Leng, Theodore and Marmor, Michael F. and Kellner, Ulrich and Thompson, Dorothy A. and Renner, Agnes B. and Moore, William and Sowden, Jane C. (2012) FOVEAL CAVITATION AS AN OPTICAL COHERENCE TOMOGRAPHY FINDING IN CENTRAL CONE DYSFUNCTION. RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 32 (7). pp. 1411-1419. ISSN 0275-004X,
Full text not available from this repository. (Request a copy)Abstract
Purpose: To describe a distinctive foveal cavitation as seen by spectral-domain optical coherence tomography in certain cone dysfunction syndromes. Methods: Observational case series. Patients were evaluated by dilated fundus examination, fundus photography, fundus autofluorescence, full-field electroretinogram, multifocal electroretinogram, spectral-domain optical coherence tomography, color vision testing, fluorescein angiography, Goldmann visual field testing, and molecular genetic analysis. Results: We present eight patients with foveal cavitation in association with presumed cone dysfunction. This was characterized on spectral-domain optical coherence tomography by a gap in the subfoveal outer segment layer without more diffuse retinal thinning. There were 5 patients of age 10 years to 27 years and 3 patients of age 49 years to 52 years, with a 1.5- to 38-year history of bilateral visual loss. A small foveal oval-shaped area of reduced foveal fundus autofluorescence, surrounded by increased fundus autofluorescence, was seen in the younger patients, and a broad circle of increased fundus autofluorescence in the older patients. The multifocal electroretinogram always showed central amplitude reduction, but there were varying degrees of cone dysfunction on full-field electroretinogram. There were mild abnormalities on desaturated color vision testing. The family history was noncontributory in all cases. None of the cases were congenital. ABCA4 gene mutations were identified in three of five patients tested; CNGB3 testing was negative in these patients. Conclusion: Cone dysfunction syndromes typically show retinal thinning on optical coherence tomography imaging, although several case reports have noted focal outer retinal loss. Our case series shows that a distinctive optical coherence tomography finding, foveal cavitation, may be a clue to cone dysfunction syndromes, but is not specific to any one hereditary disorder or age group. RETINA 32:1411-1419, 2012
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | OCCULT MACULAR DYSTROPHY; ACHROMATOPSIA; DISEASE; OCT; optical coherence tomography; electroretinogram; genetics; cone dysfunction; macula; retina; fundus autofluorescence; ABCA4 |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Augenheilkunde |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 11 May 2020 07:33 |
| Last Modified: | 11 May 2020 07:33 |
| URI: | https://pred.uni-regensburg.de/id/eprint/18526 |
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