ISSN: 1300-0365
Dil: Türkçe
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Riley Day Syndrome (a Case Report)
Neslihan ASTAM*, Gülay GÜLLÜLÜ**, Zerrin ORBAK***, İlknur AKYOL*
* Yrd.Doç.Dr., Atatürk Üniversitesi Tıp Fakültesi Göz Hastalıkları AD,** Prof.Dr., Atatürk Üniversitesi Tıp Fakültesi Göz Hastalıkları AD,*** Doç.Dr., Atatürk Üniverstesi Tıp Fakültesi Pediatri Kliniği, ERZURUM
Purpose: In this study, the clinical manifestations and diagnostic criteria of Riley Day syndrome was investigated.
Material and Method: Riley Day Syndrome is a rare autosomal recessive disorder that is characterized by sensory and autonomic nervous system dysfunction. Clinical manifestation of this syndrome are caused by deficits in autonomic homeostatic function and sensory appreciation of peripheral pain and temparature. Ocular complications occur primarily as result of decreased lacrimation and corneal hypoesthasia.
A case with this clinical findings was investigated as a Riley Day syndrome in our clinic.
Results: Systemic findings were absence of deep tendon reflexes, traumatic atrophic glossitis, insensitivity to pain, cold hand and feet and recurrent pneumonias.
Ocular findings were epithelial defect and stromal infiltration in two eyes, absence of corneal reflex, diminished lacrimation and myosis after instillation of %0,125 pilocarpin HCl.
Conclusion: Ocular findings are important for diagnosis of Riley Day syndrome as match as systemic findings.Keywords: Riley Day syndrome, AlacrimaTurkiye Klinikleri J Ophthalmol 2001, 10:30-33
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