Why MacTel2 is commonly misdiagnose, according to Vora

Robin A. Vora, MD, a retina specialist at Kaiser Permanente Oakland Medical Center, told Modern Retina that misdiagnosis of macular telangiectasia type 2 (MacTel2) remains common in everyday clinical practice, even as the first neuroprotective therapy for the disease reaches patients.

How often is MacTel2 misdiagnosed?

Vora and colleagues at Kaiser Permanente Northern California reviewed 754 patients carrying a MacTel2 diagnosis between 2012 and 2024; 562 (74.5%) met diagnostic criteria on specialist adjudication, while 192 (25.5%) did not. The most common alternative diagnosis was hypertensive retinopathy with perifoveal microaneurysms, followed by remote retinal vein occlusion and diabetic macular edema or nonproliferative diabetic retinopathy. Vora said MacTel2's name contributes to the problem: the word telangiectasia leads clinicians toward a vascular framework, when growing pathologic evidence points to MacTel2 as primarily a neurodegenerative disease involving Müller cells.

What imaging findings drive misdiagnosis?

Cystic changes on OCT and telangiectatic-appearing vessels or hemorrhage on examination were the imaging and clinical features most often mistaken for MacTel2, per Vora. He said a single isolated clinic visit—without old imaging showing the disease's characteristic slow evolution over years—can lead to a mislabeled diagnosis, especially in busy or satellite settings without full multimodal imaging.

Why accurate diagnosis matters more now

With revakinagene taroretcel (Encelto; Neurotech Pharmaceuticals) now FDA-approved as a neuroprotective implant for MacTel2, Vora said confirming the diagnosis before treatment carries new weight. He recommended reviewing years of old imaging when available, obtaining the full complement of angiography and autofluorescence, and requesting imaging from prior offices when a patient's history is incomplete. Earlier, more accurate diagnosis also matters for outcomes: per Vora, patients with less ellipsoid zone loss at the time of implantation tend to see a stronger treatment effect.

Vora added that no single finding—cystic change or an unusual vessel near the fovea—should be enough on its own to confirm MacTel2. "You just want to make sure you dot your i's and cross your t's when making the diagnosis," he said.