Gene Therapy Advances for Paediatric Eye Disorders Highlighted

Paediatricians play a critical role in recognising and managing inherited eye disorders in children, which can cause significant vision impairment. Recent advances in ocular genetic therapy and clinical trials offer new hope for patients. A practical guide has been developed to help paediatricians navigate these conditions, including identifying common Mendelian paediatric eye conditions and their syndromic associations.

Key Takeaways:

• Paediatricians can capitalise on recent advances in ocular genetic therapy by recognising and referring children with inherited eye disorders for genetic testing.
• The review provides a practical guide for paediatricians on recognising genetic eye conditions in children, initiating appropriate investigations, and referring for genetic testing.
• Common Mendelian paediatric eye conditions discussed include those affecting the anterior and/or posterior segments.
• A suggested framework, including a flowchart, is included to help paediatricians recognise potentially inherited ocular conditions and recognising syndromic diagnoses.
• Genetic eye conditions are an important cause of ocular morbidity in children, and familiarity with these conditions is crucial for paediatricians.
• Gene therapy and clinical trials are progressing for both non-syndromic and syndromic ocular conditions, offering new treatment options.
• Genetic diagnosis provides information about inheritance, genetic counselling, and current gene therapy and clinical trials.
• The review aims to provide a practical approach for paediatricians to help navigate genetic eye conditions.
• Researchers emphasise the importance of paediatricians being familiar with genetic eye conditions in an era where genetic testing is increasingly being mainstreamed.

Statistics:

• 2025: The year in which the research was concluded.
• 244: The page number of the news report in Pediatrics Week.
• 111 River St, Hoboken 07030-5774, NJ, USA: The address of Wiley, the publisher of the Journal of Paediatrics and Child Health.

Sources:

• A Practical Guide to Genetic Eye Conditions for Paediatricians. Journal of Paediatrics and Child Health, 2025.
• NewsRx. Studies from Sydney Children's Hospitals Network Have Provided New Information about Gene Therapy (A Practical Guide to Genetic Eye Conditions for Paediatricians). Pediatrics Week. August 23, 2025; p 244.