|Year : 2020 | Volume
| Issue : 10 | Page : 2266
Multimodal imaging in familial dominant drusen
Nitin Kumar, Monika Balyan, Reema Bansal
Advanced Eye Centre, Department of Ophthalmology, Post Graduate Institute of Medical Education and Research, Chandigarh, Punjab, India
|Date of Web Publication||23-Sep-2020|
Dr. Reema Bansal
Room No. 116, Advanced Eye Center, PGIMER, Chandigarh - 160 012
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Kumar N, Balyan M, Bansal R. Multimodal imaging in familial dominant drusen. Indian J Ophthalmol 2020;68:2266
A 42-year-old female came for routine checkup with 20/20 vision. Fundus examination revealed bilateral, numerous, yellowish-white, round, and closely spaced lesions extending from the vascular arcades till the periphery, sparing a small island of macula, suggestive of familial dominant drusen [Figure 1]a and [Figure 1]b. Fundus autofluorescence revealed bright hyperautofluorescence of the lesions [Figure 1]c and [Figure 1]d. Optical coherence tomography scans showed thickened retinal pigment epithelium-bruchs membrane complex with localized elevations [Figure 1]e and [Figure 1]f. The disease is caused by mutation in the EFEMP1 gene on short arm of chromosome 2, which encodes Fibulin-3, an extracellular matrix glycoprotein. Most patients are asymptomatic and retain good vision.,,
|Figure 1: (a-e) Ultra widefield fundus photographs showing bilateral, numerous, yellowish-white, round, closely spaced lesions extending from the vascular arcades till the periphery, sparing a small island of the macula (a and b), Fundus autofluorescence revealed bright hyperautofluorescence of the lesions (c and d). Optical coherence tomography scans of both eyes showing thickening of RPE-Bruchs complex with dome shaped RPE elevations (red arrows) and relative noninvolvement of neurosensory retina corresponding to the drusen (e and f)|
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Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
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