A Prospective Audit Comparing Optos Widefield Imaging to Fundus Examination for Von Hippel-Lindau Retinal Screening

Area of Science:

• Ophthalmology
• Medical Imaging
• Genetics

Background:

• Von Hippel-Lindau (VHL) disease is an inherited disorder linked to VHL gene mutations, causing multisystem tumors.
• Retinal capillary hemangiomas affect up to 80% of VHL gene carriers, necessitating lifelong surveillance.
• Traditional yearly retinal surveillance uses slit-lamp fundoscopy, with Optos ultra-widefield imaging emerging as a new tool.

Purpose of the Study:

• To compare the diagnostic accuracy of Optos ultra-widefield imaging versus slit-lamp fundoscopy for detecting VHL-related retinal angiomas.
• To evaluate Optos imaging as a potential alternative for routine VHL retinal surveillance.

Main Methods:

• A comparative study involving 49 VHL patients (94 eyes) over 16 months.
• Both Optos ultra-widefield imaging and slit-lamp fundoscopy were performed.
• Optos images were independently assessed by a masked Consultant Ophthalmologist.

Main Results:

• Optos imaging detected angiomas in 12.8% of eyes, compared to 11.7% detected by slit-lamp fundoscopy.
• A minor discrepancy (1.1%) was noted where Optos suggested an angioma not seen on fundoscopy.
• Optos imaging successfully identified all angiomas present in the studied cohort.

Conclusions:

• Optos ultra-widefield imaging demonstrated non-inferiority to slit-lamp fundoscopy for VHL retinal angioma detection.
• Optos imaging is a suitable alternative for annual VHL retinal surveillance, especially in contexts requiring reduced patient-clinician contact.
• This supports the integration of Optos imaging into VHL multidisciplinary clinics and virtual screening programs.