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Wydanie 1/2007

Zmiany kliniczne i elektrofizjologiczne narządu wzroku u chorych z różnymi postaciami albinizmu

The Clinical and Electrophysiological Features of Visual Organ in Patients with Albinism

Jadwiga Bernardczyk-Meller¹, Maciej R. Krawczyński², Jarosław Kocięcki¹, Anna Lubczyńska¹

¹Katedra i Klinika Okulistyki Akademii Medycznej w Poznaniu
Kierownik: dr hab. n. med. Jarosław Kocięcki
²Katedra i Zakład Genetyki Medycznej Akademii Medycznej w Poznaniu
Kierownik: prof. dr hab. n. med. Anna Latos-Bieleńska

Summary: Albinism is a very rare ocular abnormality. It is caused by deficiency of melanin pigment in the skin, hair and eye (oculocutaneous) or primarily in the eye (ocular). The aim of the study was to analyze the clinical and electrophysiological features of visual organ in patients with different types of albinism. The paper presents clinical, electrophysiological and genetic data of 9 patients with albinism. All diagnosed patients have presented at least one of the clinical symptoms: iris transillumination, nystagmus, squint, hypopigmentation of the retina, foveal hypoplasia, loss of stereoscopic vision or refractive errors. Changes of ERG and contralateral VEP predominance were also found. Genetic counseling plays a very important role in albinism diagnostics, strongly because of the inherited security of the disease. Ophthalmologic and electrophysiological investigations are very useful for proper diagnosis of such patients.

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