Article ; Online: Bilateral helicoid peri-papillary sub-retinal fibrosis due to a biallelic
European journal of ophthalmology
2024 , Page(s) 11206721241234396
Abstract: Background: To describe different clinical presentations of a same : Design: Interventional family study.: Results: Our first case was a one-year-old male child with high hyperopia and refractive accommodative esotropia. In retinal examination, ... ...
Abstract | Background: To describe different clinical presentations of a same Design: Interventional family study. Results: Our first case was a one-year-old male child with high hyperopia and refractive accommodative esotropia. In retinal examination, peri-papillary sub-retinal fibrosis with a helicoid configuration was observed in both eyes. The parents and the only sibling had no pathologic findings in the eyes. The child showed to have severely reduced responses in both photopic and scotopic electroretinogram components. In the genetic investigation, a homozygous autosomal recessive mutation in the Conclusion: Same |
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Language | English |
Publishing date | 2024-03-05 |
Publishing country | United States |
Document type | Journal Article |
ZDB-ID | 1089461-5 |
ISSN | 1724-6016 ; 1120-6721 |
ISSN (online) | 1724-6016 |
ISSN | 1120-6721 |
DOI | 10.1177/11206721241234396 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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