Infantile nystagmus syndrome: Promise and pitfalls of genetic testing

• 영문명: Infantile nystagmus syndrome: Promise and pitfalls of genetic testing
• 발행기관: 대한의학유전학회
• 저자명: Eun Hye Oh Jae-Hwan Choi
• 간행물 정보: 『대한의학유전학회지』제21권 제1호, 14~21쪽, 전체 8쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2024.06.30

국문 초록

Infantile nystagmus syndrome (INS) refers to congenital forms of nystagmus that are present at birth or during infancy. This syndrome may be caused by afferent visual system disorders or abnormal development of the ocular motor system. INS is a genetically heterogeneous disorder for which there are more than 100 causative genes. Since applying clinical tests for the differential diagnosis of INS can be challenging in early infancy and children, genetic testings such as next-generation sequencing are becoming more important for achieving accurate diagnoses. An improved understanding of the molecular mechanisms of INS may also lead to the development of gene-based therapies for INS. These advantages of genetic testing have the potential to change the diagnostic paradigm of patients with INS. However, the diagnostic pathway based on genetic testing still has several limitations in terms of the therapeutic effect and methodology. This review summarizes genetic and clinical features of INS, and discusses the promise and pitfalls of genetic testing in INS.

목차

Introduction

Idiopathic Infantile Nystagmus Syndrome

Infantile Nystagmus Syndrome Associated with Visual System Disorders

Promise and Pitfalls of Genetic Testing in Infantile Nystagmus Syndrome

Conclusion

Acknowledgements

Funding

Authors’ Contributions

References

키워드

Infantile nystagmus syndrome Nystagmus congenital Genetic testing Targeted gene panel sequencing