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NR. 1 (I)/2007
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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 |
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| 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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| Key words: |
albinism, VEP, ERG. |
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