Corneal Transplantation in Familial Dysautonomia

Introduction Familial dysautonomia (FD) is a rare hereditary sensory and autonomic neuropathy (type III). The disease is caused by a point mutation in the IKBKAP gene that affects the splicing of the elongator-1 protein (also known as IKAP). Patients have dramatic blood pressure instability due to baroreflex failure, chronic kidney disease, and impaired swallowing leading to recurrent aspiration pneumonia, which results in chronic lung disease. Diminished pain and temperature perception results in neuropathic joints and thermal injuries. Impaired proprioception leads to gait ataxia. Optic neuropathy and corneal opacities lead to progressive visual loss. Areas covered This article reviews current therapeutic strategies for the symptomatic treatment of FD, as well as the potential of new gene modifying agents. Expert opinion Therapeutic focus on FD is centered on reducing the catecholamine surges caused by baroreflex failure. Managing neurogenic dysphagia with effective protection of the airway passages and prompt treatment of aspiration pneumonias is necessary to prevent respiratory failure. Sedative medications should be used cautiously due to risk of respiratory depression. Non-invasive ventilation during sleep effectively manages apneas and prevents hypercapnia. Clinical trials of compounds that increase levels of IKAP (ELP-1) are underway and will determine whether they can reverse or slow disease progression.

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“…Some cases may require corneal transplant, but success rates are low due to poor wound healing and epithelial defects. 77 …”

Section: Ophthalmological Treatmentsmentioning

confidence: 99%

Current treatments in familial dysautonomia

Palma

Kaufmann

Fuente-Mora

et al. 2014

Expert Opinion on Pharmacotherapy

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“…Lastly, keratoplasty is a risky procedure and can even be life threatening, because patients with FD are always susceptible to vomiting crises that can be fatal in the days after surgery. 19 In view of all the options, this baby was referred to the Université de Montréal's Vision Clinic (CUV) for fitting with scleral contact lenses that were meant to protect both her corneas from subsequent trauma and reduce surface dryness. Considering the very young age of the patient, it was decided, in agreement with the corneal specialist, to refer her to the Boston Foundation for Sight (Needham, MA) for the fitting itself and to conduct the followups in Montreal (at the CUV).…”

mentioning

confidence: 99%

Piggyback Cosmetic Contact Lens as an Occlusion Therapy in a Patient With Familial Dysautonomia

Michaud

Carrasquillo

2010

Eye &Amp; Contact Lens: Science &Amp; Clinical Practice

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Familial dysautonomia is a challenging condition for the eye because of the presence of alacrymia and lack of corneal sensitivity. Scleral contact lenses and cosmetic contact lenses offer a unique way of addressing many issues, such as corneal healing and amblyopia, raised in this case report. These devices may be considered for any other case that requires corneal tissue healing and visual development.

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Chirurgie der Kornea

Naumann¹,

Sautter²

1988

Augenärztliche Operationen

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Corneal Transplantation in Familial Dysautonomia

Cited by 6 publications

References 15 publications

Current treatments in familial dysautonomia

Current treatments in familial dysautonomia

Piggyback Cosmetic Contact Lens as an Occlusion Therapy in a Patient With Familial Dysautonomia

Chirurgie der Kornea

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