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A Practical Guide to Genetic Eye Conditions for Paediatricians
Richard Lin1,2, Alan Ma1,2,3, Benjamin M Nash2,3,4
1Department of Clinical Genetics, Western Sydney Genetics Program, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia.
Insights
Paediatricians can identify inherited eye conditions, which are a common cause of childhood vision impairment. Early recognition and genetic testing are crucial for accessing new genetic therapies and clinical trials.
Area of Science:
- Ophthalmology
- Genetics
- Paediatrics
Background:
- Inherited eye disorders are a significant cause of paediatric vision impairment, often associated with syndromes and congenital anomalies.
- Paediatricians play a key role in identifying these conditions and facilitating genetic testing.
- Timely diagnosis enables access to emerging genetic therapies and clinical trials.
Purpose of the Study:
- To provide paediatricians with a practical guide for recognizing genetic eye conditions in children.
- To outline appropriate investigations and referral pathways for genetic testing.
- To discuss the implications of genetic diagnosis, including inheritance, counseling, and current therapeutic advancements.
Main Methods:
- Review of common Mendelian paediatric eye conditions and syndromic associations affecting anterior and posterior eye segments.
- Inclusion of a framework and flowchart for identifying inherited ocular conditions and syndromic diagnoses.
- Discussion on the utility of genetic diagnosis, inheritance patterns, genetic counseling, and gene therapy trials.
Main Results:
- Inherited eye conditions are a major cause of childhood ocular morbidity, presenting as isolated or syndromic disorders.
- A practical approach is presented to aid paediatricians in managing these complex cases.
- Familiarity with genetic eye conditions is increasingly important due to mainstreaming of genetic testing and gene therapy availability.
Conclusions:
- Genetic eye conditions represent a critical area of paediatric ophthalmology.
- Early identification and appropriate management are essential for improving patient outcomes.
- This review equips paediatricians with the knowledge to navigate the diagnosis and treatment of inherited eye disorders.
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.
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