A Practical Guide to Genetic Eye Conditions for Paediatricians

Introduction

Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders. Paediatricians are well placed to recognise ocular disorders and syndromic associations, and help facilitate appropriate investigations and referrals, including genetic testing. Timely recognition of these conditions may allow patients to capitalise on the recent advances in ocular genetic therapy and clinical trials which are progressing for both non-syndromic and syndromic ocular conditions.

Aims

This review provides a practical guide for paediatricians on recognising genetic eye conditions in children, initiating appropriate investigations, and referring for genetic testing.

Methods

An overview of the most common Mendelian paediatric eye conditions and their syndromic associations is provided, encompassing disorders which affect the anterior and/or posterior segments. A suggested framework including a flowchart for recognising potentially inherited ocular conditions and recognising syndromic diagnoses is included. Finally, a discussion regarding the utility of a genetic diagnosis, including information about inheritance, genetic counselling, and current gene therapy and clinical trials is provided.

Conclusion

Genetic eye conditions are an important cause of ocular morbidity in children. These conditions may be isolated to the eye or have multisystem syndromic associations. Additionally, in an era where genetic testing is increasingly being mainstreamed and given the availability of gene therapy, it is relevant for paediatricians to be familiar with genetic eye conditions. This review provides a practical approach for paediatricians to help navigate these conditions.