Inherited Retinal Diseases

Danon disease is a rare, multisystem X-linked genetic disorder caused by variants in the LAMP2 gene. In children and young adults, it is defined overwhelmingly by its cardiac effects . What is far less appreciated is that the eye is frequently involved and that the retinal findings can appear before the systemic diagnosis is established.

Rare retinal diseases initially were the primary targets of gene therapy, but that is no longer the case. The focus has expanded beyond those to also include more common, chronic diseases such as diabetic macular edema and wet age-related macular degeneration. During the first half of 2026, that trend was evident.

Cynthia Toth, MD, of Duke University, discusses new BabySTEPS research showing that retinal nerve fiber layer and choroidal thickness on OCT correlate with 2-year neurodevelopmental outcomes in preterm infants and what it will take to bring bedside screening into routine NICU care.

How this gene-agnostic optogenetic approach could fill a critical gap for advanced inherited retinal degeneration.

Alkeus Pharmaceuticals has dosed the first participant in the phase 3 NORTHSTAR trial of oral gildeuretinol for Stargardt disease, a condition with no approved treatments.

Swiss regulator backs tinlarebant for Stargardt as DRAGON phase 3 shows slower retinal atrophy, bringing first treatment closer to patients.

Data presented at ARVO 2026 show that high-dose gene therapy boosts central retinal sensitivity in X-linked retinitis pigmentosa, with the phase 3 VISTA study fully enrolled.

According to the company, the NDA submission is supported by data from the phase 3 DRAGON trial.

The ongoing GARDian3 study is designed to assess whether a single subretinal administration of OCU410ST can slow structural disease progression in patients with ABCA4-associated retinopathy.

FDA fast-tracks RTx-015, an optogenetic gene therapy aiming to restore vision in late-stage retinitis pigmentosa.

Aflibercept briefly reverses severe ROP in tiny preemies, yet nearly half relapse within weeks—prompting laser rescue and renewed safety questions.

New MLSDT functional vision test tracks advanced retinitis pigmentosa better than acuity, supporting future gene and optogenetic therapy endpoints.

The Part B dose-expansion portion is evaluating SB-007 for the treatment of Stargardt disease.

Dr. Quan Dong Nguyen presents interim data from the phase 3 DRAGON study on a potential first therapy for adolescent Stargardt disease.

Combining imaging and patient symptoms improves assessment of disease progression.

Dr. J. Peter Campbell discusses the technologies shaping retinopathy of prematurity detection, clinical integration, and global implementation.

According to the company, this is the first and only single-use kit on the market that includes the diagnostic lens.

Both therapeutics will leverage AGC Biologics’ BravoAAV suspension platform and use an innovative dual AAV vector approach, which splits the therapeutic gene into 2 halves.

RUSH2A is an ongoing natural history study for patients with mutations in the USH2A gene causing Usher syndrome type 2A or nonsyndromic retinitis pigmentosa (RP).

Best disease, also known as vitelliform macular dystrophy, is a rare, inherited retinal condition causing macular degeneration by mutations in the BEST1 gene, leading to progressive vision loss and potentially blindness.

Kenneth C. Fan, MD, discusses promising visual improvements from MCO-010 therapy for Stargardt disease at AAO 2025, highlighting future treatment potential.

OPGx-LCA5 is designed to address a form of Leber congenital amaurosis that results from biallelic mutations in the LCA5 gene, which encodes the lebercilin protein, the investigators explained.

PolyActiva and RareSight collaborate to create innovative therapies for rare pediatric retinal diseases, aiming to transform treatment and improve children's vision.

Stephen Tsang, MD, PhD, reviews promising optogenetic therapy results for retinitis pigmentosa and Stargardt disease, enhancing vision and mobility for patients.

The EXTEND study is a 5-year follow-up of participants who received a single intravitreal injection of MCO-010 in a previously conducted phase 1/2a trial.