Inherited Eye Conditions: Supporting Families in Trials and Treatments

Presently, many inherited eye conditions, including inherited retinal diseases (IRDs) and inherited optic neuropathies, do not yet have a cure. However, this does not mean there is nothing that can be done, and there remains much that can be offered in terms of care and support. If available, care should be guided by condition-specific management guidelines tailored to each inherited eye condition.^1,2 Management should focus on preserving and optimising residual vision wherever possible, supporting the child’s visual development, and ensuring timely access to low-vision rehabilitation, educational support, assistive technologies, and psychosocial support for both the child and their family. 

Research has suggested that condition-specific and broader support groups can be highly valuable and may be beneficial across all types of inherited eye conditions. These groups provide opportunities for shared lived experience and emotional support, connecting families with others who understand the challenges of living with a rare eye condition.³ 

For some specific IRDs and inherited optic neuropathies, new therapies, clinical trials and research are now emerging, reflecting a rapidly evolving and exciting area of ophthalmology

On the Horizon 

New therapies, clinical trials, and research are now emerging for some specific IRDs and inherited optic neuropathies, reflecting a rapidly evolving and exciting area of ophthalmology.^4-6 They are primarily aiming to slow or stabilise vision loss, and in some cases improve residual visual function, depending on the specific condition and stage of disease. For many families, this progress offers meaningful hope for the future. 

For example, Luxturna (voretigene neparvovec) was approved by the Australian Therapeutic Goods Administration (TGA) in 2020 as the first commercially available gene therapy for patients with biallelic RPE65-associated inherited retinal dystrophy.⁷ A systematic review and meta-analysis by Li and colleagues,⁸ found that Luxturna therapy significantly improved retinal light sensitivity, with a 2.2 log10cd.s.m-2 unit improvement in full-field stimulus threshold, alongside modest improvements in visual acuity. The review also identified chorioretinal atrophy as a notable post-treatment complication, highlighting the need for continued long-term safety monitoring. Luxturna has been offered through specialised services, including the Royal Victorian Eye and Ear Hospital in Victoria and Sydney Eye Hospital in New South Wales, providing multidisciplinary assessment, genetic confirmation, surgical administration, and follow-up for eligible patients. 

Another notable development is Tinlarebant for ABCA4-related retinal disease. In the Phase 3 DRAGON trial involving participants aged 12–20 years, Tinlarebant reduced retinal lesion growth assessed by fundus autofluorescence imaging by 36% compared with placebo over 24 months (p=0.0033). Based on these findings, Belite Bio has submitted a New Drug Application to the United States Food and Drug Administration for review.⁹ 

In addition, the Phase 1/2 SLO-RP NPI-001 trial (NCT04355689), sponsored by Nacuity Pharmaceuticals, evaluated N-acetylcysteine amide (NACA), an antioxidant therapy designed to reduce oxidative stress and potentially slow photoreceptor degeneration in people with Usher syndrome.¹⁰ Conducted at clinical sites in Australia, the trial demonstrated encouraging safety and efficacy findings, supporting further evaluation. The Phase 3 NAC Attack trial (NCT05537220) is evaluating oral N-acetylcysteine (NAC) as a potential disease-modifying therapy for retinitis pigmentosa.¹¹  

Gene therapy trials targeting the MT-ND4 m.11778G>A variant, the most common cause of Leber hereditary optic neuropathy (LHON), are investigating whether delivery of a functional ND4 gene can improve mitochondrial function and vision.6 Another emerging approach is PYC-001, an investigational RNA-based antisense oligonucleotide therapy for OPA1-related autosomal dominant optic atrophy.¹² The Phase 1b Myrtle study (NCT06970106) is evaluating its potential to improve mitochondrial function and slow vision loss, with recruitment underway at clinical sites in Australia (Melbourne and Sydney) and New Zealand (Auckland).¹³ 

While these therapies remain in clinical trial stage, they represent important advances in the search for treatments in IRDs and inherited optic neuropathies.  

Research and clinical trials have improved understanding of disease progression and genotype–phenotype correlations, while providing families with opportunities to contribute to future advances. Access to multidisciplinary genetic eye clinics and research registries is important to support families with information about genetic testing, counselling, emerging research, and potential future treatments. This represents a significant shift from earlier times, when there were few available options to influence the course of vision loss, and families were often told that vision loss and eventual blindness were inevitable, often with minimal ongoing support or follow-up after diagnosis. 

