Self-Harm Traumatic Cataract and Vitreous Haemorrhage in a Girl with Marden-Walker Syndrome – A Case Report

Aim: The aim of this case report is to highlight the clinical presentation, diagnosis, and treatment of a young Marden-Walker syndrome (MWS) patient who developed a traumatic cataract and vitreous haemorrhage. 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. Case report: A 20-year-old female with MWS 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 behaviour, 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 haemorrhage was established. Due to the lack of cooperation, visual tests were limited, and surgery was performed under general anaesthesia, 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). Besides that, isotonic eyewash solution containing potassium iodide was also prescribed 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. Conclusions: 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.