Familial dysautonomia is a rare genetic disorder that affects the sensory and autonomic nervous systems. Affected individuals have decreased corneal sensation and can develop serious complications from neurotrophic keratitis. Scleral devices are an excellent option for the long-term management of patients with familial dysautonomia and neurotrophic keratitis.
In this series, we describe three patients with familial dysautonomia and classic ocular complications fit with scleral devices. No identifiable health information is included in this case report.
Case 1: A 35-year-old white male presented with blurred vision without complaint of pain or dryness. He had moderate punctate corneal staining and central stromal corneal scarring in both eyes despite use of artificial tears, punctal plugs, and therapeutic soft lenses. He was fit with 18.2-mm commercial scleral devices, which improved vision and protected the ocular surface. Case 2: A 20-year-old cognitively impaired white female presented with history of frequent eye rubbing and self-mutilation. She had recurrent corneal abrasions with corneal scarring in both eyes and was fit with 16-mm gas-permeable prosthetic replacement of the ocular surface ecosystem devices. Case 3: An 18-year-old white male with history of frequent corneal abrasions and blurred vision was referred by his medical doctor. He and his mother were trained in the safe handling of 16- and 16.5-mm gas-permeable prosthetic replacement of the ocular surface ecosystem devices in the right and left eyes. Corneal epithelial defects healed and vision improved with daily use.
Individuals with familial dysautonomia present unique clinical challenges owing to severe ocular surface disease and inability to perceive pain. Initial therapy for neurotrophic keratitis includes lubrication, punctal occlusion, and therapeutic lenses. Additional therapies include autologous serum tears, amniotic membrane treatment, scleral devices, and tarsorrhaphy. In this series, scleral devices are an excellent option to protect the ocular surface and prevent common ocular complications.