Serviço de Oftalmologia, Centro Hospitalar Universitário de Lisboa Central
- 61º Congresso Português de Oftalmologia, Vilamoura, Dezembro 2018 (Poster)
Introduction and objectives: The aim of this study is to report 2 cases of horizontal gaze palsy and progressive scoliosis (HGPPS). It is a rare autosomal recessive disorder caused by mutations in the ROBO3 gene. Its clinical presentation consists of impairment of conjugate horizontal eye movements together with a progressive scoliosis beginning in childhood. It has a characteristic imagiological feature of a butterfly-like bifid appearance on the brainstem.
Materials and methods: complete ophthalmologic, orthotic, orthopaedic and neurologic examination and cranio-encephalic magnetic resonance of 2 twin siblings from a non-consanguineous family from Fogo Island in Cape Verde.
Results: Both patients have absence of the conjugate horizontal eye movements, but convergence and vertical movements are maintained. Both have divergent strabismus and one of them also has a vertical strabismus and a congenital palpebral ptosis of the right eye. They have scoliosis beginning in childhood with rapid progression in the second decade of life. The magnetic resonance shows hypoplasia of the pons and a midline cleft of the brainstem, an enlarged fourth ventricle and absence of the facial colliculi.
Conclusion: Our study is one of the first to report cases of clinical and radiologic characteristics of HGPPS in patients from the Fogo Island in Cape Verde. In addition to the typical presentation of this syndrome, our patients presented divergent strabismus and one of them also presented an hypertropia and a congenital palpebral ptosis of the right eye.
Palavras Chave: Paralisia do olhar horizontal, escoliose, ROBO3