Subretinal Fibrosis in Stargardt’s Disease with Fundus Flavimaculatus and ABCA4 Gene Mutation
Purpose: To report on 4 patients affected by Stargardt’s disease (STGD) with fundus flavimaculatus (FFM) and ABCA4 gene mutation associated with subretinal fibrosis. Methods: Four patients with a diagnosis of STGD were clinically examined. All 4 cases underwent a full ophthalmologic evaluation, incl...
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| Format: | Article |
| Language: | English |
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Karger Publishers
2012-12-01
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| Series: | Case Reports in Ophthalmology |
| Subjects: | |
| Online Access: | http://www.karger.com/Article/FullText/345415 |
| _version_ | 1818506386138464256 |
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| author | Settimio Rossi Francesco Testa Marcella Attanasio Ada Orrico Antonella de Benedictis Michele Della Corte Francesca Simonelli |
| author_facet | Settimio Rossi Francesco Testa Marcella Attanasio Ada Orrico Antonella de Benedictis Michele Della Corte Francesca Simonelli |
| author_sort | Settimio Rossi |
| collection | DOAJ |
| description | Purpose: To report on 4 patients affected by Stargardt’s disease (STGD) with fundus flavimaculatus (FFM) and ABCA4 gene mutation associated with subretinal fibrosis. Methods: Four patients with a diagnosis of STGD were clinically examined. All 4 cases underwent a full ophthalmologic evaluation, including best-corrected visual acuity measured by the Snellen visual chart, biomicroscopic examination, fundus examination, fundus photography, electroretinogram, microperimetry, optical coherence tomography and fundus autofluorescence. All patients were subsequently screened for ABCA4 gene mutations, identified by microarray genotyping and confirmed by conventional DNA sequencing of the relevant exons. Results: In all 4 patients, ophthalmologic exam showed areas of subretinal fibrosis in different retinal sectors. In only 1 case, these lesions were correlated to an ocular trauma as confirmed by biomicroscopic examination of the anterior segment that showed a nuclear cataract dislocated to the superior site and vitreous opacities along the lens capsule. The other patients reported a lifestyle characterized by competitive sport activities. The performed instrumental diagnostic investigations confirmed the diagnosis of STGD with FFM in all patients. Moreover, in all 4 affected individuals, mutations in the ABCA4 gene were found. Conclusions: Patients with the diagnosis of STGD associated with FFM can show atypical fundus findings. We report on 4 patients affected by STGD with ABCA4 gene mutation associated with subretinal fibrosis. Our findings suggest that this phenomenon can be accelerated by ocular trauma and also by ocular microtrauma caused by sport activities, highlighting that lifestyle can play a role in the onset of these lesions. |
| first_indexed | 2024-12-10T22:03:51Z |
| format | Article |
| id | doaj.art-1a25b3aee5004095a48059a741088631 |
| institution | Directory Open Access Journal |
| issn | 1663-2699 |
| language | English |
| last_indexed | 2024-12-10T22:03:51Z |
| publishDate | 2012-12-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Ophthalmology |
| spelling | doaj.art-1a25b3aee5004095a48059a7410886312022-12-22T01:31:49ZengKarger PublishersCase Reports in Ophthalmology1663-26992012-12-013341041710.1159/000345415345415Subretinal Fibrosis in Stargardt’s Disease with Fundus Flavimaculatus and ABCA4 Gene MutationSettimio RossiFrancesco TestaMarcella AttanasioAda OrricoAntonella de BenedictisMichele Della CorteFrancesca SimonelliPurpose: To report on 4 patients affected by Stargardt’s disease (STGD) with fundus flavimaculatus (FFM) and ABCA4 gene mutation associated with subretinal fibrosis. Methods: Four patients with a diagnosis of STGD were clinically examined. All 4 cases underwent a full ophthalmologic evaluation, including best-corrected visual acuity measured by the Snellen visual chart, biomicroscopic examination, fundus examination, fundus photography, electroretinogram, microperimetry, optical coherence tomography and fundus autofluorescence. All patients were subsequently screened for ABCA4 gene mutations, identified by microarray genotyping and confirmed by conventional DNA sequencing of the relevant exons. Results: In all 4 patients, ophthalmologic exam showed areas of subretinal fibrosis in different retinal sectors. In only 1 case, these lesions were correlated to an ocular trauma as confirmed by biomicroscopic examination of the anterior segment that showed a nuclear cataract dislocated to the superior site and vitreous opacities along the lens capsule. The other patients reported a lifestyle characterized by competitive sport activities. The performed instrumental diagnostic investigations confirmed the diagnosis of STGD with FFM in all patients. Moreover, in all 4 affected individuals, mutations in the ABCA4 gene were found. Conclusions: Patients with the diagnosis of STGD associated with FFM can show atypical fundus findings. We report on 4 patients affected by STGD with ABCA4 gene mutation associated with subretinal fibrosis. Our findings suggest that this phenomenon can be accelerated by ocular trauma and also by ocular microtrauma caused by sport activities, highlighting that lifestyle can play a role in the onset of these lesions.http://www.karger.com/Article/FullText/345415LifestyleStargardt’s diseaseABCA4 geneSubretinal fibrosisOcular trauma |
| spellingShingle | Settimio Rossi Francesco Testa Marcella Attanasio Ada Orrico Antonella de Benedictis Michele Della Corte Francesca Simonelli Subretinal Fibrosis in Stargardt’s Disease with Fundus Flavimaculatus and ABCA4 Gene Mutation Case Reports in Ophthalmology Lifestyle Stargardt’s disease ABCA4 gene Subretinal fibrosis Ocular trauma |
| title | Subretinal Fibrosis in Stargardt’s Disease with Fundus Flavimaculatus and ABCA4 Gene Mutation |
| title_full | Subretinal Fibrosis in Stargardt’s Disease with Fundus Flavimaculatus and ABCA4 Gene Mutation |
| title_fullStr | Subretinal Fibrosis in Stargardt’s Disease with Fundus Flavimaculatus and ABCA4 Gene Mutation |
| title_full_unstemmed | Subretinal Fibrosis in Stargardt’s Disease with Fundus Flavimaculatus and ABCA4 Gene Mutation |
| title_short | Subretinal Fibrosis in Stargardt’s Disease with Fundus Flavimaculatus and ABCA4 Gene Mutation |
| title_sort | subretinal fibrosis in stargardt s disease with fundus flavimaculatus and abca4 gene mutation |
| topic | Lifestyle Stargardt’s disease ABCA4 gene Subretinal fibrosis Ocular trauma |
| url | http://www.karger.com/Article/FullText/345415 |
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