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Wydanie 4/2011
str. 141

Autosomalnie dominujący zanik nerwów wzrokowych typu Kjera – opis przypadku rodzinnego występowania choroby

Kjer-Type Autosomal Dominant Optic Atrophy – Familial Case Report

Karolina Kaźmierczak, Małgorzata Gawrońska, Grażyna Malukiewicz

Katedra i Klinika Chorób Oczu Collegium Medicum w Bydgoszczy Uniwersytetu Mikołaja Kopernika w Toruniu
Kierownik: dr hab. n. med. Grażyna Malukiewicz, prof. nadzw. UMK

Summary: Hereditary optic nerve atrophies are heterogeneous, genetic group of optic nerve diseases. First symptoms usually appear in childhood and they’re associated with decreased visual acuity, central or paracentral scotomas and color vision disturbances. They’re becoming progressive with age. The authors present a case of the hereditary optic nerve atrophy in 2 generations of one family: 2 sisters (age 40 and 37) and a daughter (age 19) one of them. In all 3 women best corrected visual acuities were decreased, color vision abnormalities were present and stereoscopic ophthalmoscopy revealed pale optic discs. Paracentral scotomas in older sister and uncharacteristic visual field scotomas in her daughter were noted. Both sisters had PERG N95 component abnormalities, prolonged latency of P100 in PVEP and substantial reduction of RNFL measurements in GdxVCC. Genetic tests confirming diagnosis are carry on.

Słowa kluczowe: autosomalnie dominujący zanik nerwów wzrokowych, zanik nerwów wzrokowych typu Kjera.

Keywords: autosomal dominant optic atrophy, Kjer-type optic atrophy.

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