Open angle glaucoma in a case of type IV Ehlers-Danlos syndrome
General Medicine, 2025, 27(1), 16-20.
N. Stoyanova1, D. Stoyanov2, P. Petrov3
1 Department of Ophthalmology, Faculty of Medicine, Medical University – Plovdiv
2 Faculty of Medicine, Medical University – Plovdiv
3 Department of Maxillofacial Surgery, Faculty of Dental Medicine, Medical University – Plovdiv
Abstract. Introduction: Ehlers-Danlos syndrome (EDS) refers to a group of autosomal dominant hereditary disorders, caused by a defect in collagen synthesis. This article presents a case of a young patient with EDS and ocular hypertension, progressing to glaucoma, noteworthy due to the rare pathology and the necessity for multidisciplinary observation. Case Description: The clinical case involves a 19-year-old male with high intraocular pressure, a history of hyperreflexia in all joints, spontaneous sigmoid colon perforation a few years prior, foot surgeries, and vascular anomalies. He reported that his mother died suddenly from peritonitis. Examination revealed a visual acuity of 1.0 in both eyes, intraocular pressure of 32 mmHg in the right eye and 35 mmHg in the left eye, and an open anterior chamber angle. A wide optic disc cupping (C/D = 0.7) was detected, initially without visual field defects on perimetry. Therapy was initiated, resulting in normalization of intraocular pressure. Two years later, sectoral thinning of the ganglion cell complex and nerve fiber layer was found, while perimetry revealed a paracentral defect in the visual field of the left eye. Genetic testing identified a pathological variant of the COL3A1 gene, characteristic of Ehlers-Danlos syndrome type IV. Discussion and Conclusions: Glaucoma is a rare ocular manifestation in Ehlers-Danlos syndrome, necessitating regular outpatient observation even in young patients. The detection of glaucoma-related changes, along with the involvement of other organs and systems, requires special attention from general practitioners and specialists across various fields to exclude this syndrome due to its life-threatening complications.
Key words: Ehlers-Danlos syndrome, glaucoma, joint hypermobility
Address for correspondence: Nina Stoyanova, e-mail: nina.st.st@abv.bg