journal of Ophthalmology
SN - 0002-9394
IS - 2
ER -