Retinoschisis and hyperopia associated with partial monosomy of 6q and partial trisomy of 11q
Nika Bagheri1, Reecha S Bahl, Arun D Singh
1Cleveland Clinic Lerner College of Medicine of Case Western Reserve University , Cleveland, OH , USA and.
Insights
Juvenile retinoschisis, typically caused by X-linked gene mutations, was observed in a child with chromosomal abnormalities. This case highlights the importance of ophthalmic exams in diagnosing rare retinoschisis presentations.
Area of Science:
- Genetics
- Ophthalmology
- Clinical Genetics
Background:
- Hereditary retinoschisis, or retinal lamellar splitting, is often linked to juvenile retinoschisis caused by mutations in the X-linked retinoschisis 1 gene.
- Other genetic factors are rarely associated with hereditary retinoschisis.
Observation:
- A 9-year-old male presented with features of partial monosomy 6q and partial trisomy 11q.
- Phenotypic features included myelomeningocele, developmental delays, seizures, microcephaly, scoliosis, and facial dysmorphisms.
- Novel ocular findings of bilateral retinoschisis and hyperopia were observed.
Findings:
- This case report details a rare instance of bilateral retinoschisis and hyperopia in a patient with complex chromosomal abnormalities (6q deletion and 11q duplication).
- The ocular findings were associated with a spectrum of developmental and neurological conditions.
Implications:
- Ophthalmic examinations are crucial for patients with 6q deletions and 11q duplications.
- Early diagnosis and treatment of ocular complications associated with these chromosomal abnormalities are essential.
- This case expands the understanding of genotype-phenotype correlations in chromosomal disorders affecting ocular health.
Background:
Retinoschisis, or retinal lamellar splitting, can occur in a number of hereditary conditions. The most common cause of congenital or childhood onset retinoschisis is the clinical entity known as juvenile retinoschsis, which is caused by mutations in the X-linked retinoschisis 1 gene. Genes other than X-linked retinoschisis 1 gene have rarely been implicated in association with hereditary retinoschisis.
Methods:
We describe a 9-year-old male who presented with several phenotypic features associated with partial monosomy of chromosome 6q and partial trisomy of chromosome 11q, including myelomeningocele, mental and growth retardation, seizures, microcephaly, scoliosis, and facial dysmorphisms, as well as novel ocular findings including bilateral retinoschisis and hyperopia.
Results:
This case report highlights the necessity for a detailed ophthalmic examination of patients with both 6q deletions as well as 11q duplications to ensure accurate and timely diagnosis and treatment of the complications associated with the described ocular conditions.
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