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
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.