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[Importance of family examination in juvenile X-linked retinoschisis]
A Kłosowska-Zawadka1, J Bernardczyk-Meller, A Gotz-Wieckowska
1Augenklinik, Universität, Poznań, Polen. aklososwska@wp.pl
Insights
Early screening of male siblings is crucial for congenital retinoschisis, an X-linked disorder. Prompt genetic counseling and ophthalmological exams aid in early detection and management of this hereditary vitreoretinopathy.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Congenital retinoschisis is an X-linked recessive hereditary vitreoretinopathy.
- Typically affects boys aged 5-10 years with decreased visual acuity due to maculopathy.
Observation:
- A 17-year-old male presented with decreased visual acuity, hypermetropia, and bilateral retinoschisis with maculopathy.
- Asymptomatic brothers underwent ophthalmological and electrophysiological examinations due to a 50% risk.
- One brother showed decreased visual acuity, mixed astigmatism, and maculopathy; the youngest had decreased visual acuity, hypermetropia, and maculopathy.
Findings:
- Early detection of congenital retinoschisis in siblings through proactive examinations.
- Maculopathy was a consistent finding across affected family members.
- Peripheral retinal changes were not observed in the examined siblings.
Implications:
- Genetic counseling and regular ophthalmological screening are vital for families with X-linked retinoschisis.
- Early diagnosis facilitates timely intervention and management of visual impairment.
- Pedigree analysis and genetic testing can enhance diagnostic accuracy and family planning.
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.
Case Report:
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.
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