"Most cases (90%) are sporadic, however, a minority of cases may have a genetic bases 5. Pathogenic variants in the CHN1, MAFB, or SALL4 genes have been implicated in inherited forms 5. Syndromic associations are also present, as aforementioned."
"Hypoplasia of other extra-ocular muscles have been described, depending on the type of the disease, especially the superior oblique muscle (types I and II) 3."
Expected headings
"Associations"