Fundus autofluorescence (FAF) is a non-invasive retinal imaging technique that helps visualize naturally occurring fluorophores, such as lipofuscin, and provides valuable insight into retinal diseases—particularly inherited retinal diseases (IRDs). FAF is especially useful in detecting subclinical or early-stage IRDs and in monitoring disease progression over time. In Stargardt disease, areas of decreased autofluorescence correlate with disease progression and have been proposed as a biomarker for future clinical trials. FAF can also help differentiate Stargardt disease from other macular dystrophies. In retinitis pigmentosa, hyperautofluorescent rings are a common feature on FAF and serve as an important marker for disease monitoring, especially as changes align with those seen on other imaging modalities. FAF is valuable in tracking progression of choroideremia and may help identify disease carrier status. FAF has also improved the characterization of mitochondrial retinopathies such as maternally inherited diabetes and deafness. As a rapid and widely accessible imaging modality, FAF plays a critical role in both diagnosis and longitudinal care of patients with IRDs.

Gene therapy offers a promising new frontier in the treatment of inherited and acquired retinal disease. This review describes the current surgical delivery approaches for gene therapy to the retina—subretinal, suprachoroidal, and intravitreal—and provides an update on the state of the art for each method in 2025.

To report an atypical phenotype of autosomal recessive retinitis pigmentosa (RP) associated with variants in the Eyes Shut Homolog (EYS) gene. Case report A 53-year-old woman with a prior history of HIV controlled on HAART therapy presented with complaints of long-standing decreased vision and nyctalopia in both eyes. Visual acuity was light perception (LP) and 20/40 in the right and left eye, respectively. Examination disclosed an unremarkable anterior segment of both eyes. Dilated fundus exam revealed clear vitreous media, optic nerve pallor, vascular attenuation, peripheral retinal atrophy, old laser scars, and rare pigment migration bilaterally. In the right eye there was an evident tractional membrane along both arcades and significant subretinal exudation. OCT imaging showed chorioretinal atrophy in both eyes, and significant vitreoretinal traction in the right eye. A hyperautofluorescent ring was noted on fundus autofluorescence (FAF) of the left eye. An inherited retinal dystrophy was suspected, prompting genetic testing to be performed. Panel based testing revealed multiple EYS variants, namely c.2470T > C, c.3250A > C, c.4402G > C, and c.3443+1G > T. Phenotypic heterogeneity of EYS-associated RP can lead to a delay in diagnosis for atypical cases. A prior coats-like response may be considered in asymmetric cases exhibiting significant exudation or tractional bands.

Purpose: To evaluate features of infectious panuveitis associated with multiple pathogens detected by ocular fluid sampling. Methods: Single-center, retrospective, consecutive case series of patients with aqueous/vitreous polymerase chain reaction testing with >1 positive result in a single sample from 2001 to 2021. Results: Of 1,588 polymerase chain reaction samples, 28 (1.76%) were positive for two pathogens. Most common pathogens were cytomegalovirus (n = 16, 57.1%) and Epstein–Barr virus (n = 13, 46.4%), followed by varicella zoster virus (n = 8, 28.6%), Toxoplasma gondii (n = 6, 21.4%), herpes simplex virus 2 (n = 6, 21.4%), herpes simplex virus 1 (n = 6, 21.4%), and Toxocara (n = 1, 3.6%). Mean initial and final visual acuity (logarithm of the minimum angle of resolution) were 1.3 ± 0.9 (Snellen ∼20/400) and 1.3 ± 1.1 (Snellen ∼20/400), respectively. Cytomegalovirus-positive eyes (n = 16, 61.5%) had a mean final visual acuity of 0.94 ± 1.1 (Snellen ∼20/175), whereas cytomegalovirus-negative eyes (n = 10, 38%) had a final visual acuity of 1.82 ± 1.0 (Snellen ∼20/1,320) (P < 0.05). Main clinical features included intraocular inflammation (100%), retinal whitening (84.6%), immunosuppression (65.4%), retinal hemorrhage (38.5%), and retinal detachment (34.6%). Conclusion: Cytomegalovirus or Epstein–Barr virus were common unique pathogens identified in multi-PCR–positive samples. Most patients with co-infection were immunosuppressed with a high rate of retinal detachment and poor final visual acuity. Cytomegalovirus-positive eyes had better visual outcomes compared with cytomegalovirus-negative eyes.

Purpose of review: Inherited retinal diseases (IRDs) are genetically and phenotypically heterogeneous disorders that cause progressive vision loss and lack broadly effective disease-modifying therapies. Increasing evidence implicates metabolic stress, oxidative injury, and photoreceptor–retinal pigment epithelium (RPE) dysfunction in IRD pathophysiology. This review evaluates the evidence and limitations surrounding nutritional and metabolic interventions for retinitis pigmentosa and Stargardt disease. A narrative review of preclinical studies, randomized controlled trials, and contemporary genetic re-analyses was performed. Nutritional interventions reviewed include vitamin A, vitamin E, N-acetylcysteine (NAC), omega-3 fatty acids (docosahexaenoic acid), carotenoids and apocarotenoids, and the deuterated vitamin A analog C20-D3-retinyl acetate (ALK-001). Recent findings: Initial studies suggesting a protective effect of vitamin A in retinitis pigmentosa were not confirmed in subsequent trials or genetic re-analyses, which identified baseline differences between groups as a possible contributor to the original findings. In contrast, supplemental vitamin E may accelerate disease progression. NAC demonstrated acceptable tolerability and modest short-term improvements in visual function in early-phase trials, with a phase 3 study ongoing. Omega-3 fatty acids, carotenoids, and apocarotenoids have not shown consistent clinically meaningful benefit in retinitis pigmentosa or Stargardt disease despite strong mechanistic rationale. In Stargardt disease, ALK-001 reduces lipofuscin accumulation in animal models and clinical trials are ongoing to assess efficacy in patients. Summary: Most nutritional supplements studied to date have not demonstrated durable or clinically meaningful benefit in IRDs. Vitamin A supplementation in retinitis pigmentosa is no longer supported by current evidence, while NAC remains a promising metabolic therapy under investigation. High-quality, genotype-informed clinical trials with clinically relevant endpoints are needed before nutritional interventions can be incorporated into IRD management guidelines.

The prevalence of wet age-related macular degeneration (AMD) in the US is expected to increase to 82 million by 2050. Addressing the specialized needs for this population will become increasingly challenging as prevalence rises. Frequent anti-vascular endothelial growth factor (anti-VEGF) injections have been the recourse for this population; however, the burden wet AMD places on patients underscores the critical need for durable therapeutic approaches. Gene therapy is a bioengineered treatment that has transformed the management of previously untreatable disorders. Ongoing advancements and refinements in its biomechanism could lead to more sustainable treatment options for wet AMD. In this article, we provide recent updates on gene therapy trials for wet AMD.