Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Concise Synopsis from the Ophthalmologist’s Perspective
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Abstract
The aim of this article is to provide a concise synopsis of Horizontal Gaze Palsy and Progressive Scoliosis syndrome and give the ophthalmologist’s perspective.
Horizontal Gaze Palsy and Progressive Scoliosis is a rare autosomal recessive genetic condition. It has been described in both consanguineous and non-consanguineous families. It is caused by mutations in the round-about guidance receptor 3 (ROBO3) gene. Based on our literature review, to date, roughly 100 patients with this rare syndrome and 55 round-about guidance receptor 3 gene mutations have been reported. The age of onset of symptoms varies from 2 months up to 60 years, but usually start in early childhood. Musculoskeletal symptoms include scoliosis and difficulties with posturing. Mental retardation and global developmental delay may also ensue. Ophthalmological manifestations include convergent squint, pendular nystagmus and horizontal gaze palsy. Vertical and convergence eye movements are preserved. Lid position, pupillary reflexes and fundus examination are usually normal as well. Brain neuroimaging reveals striking radiological findings, including brainstem hypoplasia with an anterior and dorsal pontine cleft and a butterfly shaped medulla and absence of the normal promontories of the facial colliculi.
To date, there is no definitive treatment of this condition. Convergent squint can be corrected with prisms or surgery. Spectacles are used to correct any significant refractive error. Patching or atropine drops can be used for the treatment of amblyopia.
This rare syndrome is a systemic condition that requires a multidisciplinary team to treat the patients with a holistic approach, address their needs and alleviate the emotional burden. It should always be included in the differential diagnosis in patients who present with skeletal anomalies and ocular motility disorders.
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