Multimodal Imaging in Hereditary Retinal Diseases
Joint Authors
Pichi, Francesco
Nucci, Paolo
Morara, Mariachiara
Ciardella, Antonio P.
Veronese, Chiara
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-11, 11 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-04-24
Country of Publication
Egypt
No. of Pages
11
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Pichi, Francesco& Morara, Mariachiara& Veronese, Chiara& Nucci, Paolo& Ciardella, Antonio P.. 2013. Multimodal Imaging in Hereditary Retinal Diseases. Journal of Ophthalmology،Vol. 2013, no. 2013, pp.1-11.
https://search.emarefa.net/detail/BIM-486851
Modern Language Association (MLA)
Pichi, Francesco…[et al.]. Multimodal Imaging in Hereditary Retinal Diseases. Journal of Ophthalmology No. 2013 (2013), pp.1-11.
https://search.emarefa.net/detail/BIM-486851
American Medical Association (AMA)
Pichi, Francesco& Morara, Mariachiara& Veronese, Chiara& Nucci, Paolo& Ciardella, Antonio P.. Multimodal Imaging in Hereditary Retinal Diseases. Journal of Ophthalmology. 2013. Vol. 2013, no. 2013, pp.1-11.
https://search.emarefa.net/detail/BIM-486851
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-486851