Klinika oczna · 2006
[Ocular albinism in pediatric patients with nystagmus].
Аннотация на английскомСтатьяНазвание и аннотация: Перевод в очереди
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Trzebicka Agnieszka, Sarti Grazyna, Kocyła-Karczmarewicz Beata, Grałek Mirosława, Juszko Jadwiga, Szapłyko Waldemar
Аннотация
PURPOSE: Presentation of diagnostic methods and results obtained in childre with nystagmus, with suspicion of ocular albinism.
MATERIAL AND METHODS: Records of 9 children (range 0.2 to 5.5 years) are presented. In all cases family history, ophthalmic examination and visual evoked potentials were analyzed.
RESULTS: Clinical signs of ocular albinism were found in all patients. 2 children had cutaneous albinism, VEP records of 7 children indicated abnormalities typical for albinism, clinical signs of gene carrying were found in 7 mothers.
CONCLUSIONS: Clinical signs enable us to diagnose ocular albinism with relatively high probability, nevertheless characteristic VEP records confirm diagnosis in clinically difficult cases.
MATERIAL AND METHODS: Records of 9 children (range 0.2 to 5.5 years) are presented. In all cases family history, ophthalmic examination and visual evoked potentials were analyzed.
RESULTS: Clinical signs of ocular albinism were found in all patients. 2 children had cutaneous albinism, VEP records of 7 children indicated abnormalities typical for albinism, clinical signs of gene carrying were found in 7 mothers.
CONCLUSIONS: Clinical signs enable us to diagnose ocular albinism with relatively high probability, nevertheless characteristic VEP records confirm diagnosis in clinically difficult cases.