Programm                 "Degeneration und Regeneration– Grundlagen, Diagnostik und Therapie"


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Abstract
Abstract

Importance of Family Examination in Juvenile X-linked Retinoschisis

Kłosowska-Zawadka A.1, Bernardczyk-Meller J.1, Gotz-Więckowska A.1, Krawczyński M.2
1Katedra i Klinika Okulistyki, 2Katedra i Zakład Genetyki Medycznej, Akademii Medycznej w Poznaniu

Purpose: Congenital (juvenile) retinoschisis is a disorder that belongs to the group of hereditary vitreoretinopathies. This disorder is inherited in X-linked recessive way and its onset usually occurs in 5-10 years old boys with decreased visual acuity due to maculopathy, and it can present stationary or progressive course.
Results: The authors present a case of 17-year-old boy with decreased visual acuity, hypermetropia and bilateral retinoschisis with maculopathy in fundus examination. In electrophysiological investigations the significant reduction of b-wave amplitude with preserved a-wave was shown, what was especially visible in scotopic conditions. In the face of 50% risk of recurrence of the disorder in the brothers of the affected male, the full ophthalmological and electrophysiological examinations, chromatic vision and visula fields were done in three die remaining (until now - healthy) brothers. In one of them (13-year-old) decreased visual acuity, mixed astigmatism and maculopathy were stated, without any changes of the peripheral retina. In electrophysiological examination the record was similar to that of the older brother and typical for juvenile retinoschisis. In the youngest brother (8-year-old) decreased visual acuity, hype


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