A Case of 22q11.2 Deletion Syndrome with Right Microphthalmia and Left Corneal Staphyloma

@article{Tarlan2014ACO,
  title={A Case of 22q11.2 Deletion Syndrome with Right Microphthalmia and Left Corneal Staphyloma},
  author={Bercin Tarlan and Hayyam Kıratlı and Esra Kaya Kılıç and Eda Utine and Koray Boduroğlu},
  journal={Ophthalmic Genetics},
  year={2014},
  volume={35},
  pages={248 - 251}
}
Abstract Background: A microdeletion in the chromosome 22q11.2 (DiGeorge or velocardiofacial syndrome) is the most common human deletion syndrome. Patients with 22q11.2 deletion may have a wide range of ocular findings but severe ocular involvement is uncommon. Here, we describe a 2-year-old boy who had growth retardation, developmental delay, right renal agenesis, ventricular septal defect and severe bilateral ocular anomalies. Materials and methods: The systemic and ocular findings and… 
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4 Citations

4 Citations

A Case of 22q11.2 Deletion Syndrome with Peters Anomaly, Congenital Glaucoma, and Heterozygous Mutation in CYP1B1

An 8-year-old patient with 22q11.2 deletion syndrome and bilateral Peters anomaly with congenital glaucoma is reported, found to have a single heterozygous mutation in CYP1B1, c.83C > T, p.(Ser28Trp).

Ocular auto-stimulation and its morbidity in stage 5 retinopathy of prematurity

The post-conceptional age and residual visual function may govern the characteristics of OAS and its resultant morbidity are common occurrences in stage 5 ROP.

Congenital Corneal Opacity in 22q11.2 Deletion Syndrome: A Case Series

A consistent pattern of central clearing related to posterior stromal thinning associated with iridocorneal or keratolenticular adhesions was observed, with or without ICA/KLA in patients with 22q11.2 DS.

Ocular Findings in Children With 22q11.2 Deletion Syndrome.

PURPOSE To identify the ocular features of children diagnosed as having 22q11.2 deletion syndrome in a Turkish population, which is the most common microdeletion syndrome with a wide range of facial…

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