| CASE REPORT |
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| Year : 2021 | Volume
: 1
| Issue : 2 | Page : 354-356 |
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Congenital abducens-oculomotor dysinnervation: A novel congenital cranial dysinnervation disorder phenotype
Pramod K Pandey, Neha Sachdeva, Priya Saraf, Rupak B Choudhury, Vidula Yadav, Divya Kishore
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
 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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