Prospective study of pediatric patients presenting with idiopathic infantile nystagmus-Management and molecular diagnostics
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Nancy Aychoua Elena Schiff Samantha Malka Vijay K Tailor Hwei Wuen Chan Ngozi Oluonye Maria Theodorou Mariya MoosajeeAbstract
Idiopathic infantile nystagmus (IIN) is an inherited disorder occurring in the first 6 months of life, with no underlying retinal or neurological etiologies and is predominantly caused by mutations in the FRMD7 gene. IIN poses a diagnostic challenge as underlying pre-symptomatic "multisystem" disorders varying from benign to life-threatening should first be ruled out before nystagmus can be labeled as idiopathic. A multidisciplinary approach including multimodal ocular investigations and next-generation sequencing with whole-genome sequencing (WGS) or targeted gene panel testing is required to delineate the exact etiology. We report the clinical and genetic outcomes of 22 patients, from 22 unrelated families of diverse ethnicities, with IIN seen in the ocular genetics service at Moorfields Eye Hospital NHS Foundation Trust between 2016 and 2022. Thirty-six percent (8/22) received a confirmed molecular diagnosis with eight mutations identified in two genes (seven in FRMD7 including one novel variant c.706_707del; p. [Lys236Alafs*66], and one in GPR143). This study expands the mutational spectrum of IIN and highlights the significant role of an integrated care pathway and broader panel testing in excluding underlying pathologies.
Journal details
Journal Frontiers in Genetics
Volume 13
Pages 977806
Available online
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Publisher website (DOI) 10.3389/fgene.2022.977806
Europe PubMed Central 36072665
Pubmed 36072665
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