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Genetic analysis assists diagnosis of clinical systemic disease in children with excessive hyperopia
Shijin Wen1, Xiaoshan Min2, Ying Zhu1
1Eye Center of Xiangya Hospital, Hunan Key Laboratory of Ophthalmology, Central South University, Changsha, Hunan Province, China.
Insights
Genetic testing aids in diagnosing rare pediatric eye conditions like Senior-Loken syndrome-5 and posterior microphthalmos. It
Area of Science:
- Pediatric Ophthalmology
- Clinical Genetics
- Ocular Development
Background:
- Comprehensive eye examinations are crucial for children with excessive hyperopia and potential complications.
- Genetic testing offers a convenient and effective method for early differential diagnosis in pediatric eye disorders.
- Early diagnosis facilitates the identification of potential multi-systemic diseases associated with ocular conditions.
Observation:
- Two pediatric cases presented with bilateral excessive hyperopia (≥+10.00), severe amblyopia, and exotropia.
- A 3-year-old boy was diagnosed with Senior-Loken syndrome-5 (SLSN5).
- An 8-year-old boy was diagnosed with isolated posterior microphthalmos (MCOP6).
Findings:
- Genetic diagnosis confirmed SLSN5 and MCOP6 in the pediatric patients.
- Genetic testing proved valuable when direct cooperation for clinical examinations was limited.
- This highlights the utility of genetic analysis in complex pediatric eye cases.
Implications:
- Genetic testing is essential for accurate diagnosis and management of pediatric eye diseases.
- Early genetic identification can guide interventions for both ocular and systemic conditions.
- This approach supports timely treatment and improves long-term visual outcomes in children.
Background:
A thorough examination (especially those including visual functional evaluation) is very important in children's eye-development during clinical practice, when they encountered with unusual excessive hyperopia especially accompanied with other possible complications. Genetic testing would be beneficial for early differential diagnosis as blood sampling is more convenient than all other structural imaging capture tests or functional tests which need children to cooperate well. Thus genetic testing helps us to filter other possible multi-systemic diseases in children patients with eye disorder.
Case Presentation:
A 3-year-old and an 8-year-old boy, both Chinese children clinically manifested as bilateral excessive hyperopia (≥+10.00), severe amblyopia and exotropia, have been genetically diagnosed as Senior-Loken syndrome-5 (SLSN5) and isolated posterior microphthalmos (MCOP6), respectively.
Conclusions:
This report demonstrates the importance of genetic diagnosis before a clinical consult. When children are too young to cooperate with examinations, genetic testing is valuable for predicting other systemic diseases and eye-related development and for implementing early interventions for the disease.
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