Multimodal imaging in hereditary retinal diseases

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

Research output: Contribution to journalArticle

13 Citations (Scopus)

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.

Original languageEnglish
Article number634351
JournalJournal of Ophthalmology
Volume2013
DOIs
Publication statusPublished - 2013

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Multimodal Imaging
Retinal Diseases
Inborn Genetic Diseases
Choroideremia
Vitelliform Macular Dystrophy
Pedigree
Atrophy
Medical Records
Disease Progression
Retrospective Studies
Outcome Assessment (Health Care)
Pathology
DNA

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Pichi, F., Morara, M., Veronese, C., Nucci, P., & Ciardella, A. P. (2013). Multimodal imaging in hereditary retinal diseases. Journal of Ophthalmology, 2013, [634351]. https://doi.org/10.1155/2013/634351

Multimodal imaging in hereditary retinal diseases. / Pichi, Francesco; Morara, Mariachiara; Veronese, Chiara; Nucci, Paolo; Ciardella, Antonio P.

In: Journal of Ophthalmology, Vol. 2013, 634351, 2013.

Research output: Contribution to journalArticle

Pichi, F, Morara, M, Veronese, C, Nucci, P & Ciardella, AP 2013, 'Multimodal imaging in hereditary retinal diseases', Journal of Ophthalmology, vol. 2013, 634351. https://doi.org/10.1155/2013/634351
Pichi F, Morara M, Veronese C, Nucci P, Ciardella AP. Multimodal imaging in hereditary retinal diseases. Journal of Ophthalmology. 2013;2013. 634351. https://doi.org/10.1155/2013/634351
Pichi, Francesco ; Morara, Mariachiara ; Veronese, Chiara ; Nucci, Paolo ; Ciardella, Antonio P. / Multimodal imaging in hereditary retinal diseases. In: Journal of Ophthalmology. 2013 ; Vol. 2013.
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