AI Summary & Key Takeaways
AI InsightAbout one half of patients survive into the third or fourth decade of life with palliative treatment.In this article, a patient who was referred to our clinic with bilateral corneal ulceration (neurotrophic keratitis) and diagnosed as FD is presented.
📌 3 Key Takeaways
Abstract
The syndrome of Familial Dysautonomia (FD), also called the Riley-Day syndrome, is an example of a group of disorders known as hereditary sensory and autonomic neuropathies. FD is a rare genetic disease that results from the abnormal development of the nervous system, especially the sensory and autonomic system and characterized by autonomic instability, repeated pneumonia, attacks of vomiting and dry eyes often associated with corneal ulceration. Ocular complications occur as a result of decreased lacrimation and corneal hypoesthasia. About one half of patients survive into the third or fourth decade of life with palliative treatment.In this article, a patient who was referred to our clinic with bilateral corneal ulceration (neurotrophic keratitis) and diagnosed as FD is presented.
Özet
Riley-Day sendromu olarak da bilinen Ailevi disotonomi (AD), herediter sensoriyel- otonomik nöropati genel adıyla bilinen grubun bir örneğidir. Ailevi disotonomi, sinir sisteminin özellikle de duyusal ve otonomik sistemin anormal gelişiminden kaynaklanan, otonomik instabilite, tekrarlayan pnömoni atakları, kusma epizodlan ve sıklıkla korneal ülserasyonla birlikte olan kuru göz ile karakterize, nadir görülen genetik geçişli bir hastalıktır. Oküler komplikasyonlar primer azalmış lakrimasyon ve korneal hipoesteziye bağlı olarak gelişir. Prognozu iyi değildir. Vakaların yaklaşık %50'si palyatif tedavi yöntemleri ile 3.-4. dekada kadar yaşayabilmektedir. Bu makalede bilateral korneal ülserasyon (nörotrofik keratit) tanısı ile servisimize başvuran ve servisimizde AD tanısı alan bir olgu sunulmuştur.