Bilateral Corneal Opacities with Galactokinase Deficiency and Spinal Muscular Atrophy
10.3341/jkos.2019.60.12.1318
- Author:
Soon Young CHO
1
;
Sangbum KIM
;
Sung Kun CHUNG
Author Information
1. Department of Ophthalmology, Dongguk University College of Medicine, Gyeongju, Korea.
- Publication Type:Case Report
- From:Journal of the Korean Ophthalmological Society
2019;60(12):1318-1322
- CountryRepublic of Korea
- Language:Korean
-
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.
