Abstract:
PURPOSE:To describe the spectral domain-optical coherence tomography (SD-OCT) findings of two patients with complete defects in the retinal pigment epithelium (RPE) with disruptions in Bruch membrane in Stargardt disease (STGD1). METHODS:Two patients with STGD1 were referred to our clinic for further evaluation. Fundus autofluorescence (FAF), spectral domain optical coherence tomography (SD-OCT), electroretinography (ERG) and Microperimetry (MP-1) were performed to assess the retinal anatomy and function. Screening for mutations in the ABCA4 gene was carried out and detected mutations were confirmed by direct sequencing. RESULTS:Both patients had bilateral macular geographic atrophy (GA) and yellowish subretinal pisciform flecks and mutations were detected in the ABCA4 gene by chip screening. SD-OCT revealed marked atrophy of the retina in the central macula, with focal defects in the RPE with disruptions in Bruch membrane and herniation of the retina through the defect in three of four eyes. CONCLUSION:This case report highlights the necessity for a detailed ophthalmic examination including SD-OCT of patients with STGD1.
journal_name
Ophthalmic Genetjournal_title
Ophthalmic geneticsauthors
Park SP,Chang S,Allikmets R,Smith RT,Burke TR,Gregory-Roberts E,Tsang SHdoi
10.3109/13816810.2011.628358subject
Has Abstractpub_date
2012-03-01 00:00:00pages
49-52issue
1eissn
1381-6810issn
1744-5094journal_volume
33pub_type
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2011.599356
更新日期:2012-03-01 00:00:00
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更新日期:2010-12-01 00:00:00
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更新日期:2017-09-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:2013-12-01 00:00:00
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