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. 2022 Jul;70(7):2643-2644.
doi: 10.4103/ijo.IJO_2065_21.

Eye signs in a child with ROBO3 gene mutation

Sangeetha Yoganathan  1 , Madhan Kumar  2 , Mukul Malhotra  1 , Praisy Joy  3 , Sumita Danda  3 , Maya Thomas  1 , Kenny S David  4 , Anitha Jasper  5 , Satheesh Solomon T Selvin  6
Affiliations

Eye signs in a child with ROBO3 gene mutation

Sangeetha Yoganathan et al. Indian J Ophthalmol. 2022 Jul.
No abstract available

Keywords: HGPPS; ROBO3 mutation; horizontal gaze palsy; progressive scoliosis.

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Conflict of interest statement

None

Figures

Figure 1
Figure 1
Photograph depicts the absence of horizontal eye movements but preserved vertical and convergence eye movements
Figure 2
Figure 2
Thoracic scoliosis and surgical scar over the thoracic spine were observed in our proband
See this image and copyright information in PMC

References

    1. Ungaro C, Mazzei R, Cavallaro S, Sprovieri T. The spectrum of ROBO3 mutations in horizontal gaze palsy with progressive scoliosis:An update. Neurosci Med. 2018;9:187–97.
    1. Kurian M, Megevand C, De Haller R, Merlini L, Boex C, Truffert A, et al. Early-onset or rapidly progressive scoliosis in children:Check the eyes! Eur J Paediatr Neurol. 2013;17:671–5. - PubMed
    1. Bosley TM, Salih MA, Jen JC, Lin DD, Oystreck D, Abu-Amero KK, et al. VIDEO neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3. Neurology. 2005;64:1196–203. - PubMed
    1. Lin CW, Lo C-P, Tu M-C. Horizontal gaze palsy with progressive scoliosis:A case report with magnetic resonance tractography and electrophysiological study. BMC Neurol. 2018;18:75. - PMC - PubMed

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