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Cho, Kim, and Chung: Bilateral Corneal Opacities with Galactokinase Deficiency and Spinal Muscular Atrophy
Case Report

Journal of the Korean Ophthalmological Society 2019; 60(12): 1318-1322.

Published online: 17 December 2019

DOI: https://doi.org/10.3341/jkos.2019.60.12.1318

Bilateral Corneal Opacities with Galactokinase Deficiency and Spinal Muscular Atrophy

Soon Young Cho, MD1, Sangbum Kim, MD1, Sung Kun Chung, MD, PhD2

1Department of Ophthalmology, Dongguk University College of Medicine, Gyeongju, Korea.

2Saevit Eye Hospital, Goyang, Korea.

Address reprint requests to Sung Kun Chung, MD, PhD. Saevit Eye Hospital, #1065 Jungang-ro, Ilsandong-gu, Goyang 10447, Korea. Tel: 82-31-900-7700, Fax: 82-31-900-7777, eyekun@gmail.com

Received 28 June 2019       Revised 25 July 2019       Accepted 6 December 2019

©2019 The Korean Ophthalmological Society

The Korean Ophthalmological Society

(open-access):

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Purpose

To report a case of bilateral corneal opacities and rare spinal muscular atrophy type III (Kugelberg-Welander disease) in a galactokinase-deficiency patient.

Case summary

A 6-year-old female presented with bilateral ground glass-like superficial stromal corneal opacities in the corneal center. The patient exhibited developmental motor delay. On muscle biopsy, skeletal muscle neurogenic atrophy consistent with spinal muscular atrophy type III, i.e., Kugelberg-Welander disease, was diagnosed, as well as galactokinase deficiency. On genetic examination, mutation analysis showed an A198V mutation of galactokinase in chromosome 17q24 (“Osaka” variant).

Conclusions

Bilateral corneal opacities and spinal muscular atrophy type III was found in a galactokinase-deficiency patient.

Keywords: Corneal opacity, Galactokinase deficiency, Kugelberg-Welander disease, Spinal muscular atrophy

Figures and Tables

Figure 1

Pedigree of the patient showed that she is the only affected person in the family. A cross inside the circle indicates an affected subject (arrow). A small circle inside a circle or square indicates possible heterozygous carrier.

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Figure 2

Anterior segment photographs showing diffuse ground glass stromal opacities in the corneal center. (A) Right eye. (B) Left eye.

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Figure 3

Mutation of A198V in exon 4 of the galactokinase gene at 17q24 showed “Osaka” variant. The base of codon 593 C was changed to T. Therefore, an amino acid changed from 198 alanine to valine.

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Notes

Conflicts of Interest The authors have no conflicts to disclose.

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