Eligibility for Research and Clinical Trials 

Eligibility for clinical trials is carefully determined and often depends on factors such as the specific disease-causing genetic variant. While this allows targeted therapies to be evaluated, families with rare or less well-characterised genetic variants may have fewer opportunities to participate in studies, which often focus on more common variants. 

Children in Research and Clinical Trials 

Paediatric patients are often strongly influenced by age-related eligibility criteria in clinical trials, reflecting the need for additional ethical safeguards due to their developmental stage and increased vulnerability. 

The presence of sufficient residual retinal or optic nerve cells is also essential, as treatment depends on there being viable cells that can respond to the treatment. In addition, the level and pattern of remaining vision help guide whether a person is likely to benefit, with most trials focusing on a specific window of disease stage. For some, earlier-stage disease, such as in children, may be associated with greater optimism as new studies emerge. 

Barriers to Participation  

Even when vision-related and genetic eligibility criteria are met, other systemic medical conditions, including some that may not have been previously recognised, can still influence eligibility and, in some cases, prevent participation.  

Although some clinical trials are available locally, many are conducted at limited specialist centres interstate or overseas. This can create barriers including travel, accommodation, time away from work or school, and additional costs, which may limit participation and contribute to inequities in access. While some trials or organisations provide financial and logistical support, this is not always available or sufficient to offset these challenges. 

Emotional Impact and Expectations 

For families, decisions about treatment or clinical trial participation can be complex and emotional. When a child is not eligible, this can be deeply disappointing, particularly after developing hope around a potential therapeutic opportunity. 

Clinicians can support families by discussing the possibility of trial ineligibility early and with sensitivity, before hope becomes closely linked to a specific treatment opportunity. Explaining that eligibility criteria are a normal and necessary part of research can help families feel informed, supported, and prepared if a trial is not an option for them. 

It is also important to provide families with reassurance and ongoing guidance. Importantly, ineligibility at a given point in time does not imply that no options are available, nor does it preclude future opportunities. This is a rapidly evolving field, and ongoing research continues to expand the range of potential trials and/or therapies over time. 

Furthermore, sharing of research updates within patient and consumer groups can raise awareness of emerging therapies, but in some instances pre-clinical laboratory results are misinterpreted as evidence of imminent treatment availability. This may generate community-wide optimism but may also lead to disappointment when the early nature of the findings and the time required for clinical translation become clearer. 

A clear example of the hope–disappointment cycle is the media coverage of the commercially available gene therapy for RPE65-related retinal dystrophy/Leber congenital amaurosis (LCA). Some individuals with LHON may have understandably interpreted these advances as relevant to their condition due to the shared ‘Leber’ name. However, these are separate conditions with different genetic causes and inheritance patterns. This highlights the importance of clear communication regarding the specific conditions to which a treatment applies. 

Acknowledging the emotional weight of these decisions is essential, as families make choices on behalf of their child while hoping for the best possible outcome

Supporting Informed Decision Making 

Should a child be eligible, careful counselling is essential to ensure families are fully supported in making informed decisions. This involves providing clear, honest information about the purpose of the trial, the specific phase of development, and the important distinction between research and established treatment. Clinicians need to carefully explain both the potential benefits and the uncertainties, including the possibility of limited or no individual vision improvement and the presence of unknown or evolving risks, particularly in early-phase studies where the primary focus is often safety and efficacy. Acknowledging the emotional weight of these decisions is essential, as families make choices on behalf of their child while hoping for the best possible outcome. Discussions should always remain centred on the child’s best interests. 

Lived Experiences Informing Research 

The future of inherited eye conditions is shaped not only by scientific and clinical advances, but also by the voices, lived experiences, and ongoing partnership of children and families affected by these conditions. Their perspectives help to inform research priorities, improve the design and delivery of clinical trials, and ensure that care remains meaningful and patient centred.¹⁴ By working together, clinicians, researchers, and families contribute to a shared goal of improving outcomes, enhancing quality of life, and advancing understanding in a way that reflects real-world patient needs.  

Compassionate care, clear and honest communication, and ongoing support are fundamental to helping families navigate uncertainty, make informed decisions, and sustain hope

Where There is Hope 

Hope and disappointment are an inherent part of the evolving landscape of inherited eye disease research. New discoveries and clinical trials bring great optimism but may also be accompanied by uncertainty related to eligibility, disease stage, and access. Although this can be emotionally challenging for families, every clinical trial, regardless of its outcome, advances scientific knowledge and brings the field closer to future therapies. 

