Stuve‐wiedemann syndrome and cornea consequences: A rare case report

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Aims/Purpose: Stuve‐Wiedemann Syndrome (STWS) is a rare genetic disorder inherited in an autosomal recessive manner. The condition leads to respiratory and feeding difficulties, as well as episodes of hyperthermia, typically resulting in death within the first two years of life. It is characterized by bone dysplasia, hypotonia, and dysautonomia, accompanied by ocular and neuropathic features. The absence of corneal reflexes, decreased blink reflexes, and corneal opacities are recognized markers. Here, we report a case of STWS with corneal hypoesthesia and opacity, highlighting the current challenges in management and treatment.Methods: A 16‐year‐old male was admitted to the Ophthalmology Department of the University of São Paulo in 2010 due to a history of multiple corneal ulcer episodes. At the slip lamp examination, he presented leukoma formation and corneal hypoesthesia. The patient also presented several orthopedic alterations. After a multidisciplinary investigation, the diagnosis of STWS was made, and follow‐up was conducted. He has been treated with lubricating eye drops and ointment for the last few years. Since 2014, he has not experienced corneal ulcers. At his last appointment in 2024, he kept corneal exposure due to decreased blink reflexes, leukomas in both eyes, mild superficial punctate keratitis and complained of dry eye and eye itching despite the treatment. Therefore, a tarsoconjunctival flap was indicated as a surgical method, having been employed due to persistent corneal involvement.Results: The case's challenges relate to the management and treatment of corneal involvement in patients with STWS, as most often, they are children who don’t express discomfort or show symptoms due to the characteristic neuropathy of their lesions. Additionally, it's essential to reduce corneal exposure and its consequences.Conclusions: Although rare, ophthalmologists must be aware of this ocular involvement in STWS for early diagnosis and appropriate management.References Hernández‐García S et al. Neuroparalytic keratopathy in Stüve‐Wiedemann syndrome treated with tarsoconjunctival flap. Indian J Ophthalmol. 2023