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Wydanie 1/2007

Optyczna koherentna tomografia (OCT) plamki u dzieci w diagnostyce różnicowej rozwarstwienia siatkówki sprzężonego z płcią

Optical Coherent Tomography (OCT) Macula Imaging in Differential Diagnosis of X-Linked Retinoschisis (XLRS) in Children

Beata Kocyła-Karczmarewicz, Jadwiga Juszko, Mirosława Grałek, Agnieszka Trzebicka, Grażyna Sarti

Klinika Okulistyki, Instytut ?Pomnik - Centrum Zdrowia Dziecka? w Warszawie Kierownik: prof. dr hab. n. med. Mirosława Grałek

Summary: X-linked retinoschisis (XLRS) is a recessively inherited degenerative retinopathy in which parafoveal cystic cavities impair central vision and splitting through the nerve fiber layer in the peripheral retina causes visual field loss. The gene involved in XLRS was identified. There are some problems in differential diagnosis when family history is incomplete, no genetic mapping, visual impairment is mild, typical radiating cystic (spoke wheel) maculopathy is subtle, no peripheral retinal lesions, and no electronegative ERG. The purpose is initial assessment of useful OCT macula imaging in diagnosis of XLRS. Material and methods: Three boys, age 6 to 8 years were diagnosed as a probably having XLRS on the basis of their family history and clinical findings such a level of visual acuity, changes during fundus examination, visual field, fluorescein angiography, ERG and OCT. Results: All children, despite non complete clinical manifestation of XLRS, demonstrated cystic-like spaces in OCT images, which let to confirm diagnosis. Conclusions: The findings in macula in OCT images seem to be useful method of differential diagnosis of XLRS in children.

Keywords: children, X-linked retinoschisis, diagnosis, OCT

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