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CUTICULAR DRUSEN IN AN INDIGENOUS AUSTRALIAN
William J Cunningham1,2, Chandrakumar Balaratnasingam1,3, Yi Chen1
1Centre for Ophthalmology and Visual Science (incorporating Lions Eye Institute), The University of Western Australia, Perth, Western Australia, Australia.
Retinal Cases & Brief Reports
|December 9, 2017
Summary
This case study reports the first instance of cuticular drusen in an indigenous Australian, identified through multimodal retinal imaging. The findings suggest potential genetic links and widespread Bruch membrane disturbances.
Area of Science:
- Ophthalmology
- Medical Imaging
- Genetics
Background:
- Cuticular drusen are rare, small, calcified deposits within Bruch's membrane.
- This report details a unique case in an indigenous Australian patient.
Observation:
- A 37-year-old indigenous Australian woman presented with vision loss.
- Multimodal retinal imaging, including spectral domain optical coherence tomography and various angiography techniques, was employed.
- Clinical examination and imaging data were analyzed.
Findings:
- Diagnosis of cuticular drusen confirmed.
- Associated complications included choroidal neovascularization with pigment epithelial detachment in the right eye and a foveal vitelliform lesion in the left eye.
- An unusual "negative-staining" pattern on late-phase indocyanine green angiography was observed, sparing drusen regions.
Implications:
- This is the first documented case of cuticular drusen in an indigenous Australian population.
- The findings suggest a possible link to ancestral genetic admixture.
- The observed angiography pattern indicates significant lipoprotein deposition abnormalities in Bruch's membrane.
