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CASE REPORT
Year : 2021  |  Volume : 1  |  Issue : 2  |  Page : 354-356

Congenital abducens-oculomotor dysinnervation: A novel congenital cranial dysinnervation disorder phenotype


Department of Ophthalmology, Guru Nanak Eye Center and Maulana Azad Medical College, New Delhi, India

Correspondence Address:
Dr. Neha Sachdeva
Guru Nanak Eye Centre, Maharaja Ranjit Singh Marg, New Delhi - 110 002
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_2277_20

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In a boy aged 6 years left unilateral congenital ptosis with medial rectus-levator palpebrae superioris (MR-LPS) synkinesis; the coexisting hitherto unreported likely lateral rectus-superior rectus (LR-SR) dysinnervation is reported. Ocular movements were full and cover test did not reveal any ocular misalignment. Such a presentation can only arise from two concurrent dysinnervations: first one between inferior and superior divisions of third nerve and second one between third and sixth cranial nerve. The dysinnervation may conform to a forme-fruste TUBB3 (Tubulin, Beta 3 Class III Gene) pathogenic variant phenotype and may be classed as a novel congenital cranial dysinnervation disorder (CCDD).


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