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1.
J AAPOS ; 28(1): 103822, 2024 02.
Article in English | MEDLINE | ID: mdl-38272175

ABSTRACT

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive condition characterized by absence of abduction and adduction movements with intact vertical eye movements and progressive scoliosis. Patients usually present by mid-childhood with complaints of progressive scoliosis. The clinical diagnosis of HGPPS can be further confirmed by the ROBO3 gene mutation on chromosome number 11. We present 2 Indian siblings who were incidentally diagnosed with HGPPS with synergistic convergence on regular eye examination; diagnosis was confirmed by radiological and genetic testing.


Subject(s)
Ocular Motility Disorders , Ophthalmoplegia, Chronic Progressive External , Scoliosis , Humans , Child , Receptors, Immunologic/genetics , Receptors, Cell Surface , Ocular Motility Disorders/diagnosis , Ocular Motility Disorders/genetics , Scoliosis/complications , Scoliosis/diagnosis , Scoliosis/genetics , Ophthalmoplegia, Chronic Progressive External/diagnosis , Ophthalmoplegia, Chronic Progressive External/genetics , Roundabout Proteins
2.
Ophthalmol Retina ; 7(10): 891, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37204368
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