Throughout this journey, timely access to low-vision rehabilitation, psychosocial support, and multidisciplinary care remains essential. As research and clinical trials continue to advance, the role of clinicians extends beyond providing access to emerging therapies. Compassionate care, clear and honest communication, and ongoing support are fundamental to helping families navigate uncertainty, make informed decisions, and sustain hope while acknowledging the realities of an evolving field of ophthalmic research.  

Lisa S Kearns BOrtho&OphthSci (Hons) GradDipGenCouns is a research genetic counsellor and orthoptist at the Centre for Eye Research Australia. She also practises as a senior orthoptist and clinic coordinator in the Ocular Diagnostic and Ocular Genetics Clinic at The Royal Victorian Eye and Ear Hospital.  

References  

1. Royal Australian and New Zealand College of Ophthalmologists. Guidelines for the assessment and management of patients with inherited retinal degenerations (IRD). Available at RANZCO-Guidelines-for-the-assessment-and-management-of-patients-with-inherited-retinal-diseases-IRD.pdf [accessed Aug 2026].
2. Sue CM, Balasubramaniam S, Wools C, et al. Patient care standards for primary mitochondrial disease in Australia:anAustralian adaptation of the Mitochondrial Medicine Society recommendations. Intern Med J. 2022 Jan;52(1):110-120. doi: 10.1111/imj.15505. 
3. Johansen L, O’Hare F, Galvin KL, et al. Exploring the support needs of Australian parents of young children with Usher Syndrome: a qualitative thematic analysis. Orphanet J Rare Dis. 2024;19(1):129.doi: 10.1186/s13023-024-03125-w.
4. Gómez-Escribano AP, García-García G, Millán-Salvador JM,et al. Innovative therapies for inherited retinal dystrophies: navigating DNA, RNA, and protein approaches. EBioMedicine. 2025;116:105751. doi: 10.1016/j.ebiom.2025.105751. 
5. Georgiou M, Robson AG, Michaelides M, et al. Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunctionsyndromes.ProgRetin Eye Res. 2024 May;100:101244. doi: 10.1016/j.preteyeres.2024.101244. 
6. Wong DCS, Makam R, Yu-Wai-Man P. Advanced therapies for inherited optic neuropathies. Eye (Lond). 2026;40(2):177-184. doi: 10.1038/s41433-025-04109-1.
7. Medical Services Advisory Committee. Application 1623 –Voretigeneneparvovec (Luxturna) for the treatment of biallelic RPE-65-mediated inherited retinal dystrophies. Australian Government; 2020. Available at: msac.gov.au/applications/1623 [accessed Aug 2026]. 
8. Li JXL, Rowson AC, Simunovic MP, et al.Post-approvaloutcomes of voretigene neparvovec (Luxturna) retinal gene therapy: A systematic review and meta-analysis. Surv Ophthalmol. 2026 Jul 9:S0039-6257(26)00091-3. doi: 10.1016/j.survophthal.2026.07.001. 
9. Belite Bio, Inc. New hope for people living with a disease oncedeemeduntreatable: Belite Bio announces positive topline results from the pivotal global, Phase 3 DRAGON trial of tinlarebant in adolescents with Stargardt disease [Internet]. San Diego (CA): Belite Bio, Inc.; 2025 Dec 1. Available at investors.belitebio.com/news-releases/news-release-details/new-hope-people-living-disease-once-deemed-untreatable-belite [accessed Aug 2026]. 
10. Foundation Fighting Blindness.Nacuity’santioxidative therapy NACA performs encouragingly in Phase 1/2 clinical trial. 12 Sept 2025. Available at: fightingblindness.org/news/nacuity-s-antioxidative-therapy-naca-performs-encouragingly-in-phase-1-2-clinical-trial-2785 [accessed July 2026]. 
11. Kong X, Ibukun F, Campochiaro PA, et al; NAC Attack Study Investigative Group. Protocol for NAC Attack, a phase-3,multicenterrandomized, parallel, double masked, placebo controlled trial evaluating the efficacy and safety of oral N-acetylcysteine (NAC) in patients with retinitis pigmentosa. medRxiv [Preprint]. 2025 Nov 6:2025.11.05.25339486. doi: 10.1101/2025.11.05.25339486. 
12. PYC Therapeutics. Autosomal dominant optic atrophy (webpage). Available at: pyctx.com/autosomal-dominant-optic-atrophy/ [accessed July 2026].
13. Cerulea Clinical Trials. Myrtle. Available at: ceruleaclinicaltrials.org.au/trials/myrtle [accessed July 2026].
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