Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype

Oliwa, A. et al. (2022) Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype. Journal of Neuromuscular Diseases, 9(6), pp. 803-808. (doi: 10.3233/jnd-220818) (PMID:36057830)

Abstract

This case report describes a girl who presented antenatal arthrogryposis and postnatal hypotonia, generalized and respiratory weakness, joint deformities particularly affecting the lower limbs and poor swallow. By 5 months, cataracts, abnormal electroretinograms, visual evoked potentials and global developmental impairments were recognized. No causative variants were identified on targeted gene panels. After her unexpected death at 11 months, gene-agnostic trio whole exome sequencing revealed a likely pathogenic de novo BICD2 missense variant, NM_001003800.1, c.593T>C, p.(Leu198Pro), confirming the diagnosis of spinal muscular atrophy lower extremity predominant type 2 (SMA-LED2). We propose that cataracts and abnormal electroretinograms are novel features of SMA-LED2.

• Item Type: Articles
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Hamilton, Dr Ruth and Heuchan, Dr Anne Marie and Horrocks, Dr Iain and Millar, Dr Eoghan and Joseph, Dr Shuko and Longman, Dr Cheryl and Constantinou, Dr Panayiotis
• Authors: Oliwa, A., Joseph, S., Millar, E., Horrocks, I., Penman, D., Baptista, J., Cullup, T., Constantinou, P., Heuchan, A.-M., Hamilton, R., and Longman, C.
• College/School: College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
• Journal Name: Journal of Neuromuscular Diseases
• Publisher: IOS Press
• ISSN: 2214-3599
• ISSN (Online): 2214-3602
• Published Online: 01 September 2022
• Copyright Holders: Copyright © 2022 IOS Press
• First Published: First published in Journal of Neuromuscular Diseases 9(6): 803-808
• Publisher Policy: Reproduced in accordance with the copyright policy of the publisher