[No X-chromosome linked juvenile foveal retinoschisis].
OBJECTIVE
To describe the clinical characteristics of two cases of juvenile foveal retinoschisis in women with an atypical hereditary pattern, no X-chromosome linked. An autosomal recessive inheritance is proposed.


METHODS
Two generations of a family (5 members) in which only two sisters were evaluated. The complete examination of these two cases includes retinography, fluorescein angiography, automated perimetry, color vision testing, electroretinogram, electrooculogram and visually evoked potentials.


RESULTS
Comparing our cases with the classic form of X-linked juvenile retinoschisis, they are less severely affected. The best visual acuity and the less disturbed or even normal electroretinogram confirm this fact. We emphasise the existence of isolated plaques of retinal pigment epithelium atrophy with perivascular pigment clumps without foveal schisis in one patient, which could represent an evolved form of this entity.


CONCLUSIONS
The hereditary foveal juvenile retinoschisis in women suggests an autosomal inheritance (autosomal recessive in our cases) and presents less severe involvement (Arch Soc Esp Oftalmol 2002; 77: 443-448).
Pérez Alvarez
M J
MJ
Hospital Universitario de La Princesa, Madrid, España. mjperezalv@hotmail.com
Clement Fernández
F
F
D000293:Adolescent; D000328:Adult; D005260:Female; D005584:Fovea Centralis; D006801:Humans; D041441:Retinoschisis / Q000175:diagnosis / Q000235:genetics