Multimodal Imaging in Hereditary Retinal Diseases

Antonio P. Ciardella,Chiara Veronese,Paolo Nucci,Francesco Pichi,Mariachiara Morara

doi:10.1155/2013/634351

Antonio P. Ciardella, Chiara Veronese + Show 3 more

Open Access

https://doi.org/10.1155/2013/634351

Copy DOI

Abstract

Introduction. In this retrospective study we evaluated the multimodal visualization of retinal genetic diseases to better understand their natural course. Material and Methods. We reviewed the charts of 70 consecutive patients with different genetic retinal pathologies who had previously undergone multimodal imaging analyses. Genomic DNA was extracted from peripheral blood and genotyped at the known locus for the different diseases. Results. The medical records of 3 families of a 4-generation pedigree affected by North Carolina macular dystrophy were reviewed. A total of 8 patients with Stargardt disease were evaluated for their two main defining clinical characteristics, yellow subretinal flecks and central atrophy. Nine male patients with a previous diagnosis of choroideremia and eleven female carriers were evaluated. Fourteen patients with Best vitelliform macular dystrophy and 6 family members with autosomal recessive bestrophinopathy were included. Seven patients with enhanced s-cone syndrome were ascertained. Lastly, we included 3 unrelated patients with fundus albipunctatus. Conclusions. In hereditary retinal diseases, clinical examination is often not sufficient for evaluating the patient's condition. Retinal imaging then becomes important in making the diagnosis, in monitoring the progression of disease, and as a surrogate outcome measure of the efficacy of an intervention.

Highlights

In this retrospective study we evaluated the multimodal visualization of retinal genetic diseases to better understand their natural course
This study reports a comparison between fundus autofluorescence (FAF), fluorescein angiography (FA), indocyanine green angiography (ICGA), and OCT for imaging of genetic retinal diseases
North Carolina macular dystrophy is unusual in its phenotypic variability and has been classified into different grades: grade 1, drusen-like yellow-white lesions in the macula at the level of the retinal pigment epithelium (RPE); grade 2, confluent drusen with or without pigmentary changes, RPE atrophy, or a disciform scar; and grade 3, staphyloma or coloboma with chorioretinal atrophy [13,14,15] (Figure 1)

Summary

Introduction

In this retrospective study we evaluated the multimodal visualization of retinal genetic diseases to better understand their natural course. We reviewed the charts of 70 consecutive patients with different genetic retinal pathologies who had previously undergone multimodal imaging analyses. Clinical examination is often not sufficient for evaluating the patient’s condition. Retinal imaging becomes important in making the diagnosis, in monitoring the progression of disease, and as a surrogate outcome measure of the efficacy of an intervention. Evaluation of the retina is a critical step in understanding and diagnosing genetic disease. In a number of diseases, the clinical examination is not sufficient for evaluating the patient’s condition. Retinal imaging becomes important in making the diagnosis and in monitoring the progression of disease. Alteration of retinal imaging might serve as a surrogate outcome measure of the efficacy of an intervention, rather than waiting for years to determine if a disease has progressed clinically

Methods

Results

Conclusion