Abstract
Purpose::
To describe and illustrate the disease and carrier states of choroideremia, stargardt’s disease, and pattern dystrophy using an ultrawidefield imaging system that allows for examination of the far periphery of the fundus.
Methods::
Six individuals from two families with X-linked choroideremia including each mother who is an obligate carrier of the diseased gene were identified. Diagnosis of the disease and carrier states were made by clinical examination and ancillary testing including formal electrophysiology. One case of Stargardt’s disease and one case of pattern dystrophy were identified. An optomap® fa Dynamic Ultra-widefield Angiography system was used to examine the far periphery of the retina and choroid with color fundus imaging and fluorescein angiography (FA).
Results::
Ultrawidefield imaging of the fundus of three retinal dystrophy types were performed. The choroideremia cases displayed peripheral wipe-out of the retinal pigment epithelium and choriocapillaris in a scalloped pattern with preservation in the macular region in both eyes. The Stargardt’s case showed normal peripheral vasculature with central atrophy. The pattern dystrophy displayed normal peripheral vascular pattern with a "butterfly" shaped central staining pattern.
Conclusions::
The optomap® fa Dynamic Ultra-widefield Angiography System scans 200° of the retina and choroid. This is the first case series utilizing ultrawidefield color and FA imaging to demonstrate the far peripheral retinal and choroidal pathology in the affected and carrier states of choroideremia, stargardt’s disease, and pattern dystrophy.
Keywords: imaging methods (CT, FA, ICG, MRI, OCT, RTA, SLO, ultrasound) • retina • choroid