Self-Harm Traumatic Cataract And Vitreous Hemorrhage In A Girl Affected By Marden-Walker Syndrome – Case Report

The aim of this case report is to highlight the clinical presentation, diagnosis, and treatment of a young MWS patient who developed a traumatic cataract and vitreos hemorrhage. It underscores the importance of multidisciplinary awareness in managing MWS, advocating for timely ophthalmologic assessments, especially after ocular trauma in patients with complex genetic syndromes.

Department of ophtalmology, Clinical Hospital Centre Zagreb

A 20-year-old female with Marden-Walker syndrome and intellectual disability was referred to the Department of Ophthalmology of University Hospital Centre Zagreb due to a white opacity in her right pupil from repetitive self-harm. Her medical history included craniofacial abnormalities, hypotonia, joint contractures, and self-injurious behavior, particularly frequent hitting and rubbing the eye. A dense, mature traumatic cataract in her right eye was identified. An ultrasound of the eye was performed preoperatively and vitreous hemorrhage was established. Due to lack of cooperation, visual tests were limited, and surgery was performed under general anesthesia, involving lens aspiration, anterior vitrectomy and intraocular lens implantation. The patient was discharged the next day with the prescription of neomycin, polymyxin B, and dexamethasone combination for local use (eye drops 5x/day and ointment 2x/day). Beside that, isotonic eyewash solution containing potassium iodide was also presribed for local use (eye drops 4x/day).  At the follow-up, her vision had improved, with no complications. Multidisciplinary care helped reduce her self-harm, and no further ophthalmological interventions were needed.

This case report highlights the importance of early diagnosis and surgical treatment of traumatic cataracts in patients with MWS, as well as the need for psychological and ophthalmologic interventions to prevent complications. A multidisciplinary approach, involving genetics, psychiatry, and ophthalmology, is crucial for providing comprehensive care to this vulnerable group of patients.