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Clinical

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Clinical Focus

Researchers will investigate a gene in the eye that is crucial for normal vision, but can cause retinal diseases when mutated that often lead to blindness.

University of Houston researchers receive $3.6 million to examine retinal diseases

Beacon Therapeutics shares promising phase 2 trial results for laru-zova, a gene therapy showing potential in treating X-linked retinitis pigmentosa.

Beacon Therapeutics announces positive topline data from DAWN and SKYLINE trials

Alfredo Sadun, MD, PhD, details an unexpected outcome from a gene therapy in development for Leber hereditary optic neuropathy (LHON).

New insights show “later is better” for some LHON interventions

MCO-010 receives Orphan and RMAT designations, highlighting its potential as a groundbreaking therapy for various retinal dystrophies.

EMA grants Orphan designations to MCO-010, FDA grants RMAT in Stargardt disease

From bench to bedside: Evolving realities of gene therapy for inherited retinal diseases

EURETINA 2025: Sofia Androudi on retinal disorders mimicking inherited retinal diseases

Note: The following transcript has been lightly edited for clarity.

 Good morning. My name is Sofia Androudi, and I'm professor and head of the University Eye Clinic in Thessaloniki, Greece. The topic of my talk today is retinal disorders mimicking inherited retinal diseases. Inherited retinal diseases is the most frequent cause of visual loss in people of working age. They affect 2.5 million of people globally, and as you can expect, they have a significant impact in quality of life and income loss. But the thing is that inherited retinal diseases patients get a diagnosis based on clinical phenotype alone, and we're talking about very heterogeneous disease. For instance, a retinitis pigmentosa can look like Leber congenital amaurosis. But on the other hand, there are retinal diseases, acquired diseases that can look like inherited retinal diseases. 

We're entering the era of cell and gene therapies, and it's very important to have a correct diagnosis, so the patient can get the appropriate treatment or does not get mistreated. To reach this diagnosis, you we need to have a high index of suspicion. We need to look at the unilateral versus bilateral. For example, if the disease is unilateral, we shift away from the IRD. We have to take a detailed medical and clinical history and ophthalmic history. For instance, when did the symptoms start? Are there any other family members affected? We have to take good quality multimodal imaging, and don't forget the electrophysiology. Where we are going from now with the artificial intelligence, the registries, and the advanced imaging, yes, we can refine our diagnostic algorithms, but at the end of the day, it's the multi-disciplinary approach and collaboration and the clinical hands that are our best tools.

Yes. So if you have a case that you are on the fence on, then you have to refresh and restart and think the case from the start. And don't forget to ask for help, ask other colleagues. You are a retina specialist, ask the uveitis specialist, get the genetic testing big and do perform high-quality, multi-modal imaging that you are going to look at yourself. Don't wait for the technician to bring you a print out, but go-to the machine, to the OCT and scroll frame-by-frame to look [for] what you're missing. And don't forget the autofluorescence.

Videos

Prof. Androudi said differential diagnoses are more important than ever in the era of cell and gene therapies.

Victor Gonzalez, MD, speaks about his Clinical Trials at the Summit presentation, focusing on retinitis pigmentosa therapy MCO-010 (Nanoscope Therapeutics)

Ahead of the Clinical Trials at the Summit (CTS) meeting in Las Vegas, Nevada, Victor Gonzalez, MD, shared an overview of his presentation. Dr. Gonzalez is a trial investigator in the REMAIN follow-up study, assessing 126-week outcomes from MCO-010 (Nanoscope Therapeutics), an optogenetic therapy for vision restoration in patients with retinitis pigmentosa. During the CTS session on inherited retinal diseases, Dr. Gonzalez provided information on the multi-characteristic opsin (MCO) which aims to re-sensitize photoreceptors in the retina. 

 and Orphan Drug designations to the ambient-light activatable MCO optogenetic monotherapy.

"Ophthalmology has had very important improvements and advances in the way we treat diseases...We're great at trying to stabilize; rarely can we recover," Dr. Gonzalez told 

"I think the big step forward is going to be restoration of vision in patients. We've taken huge strides forward in slowing down or stopping a disease process, but we have not had the ability to recover what's been lost. The next frontier, the next step forward, is to have a way to restore vision, whether it's genetics, whether it's stem cell gene therapy. We're going to have an incredible armamentarium to be able to do exactly what I just described...We're at an important crossroads."

One particularly promising characteristic of the therapeutic candidate is its applicability in varying pathogeneses of retinitis pigmentosa. "[MCO-010] is agnostic to the genetic cause, so it can be used for any cause of retinitis pigmentosa," he said. This could indicate efficacy in treating other inherited retinal diseases, he added. "[And] it does not require photoreceptors to be present, so for that reason, you can treat very severe, advanced disease."

In this video interview, Dr. Gonzalez details the next big shift in ophthalmology, characterized by vision restoration and structural reactivation.

Dr. Gonzalez shares 126-week topline results from the REMAIN study, assessing optogenetic therapy MCO-010 (Nanoscope Therapeutics).

Victor Gonzalez, MD, shares research findings on vision restoration in patients with retinitis pigmentosa 

Jennifer Lim, MD, FARVO, FASRS, from the University of Illinois at Chicago, discussed her ARVO presentation on sickle cell retinopathy. She highlighted improvements in retinal surgery techniques and instrumentation.

Joining the Eye Care Network in Salt Lake City, Jennifer Lim, MD, FARVO, FASRS, discussed her Association for Research in Vision and Ophthalmology (ARVO) presentation on sickle cell retinopathy. "We know that sickle cell retinopathy is fraught with complications when proliferative sickle cell stages develop, such as vitreous hemorrhage or retinal detachment," she said. "Unfortunately, when we do surgery for that frequently, we can get complications which include high rates of retinal tears as well as recurrent retinal detachments."

Fortunately, improvements in retinal surgery techniques and instrumentation have increased the fixability of retinal detachments: success rates for these repairs have increased from 50% to nearly all cases.

"We performed a retrospective study where we reviewed all patients with sickle cell retinopathy in the electronic health record, and we found that there were approximately 25 patients of 208 who had surgical indications," she said. "However, we excluded some patients who did not have at least 6 months of follow up or had some missing data. We, therefore, were left with 21 patients, which included 23 eyes."

The vast majority of these patients had either hemoglobin SC or hemoglobin SS subtypes of sickle cell disease. "We found that for patients who had non retinal detachment indications for surgery, that the vast majority of these patients had improvements in vision and had good anatomic outcomes for the patients who had non retinal detachment indications," said Dr. Lim, citing that 90% of patients had significant improvements in visual acuity outcomes. "For the patients who had retinal detachment indications, 13 eyes, the vast majority of these patients also had improved or stable visual acuity outcomes," she added.

Lim also emphasized the importance of early intervention with laser treatment to prevent vision loss and stressed the need for regular screening. To hear more about the study findings, and the clinical implications, watch the full video.

Jennifer Lim, MD, FARVO, FASRS, discusses her ARVO presentation on sickle cell retinopathy, highlighting improvements in retinal surgery techniques and instrumentation.

Inherited Retinal Diseases

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