J Korean Ophthalmol Soc.  2019 Dec;60(12):1318-1322. 10.3341/jkos.2019.60.12.1318.

Bilateral Corneal Opacities with Galactokinase Deficiency and Spinal Muscular Atrophy

• Cho SY
• Kim S
• Chung SK

• KMID: 2466189
• DOI: http://doi.org/10.3341/jkos.2019.60.12.1318

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.

Keyword

Corneal opacity; Galactokinase deficiency; Kugelberg-Welander disease; Spinal muscular atrophy

MeSH Terms

Atrophy
Biopsy
Child
Corneal Opacity*
Female
Galactokinase*
Galactosemias*
Humans
Muscle, Skeletal
Muscular Atrophy, Spinal*
Spinal Muscular Atrophies of Childhood
Galactokinase

Figure

• 

  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.

• 

  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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