Genetic testing for infantile nystagmus syndrome with or without associated findings

Purpose To review the published literature assessing the clinical utility of genetic testing in individuals with infantile nystagmus syndrome (INS), defined as binocular conjugate nystagmus and onset prior to 6 months of age, with or without associated findings. Methods A literature search was last conducted in October 2022. The results were limited to articles published in English. The search yielded 517 abstracts, of which 72 papers were reviewed in full text. Of these papers, 4 met the criteria for inclusion and were graded by a study methodologist. Results The 4 studies that met inclusion criteria used next-generation sequencing with gene panels ranging from 31 to 336 genes. The overall molecular diagnostic rate ranged from 35% to 60% in the included studies, although the yield was higher when genetic testing was guided by clinical phenotyping (approximately 80%) and in the subsets of patients with a family history (up to 88%). As many as 30% of patients tested had a reclassification of the diagnosis based on the genetic testing results. Conclusions Genetic testing has the potential to provide a definitive diagnosis and identify treatable conditions in patients presenting with INS, especially when considered in conjunction with clinical phenotyping and family history. To review the published literature assessing the clinical utility of genetic testing in individuals with infantile nystagmus syndrome (INS), defined as binocular conjugate nystagmus and onset prior to 6 months of age, with or without associated findings. A literature search was last conducted in October 2022. The results were limited to articles published in English. The search yielded 517 abstracts, of which 72 papers were reviewed in full text. Of these papers, 4 met the criteria for inclusion and were graded by a study methodologist. The 4 studies that met inclusion criteria used next-generation sequencing with gene panels ranging from 31 to 336 genes. The overall molecular diagnostic rate ranged from 35% to 60% in the included studies, although the yield was higher when genetic testing was guided by clinical phenotyping (approximately 80%) and in the subsets of patients with a family history (up to 88%). As many as 30% of patients tested had a reclassification of the diagnosis based on the genetic testing results. Genetic testing has the potential to provide a definitive diagnosis and identify treatable conditions in patients presenting with INS, especially when considered in conjunction with clinical phenotyping and family history.