This review aimed to assess the clinical utility of genetic testing for individuals with infantile nystagmus syndrome. The authors define infantile nystagmus syndrome as having an onset before six months of age, binocular and conjugate. The literature search was conducted in a single database in October 2022. Limitations imposed included non-English language papers. The initial search identified 517 papers which were screened in a two-stage process, with a total of four papers identified as directly relevant to the research question. All included studies were rated as a low quality of evidence. Direct comparisons across studies were limited by the heterogeneity of the studies. Genetic testing influenced a change of diagnosis for similar proportions in three studies (20–30%). The authors highlight some limitations related to genetic testing. Despite these they conclude that genetic testing in cases of infantile nystagmus syndrome can support a clinical diagnosis or identify a condition which requires input from other specialties. Several recommendations of further research required are made including the examination of the clinical utility of whole genome sequencing in these cases. With further research and developments in genetic testing, it could become part of routine assessment for infantile nystagmus syndrome.
Infantile nystagmus syndrome and use of genetic testing
Reviewed by Lauren Hepworth
Genetic testing for infantile nystagmus syndrome with or without associated findings.
CONTRIBUTOR
Lauren R Hepworth
University of Liverpool; Honorary Stroke Specialist Clinical Orthoptist, Northern Care Alliance NHS Foundation Trust; St Helen’s and Knowsley NHS Foundation Trust, UK.
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