Vitreoretinal lymphoma (VRL) is well known as a masquerade syndrome. However, delays in diagnosis are common particularly because of the small volume of tissue that is used for investigative studies. We outline the current diagnostic tests available to clinicians and provide a glimpse of possible future novel diagnostics.
The use of spectral domain ocular coherence tomography to identify subretinal lesions has proven to be a reliable ally to clinicians. Nevertheless, the diagnostic gold standard remains cytology, which requires a skilled pathologist. Molecular tests, including MYD88 polymerase chain reaction testing has further refined our diagnostic capabilities. Metagenomic deep sequencing is a newer molecular test that offers the ability to identify any mutation associated with lymphoma development and may offer more sensitive testing in the future.
Clinicians have developed a strong acumen for suspecting VRL based upon clinical features, which can further be supported by a variety of imaging modalities. Delays in diagnosis continue to occur particularly because of the small volume of ocular fluid available for testing and because current tests offer a biased approach in terms of limited scope of detecting a specific mutation or cytopathologic feature(s). Newer molecular techniques feature an expanded scope of detecting any mutation associated with lymphomatous development.
aUniversity of Hawaii, John A. Burns School of Medicine, Honolulu, Hawaii
bFrancis I. Proctor Foundation
cDepartment of Ophthalmology, University of California San Francisco, San Francisco, California, USA
Correspondence to John A. Gonzales, MD, Francis I Proctor Foundation, University of California, San Francisco, 95 Kirkham Street, San Francisco, CA 94122, USA. Tel: +1 415 502 2664; fax: +1 415 502 2521; e-mail: firstname.lastname@example.org