MacTel masquerades: How to spot what others miss

Macular telangiectasia (MacTel) is a bilateral retinal disease that often presents with subtle findings—and a list of conditions that can look remarkably similar, particularly early in the disease course. Jay Chhablani, MD, a retina specialist at the University of Pittsburgh Medical Center (UPMC) Vision Institute, Pittsburgh, Pennsylvania, spoke with Modern Retina^TM at the Retina World Congress 2026 in Fort Lauderdale, Florida, about the diagnostic challenges MacTel presents, the role of multimodal imaging, and the implications of a delayed or incorrect diagnosis now that treatment options are available.

▶ MacTel doesn't always look like MacTel. Watch Jay Chhablani, MD, break down the signs others miss — and why catching them early changes everything.

Note: Transcript edited for clarity and length.

What are some of the most common conditions that can masquerade as MacTel, and why can these cases be so diagnostically challenging?

Jay Chhablani, MD: MacTel is a very interesting disease that is usually bilateral, and it can present as very subtle findings for many of our patients. And there are many conditions that can actually masquerade as MacTel. One of the common ones that we see is the tamoxifen maculopathy. Sometimes a solar retinopathy can appear like that, or sometimes just a lamellar hole could also be seen as MacTel. Or one of the common diseases that we really want to differentiate would be age-related macular degeneration.

Why these diseases tend to be a little more difficult to differentiate is that in the early stage of the disease, the optical coherence tomography (OCT) findings, the imaging findings, or sometimes the clinical examination, also look pretty much similar. And that is where the role of multimodal imaging, as well as the history, comes in.

What imaging findings or clinical clues help distinguish true MacTel from other retinal diseases with overlapping features?

Chhablani: If your patient has exposure to tamoxifen and the findings show signs of degenerative cysts, then it goes more in favor of tamoxifen retinopathy. But if your scan or the clinical exam does show some signs of drusen, then definitely it makes the diagnosis of macular degeneration. But differentiating it from the neovascular stage of macular telangiectasia from neovascular age-related macular degeneration (AMD) is a very critical part.

Macular telangiectasia does have very specific OCT findings. Some of the OCT findings would be a very minimal inner hyperreflectivity. There could be a sign called ILM [internal limiting membrane] drape sign. There will be signs of neurodegenerative cysts. There will be signs of ellipsoid zone loss. But the more important thing here, I always say, is that if you have a cyst with retinal thinning, it goes in favor of macular telangiectasia. But if you have a cyst with retinal thickening, then it goes in favor of CME [cystoid macular edema] and associated causes for that. I think there are a few specific signs that you have to see on OCT, and that will push you to get more definitive angiography, which will make the confirmed diagnosis of MacTel.

How important is multimodal imaging in avoiding misdiagnosis and ensuring that patients receive appropriate management?

Chhablani: Multimodal imaging is becoming the backbone of our retina practice, particularly in difficult cases such as macular telangiectasia. When we really talk about multimodal imaging for macular telangiectasia, then certainly the fundus autofluorescence plays a role, which shows loss of central hypoautofluorescence at a very early stage of the disease. When you get on angiography, then angiography shows you parafoveal hyperfluorescence more on the temporal side of the fovea, but there will be a late hyperfluorescence all around. So these are some of the signs that are kind of very specific for macular telangiectasia.

And why it is important to use this multimodal imaging is that MacTel is a slowly progressing disease, but if you are missing a neovascular AMD or there are type 3 CNV [choroidal neovascularization], which is one of the common differentials for MacTel, if you are missing a type 3 CNV, which, if it is not treated appropriately or in a timely manner, then it can progress and cause vision loss or central involvement. And that is why using multimodal imaging helps us to make the diagnosis of some urgent differentials from MacTel.

When a patient has been misdiagnosed and is finally correctly identified as having MacTel, how does that change their management, and what is the real-world impact of a delayed or incorrect diagnosis on long-term visual outcomes?

Chhablani: So far, we did not have any treatment for macular telangiectasia, but today we have treatment for macular telangiectasia and the encapsulated cell therapy implant (Encelto; Neurotech Pharmaceuticals), which just got approved for these patients. So now it is more important that we diagnose these cases. And why do we diagnose early? Because the studies for this implant clearly showed that younger age group, lower ellipsoid zone loss patients tend to improve, tend to have better outcomes with this implant. So now we have to diagnose these patients early and then introduce the treatment options and prevent further photoreceptor loss.

What is 1 red flag clinicians should keep in mind when a presumed MacTel case doesn’t quite fit the expected pattern?

Chhablani: When you are following up a patient with MacTel, and usually MacTel is a very slowly progressive disease, patients are either mostly asymptomatic or have some central reading difficulty, central scotoma. But if your MacTel patient is coming for an urgent visit with a sudden change in vision, then I will definitely be looking for the formation of subretinal neovascularization, because that is a time when, you know, they start having an intraretinal hemorrhage, retinal thickening, and this can easily be treated with anti-VEGF injections. And that is a stage where you would like to diagnose the patient quickly and get them started on the treatment.

Jay Chhablani, MD

E: chhablanijk2@upmc.edu

Jay Chhablani, MD, is a retina specialist at the UPMC Vision Institute, Pittsburgh, Pennsylvania.