Genetic Basis of Optic Nerve Aplasia
Author Information
Author(s): Meire Françoise, Delpierre Isabelle, Brachet Cecile, Roulez Françoise, Van Nechel Christian, Depasse Fanny, Christophe Catherine, Menten Björn, De Baere Elfride
Primary Institution: Queen Fabiola Children's University Hospital, Brussels, Belgium
Hypothesis
Is there an autosomal-dominant genetic basis for nonsyndromic optic nerve aplasia?
Conclusion
This study identifies a potential genetic link between the CYP26A1 and CYP26C1 genes and nonsyndromic optic nerve aplasia.
Supporting Evidence
- An autosomal-dominant form of nonsyndromic optic nerve aplasia was reported in a Belgian family.
- Genome-wide copy number screening revealed a microdeletion on chromosome 10q23.33.
- The deletion included the CYP26A1 and CYP26C1 genes, which are involved in retinoic acid metabolism.
Takeaway
This research found that a family had a rare eye condition called optic nerve aplasia, which might be linked to specific genes.
Methodology
The study involved genetic testing, neuroimaging, and clinical evaluations of a family with optic nerve aplasia.
Limitations
The study's findings may not apply to all cases of optic nerve aplasia due to the small sample size and the presence of unaffected family members with the genetic deletion.
Participant Demographics
The family consisted of a father, his dizygotic twins, and their healthy grandmother, all of Caucasian descent.
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