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We propose that oculomotor anomalies, including DRS, could be related to proximal 1p36 deletion, warranting a detailed ophthalmologic evaluation of these patients. The HES3 gene is located at 1p36.31 and could be associated with oculomotor alterations, including DRS, since this gene is involved in the development of the 3rd cranial nerve and the 6th cranial nerve's nucleus. DRS is one of the Congenital Cranial Dysinnervation Disorders, and a genetic basis for the syndrome has been extensively reported. Our patient displayed DRS, which is not part of the classical phenotype and is not a common clinical feature in 1p36 deletion syndrome we hypothesized that this could be associated with the overlapping deletion between the distal and proximal 1p36 regions.

Array CGH showed a 7.2 Mb de novo deletion from 1p36.31 to 1p36.21. We describe a patient with intellectual disability, facial dysmorphism, and bilateral Duane retraction syndrome (DRS) type 1. However, as of today only one patient with 1p36 deletion and Duane retraction syndrome (DRS) has been reported. Ocular manifestations in patients with classical 1p36 monosomy are frequent and include strabismus, myopia, hypermetropia, and nystagmus.

In patients with proximal deletions, little is known about the associated phenotype, since only a few cases have been reported in the literature. It is characterized by intellectual disability, growth retardation, seizures, congenital anomalies, and distinctive facial features that are absent when the deletion is proximal, beyond the 1p36.32 region. Monosomy of 1p36 is considered the most common terminal microdeletion syndrome.

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