ISSN: 1300-0365
Dil: Türkçe
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Alport Syndrome: A Case Report
Mehmet ÇITIRIK*, Gamze MEN**, Seyhan SONAR ÖZKAN***, Cenk ÖZDUR*, Özlem ASLAN**
* Asis.Dr., SSK Ankara Göz Hastalıkları Merkezi ve Göz Bankası 2. Göz Kliniği,** Uz.Dr., SSK Ankara Göz Hastalıkları Merkezi ve Göz Bankası 2. Göz Kliniği,*** Doç.Dr., SSK Ankara Göz Hastalıkları Merkezi ve Göz Bankası 2. Göz Kliniği Şef Yardımcısı, ANKARA
Purpose: To report a case of Alport's syndrome and emphasize on the importance of an ophthalmologist's role for the diagnosis of a life threatening systemic disease.Method: Case report. Twenty-one-year-old man was referred to the retina clinic for low visual acuity and retinal pigment epithelial changes in the left eye. The patient and his family members underwent detailed ophthalmological examination and ancillary studies including electrophysiological testing.Results: Best-corrected visual acuity was 20/60 OD and 20/50 OS. On slit-lamp examination vesicles on Descemet's membrane similar to those seen in posterior polymorphous dystrophy were seen bilaterally. Pupillary capture with a portion of the posterior chamber intraocular lens was accompanied by posterior capsular opacification in the right eye. In the left eye, anterior lenticonus along with anterior subcapsular opacities were observed. Retinal flecks in the perimacular area in both eyes were detected on fundoscopy. Asymptomatic microhematuria, proteinuria, arterial hypertension and high-tone sensorineural hearing loss were non-ophthalmological findings.Conclusion: Alport's syndrome is a hereditary progressive disease that afflicts the kidneys the auditory and visual systems. It is a chronic disorder that typically follows a progressive course with the eventual development of renal failure leading to death. The course of this progressive disease can be ameliorated by early diagnosis. Therefore, the ophthalmological examination of a patient with anterior lenticonus must be combined with a detailed medical evaluation.Keywords: Lenticonus, Retinal flecks, Hereditary nephritis, Sensorineural hearing lossTurkiye Klinikleri J Ophthalmol 2002, 11:219-223
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