Bilateral Corneal Opacities with Galactokinase Deficiency and Spinal Muscular Atrophy

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.