Long-term Treatment of congenital glaucoma and Turner syndrome associated with DMPK gene mutation

Abstract

Background: Turner syndrome (TS) is a rare disorder associated with complete or partial deletion of the X chromosome, with clinical manifestations including short stature, hypogonadism, cardiovascular system abnormalities, autoimmune disease, and other systemic abnormalities. TS patients with congenital glaucoma are rare. Case presentation: A 27-year-old female with the karyotype of (45,X) and the DMPK gene Kc.335T>C(p.M112T) on chromosome 19 was diagnosed with congenital glaucoma and TS, presenting with right eye atrophy, cataract, blue sclera, ptosis, amblyopia, and blue-violet blindness in the left eye. Systematic examination revealed the absence of menstruation, congenital uterine agenesis, hypertension, aortic valve malformation, mild aortic regurgitation, diabetes mellitus, abnormal thyroid function, frequent diarrhea, uneven density of the right posterior patella, left pleural adhesions, left renal atrophy, and congenital webbed neck. Multiple anti-glaucoma surgeries were performed, and the intraocular pressure (IOP) was under control in the left eye. Conclusion: The case exhibited a rare coexistence of primary congenital glaucoma, Turner syndrome, and a DMPK gene mutation. Long-term treatment can keep IOP stable. The difficulty of congenital glaucoma treatment may be related to a specific type of genetic mutation.