Multimodal Imaging in Hereditary Retinal Diseases
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 m...
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Journal of Ophthalmology |
| Online Access: | http://dx.doi.org/10.1155/2013/634351 |
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| author | Francesco Pichi Mariachiara Morara Chiara Veronese Paolo Nucci Antonio P. Ciardella |
| author_facet | Francesco Pichi Mariachiara Morara Chiara Veronese Paolo Nucci Antonio P. Ciardella |
| author_sort | Francesco Pichi |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-691cac378a3341d6b68d6f2c4d77815d |
| institution | Kabale University |
| issn | 2090-004X 2090-0058 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Ophthalmology |
| spelling | doaj-art-691cac378a3341d6b68d6f2c4d77815d2025-08-20T03:33:32ZengWileyJournal of Ophthalmology2090-004X2090-00582013-01-01201310.1155/2013/634351634351Multimodal Imaging in Hereditary Retinal DiseasesFrancesco Pichi0Mariachiara Morara1Chiara Veronese2Paolo Nucci3Antonio P. Ciardella4San Giuseppe Hospital, University Eye Clinic, Via San Vittore 12, 20123 Milan, ItalySant’Orsola-Malpighi Hospital, Ophthalmology Unit, Via Palagi 9, 40138 Bologna, ItalySant’Orsola-Malpighi Hospital, Ophthalmology Unit, Via Palagi 9, 40138 Bologna, ItalySan Giuseppe Hospital, University Eye Clinic, Via San Vittore 12, 20123 Milan, ItalySant’Orsola-Malpighi Hospital, Ophthalmology Unit, Via Palagi 9, 40138 Bologna, ItalyIntroduction. 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.http://dx.doi.org/10.1155/2013/634351 |
| spellingShingle | Francesco Pichi Mariachiara Morara Chiara Veronese Paolo Nucci Antonio P. Ciardella Multimodal Imaging in Hereditary Retinal Diseases Journal of Ophthalmology |
| title | Multimodal Imaging in Hereditary Retinal Diseases |
| title_full | Multimodal Imaging in Hereditary Retinal Diseases |
| title_fullStr | Multimodal Imaging in Hereditary Retinal Diseases |
| title_full_unstemmed | Multimodal Imaging in Hereditary Retinal Diseases |
| title_short | Multimodal Imaging in Hereditary Retinal Diseases |
| title_sort | multimodal imaging in hereditary retinal diseases |
| url | http://dx.doi.org/10.1155/2013/634351 |
| work_keys_str_mv | AT francescopichi multimodalimaginginhereditaryretinaldiseases AT mariachiaramorara multimodalimaginginhereditaryretinaldiseases AT chiaraveronese multimodalimaginginhereditaryretinaldiseases AT paolonucci multimodalimaginginhereditaryretinaldiseases AT antoniopciardella multimodalimaginginhereditaryretinaldiseases |