Ocular Manifestations in a Case of Kallmann Syndrome: An Interesting Case Report on Isolated Gonadotropin-Releasing Hormone Deficiency
October 2023
in “
Indian Journal of Ophthalmology - Case Reports
”
TLDR Kallmann syndrome can cause eye issues and other health problems, requiring various treatments.
This case report discusses an 18-year-old female with Kallmann syndrome (KS), a rare genetic disorder characterized by hypogonadotropic hypogonadism and anosmia. The patient presented with ocular manifestations, including defective vision, exotropia, axial proptosis, and spheroidal corneal degeneration. She also exhibited systemic symptoms such as primary amenorrhea and a bicornuate uterus. Treatment included vaginoplasty for vaginal agenesis and ocular procedures like superficial keratectomy and amniotic membrane grafting. KS can lead to complications like osteoporosis and cardiac diseases, highlighting the importance of dietary supplementation and physical therapy. Advances in genetic testing may improve understanding and management of KS.