ISSN: 1300-0365
Dil: Türkçe
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Case Report: Ocular Nephropathic Cystinosis
Tamer DEMİR*, Burak TURGUT**, Süleyman YILDIRIM***, Fatih ULAŞ***
* Yrd.Doç.Dr., Fırat Üniversitesi Tıp Fakültesi Göz Hast. AD. FTM,** Uz.Dr., Elazığ Devlet Hastanesi Göz Kliniği,*** Araş.Gör.Dr., Fırat Üniversitesi Tıp Fakültesi Göz Hast. AD. FTM, ELAZIĞ
Cystinosis is an autosomal recessive disorder and characterized by abnormal cystine crystal accumulation in reticuloendothelial system (RES), leucocytes, and fibroblasts. The infantile form is the severest type and progressive renal failure causes death to the patients within the first decade of life.
A nine year old male nephrotic cystinosis patient presented complaining of pain, stinging, redness, photophobia and decresed visual acuity in both eyes. On systemic examination severe growth retardation, renal failure, hepatosplenomegaly and hypotroidism was noticed. Biomicroscopic evaluation revealed diffuse cystinosis crystals in corneal stroma. Visual acuity was 2/10 in both eyes and after the systemic cystinosis treatment visual acuity improved to 3/10.
In cystinosis ocular involvement includes pathognomonic deposition of shining crystals in cornea, conjunctiva and this may lead to photophobia and reduced visual acuity. Pediatric and ophthalmologic follow-up of cystinosis patients should be done for developing complications.Keywords: Cystinosis, Cornea, Nephropathy
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