AI Article Synopsis
- 22q11.2 deletion syndrome is a genetic disorder from a deletion on chromosome 22 that impacts multiple body systems, including vision.* -
- A case study of a 34-year-old woman with this syndrome showed novel eye issues, specifically epithelial basement membrane dystrophy, identified through detailed eye tests.* -
- The findings suggest EBMD might be a new eye-related symptom of 22q11.2DS, indicating the need for further research into possible genetic connections.*
Article Abstract
Background: 22q11.2 deletion syndrome (22q11.2DS) is a genetic disorder caused by the deletion of the q11.2 band of chromosome 22. It may affect various systems, including the cardiovascular, immunological, gastrointestinal, endocrine, and neurocognitive systems. Additionally, several ocular manifestations have been described.
Results: We report a case of a 34-year-old female diagnosed with 22q11.2DS who presented with visual discomfort and foreign body sensation in both eyes. She had no history of recurrent ocular pain. A comprehensive ophthalmological examination was performed, including anterior segment optical coherence tomography and in vivo confocal microscopy. Overall, the exams revealed bilateral corneal map-like lines, dots, and fingerprint patterns, consistent with a diagnosis of epithelial basement membrane dystrophy (EBMD). In addition to presenting with this novel corneal manifestation for 22q11.2 DS, we review the ocular clinical features of 22q11.2DS in the context of our case.
Conclusions: The EBMD may represent a new corneal manifestation associated with 22q11.2 syndrome, although the link between these conditions is unknown. Further research is warranted to investigate potentially shared genetic or molecular pathways to the understanding of the phenotypic variety observed among this rare syndrome.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11355887 | PMC |
| http://dx.doi.org/10.3390/life14081006 | DOI Listing |
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