[Importance of family examination in juvenile X-linked retinoschisis].
BACKGROUND
Congenital (juvenile) retinoschisis belongs to the group of hereditary vitreoretinopathies. This disorder is inherited in an X-linked recessive pattern and its onset usually occurs in 5- to 10-year-old boys. Presenting clinical signs include decreased visual acuity due to maculopathy.


METHODS
The authors present a case of a 17-year-old boy with decreased visual acuity, hypermetropia, and bilateral retinoschisis with maculopathy upon fundus examination. In view of a 50% risk of the disorder occurring in the brothers of the affected male, they underwent full ophthalmological and electrophysiological examinations (until then asymptomatic). In one of them decreased visual acuity, mixed astigmatism, and maculopathy were present, without any changes of the peripheral retina. In the youngest brother decreased visual acuity, hypermetropia, and maculopathy were diagnosed.


CONCLUSIONS
Genetic counseling and ophthalmological examination of family members at risk facilitated early recognition of the pathological changes in the siblings. Genetic counseling with pedigree analysis and genetic analysis, if possible, should be offered to all affected patients and family members.
Kłosowska-Zawadka
A
A
Augenklinik, Universität, Poznań, Polen. aklososwska@wp.pl
Bernardczyk-Meller
J
J
Gotz-Wieckowska
A
A
Krawczyński
M
M
D000293:Adolescent; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008297:Male; D010375:Pedigree; D041441:Retinoschisis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D035781:Siblings; D014786:Vision Disorders / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics*