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Multimodal imaging in a patient with Prader-Willi syndrome
Mohamed A Hamid1, Mitul C Mehta1, Baruch D Kuppermann1
1Gavin Herbert Eye Institute, University of California Irvine, 850 Health Sciences Road, Irvine, CA 92697 USA.
International Journal of Retina and Vitreous
|December 7, 2018
Summary
Prader-Willi syndrome (PWS) patients may experience vision problems, including fovea plana and choroidal neovascularization. Multimodal imaging reveals new insights into PWS and oculocutaneous albinism overlaps.
Area of Science:
- Ophthalmology
- Genetics
- Medical Imaging
Background:
- Prader-Willi syndrome (PWS) is a genetic disorder affecting chromosome 15, with known ophthalmic manifestations.
- Oculocutaneous albinism (OCA) overlap in PWS is linked to the OCA2 gene deletion within the PWS critical region (PWCR).
Observation:
- A 30-year-old male with PWS presented with decreased vision in his left eye.
- Multimodal imaging of the right eye showed absent foveal depression and a reduced foveal avascular zone.
- The left eye exhibited an inactive type 2 macular neovascular lesion.
Findings:
- This case suggests a potential association between fovea plana and choroidal neovascularization in patients with Prader-Willi syndrome.
- Novel imaging findings were observed in a PWS patient.
Implications:
- These findings may enhance the understanding of the complex relationship between PWS and oculocutaneous albinism.
- Multimodal imaging is crucial for diagnosing and understanding ophthalmic complications in PWS.
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