Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant.

CONCLUSION: We show that familial MED can arise from a TUBB3 variant and could be considered a limited form of CFEOM. Neurological features such as mild facial palsy and cortical malformations can be present in patients with MED. Thus, in individuals with congenital MED, consideration may be made for TUBB3 mutation screening.
PMID: 31302631 [PubMed - as supplied by publisher]

Source: The British Journal of Ophthalmology - July 12, 2019 Category: Opthalmology Authors: Thomas MG, Maconachie GDE, Constantinescu CS, Chan WM, Barry B, Hisaund M, Sheth V, Kuht HJ, Dineen RA, Harieaswar S, Engle EC, Gottlob I Tags: Br J Ophthalmol Source Type: research