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Am J Ophthalmol. 2015 Aug;160(2):301-312.e6. doi: 10.1016/j.ajo.2015.04.024. Epub 2015 Apr 20.

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

Author information

1
Fondazione G.B. Bietti - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy.
2
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.
3
Consiglio Nazionale delle Ricerche, Istituto di Processi Chimico-Fisici (CNR-IPCF), Messina, Italy; Vision Engineering Italy srl, Rome, Italy.
4
Department of Medicine and Health Sciences, University of Molise, Campobasso, Italy.
5
MAGI's Lab srl, Rovereto, Italy.
6
Fondazione G.B. Bietti - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy. Electronic address: mlombardo@visioeng.it.

Abstract

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.

PMID:
25908487
DOI:
10.1016/j.ajo.2015.04.024
[Indexed for MEDLINE]

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