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

  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},
  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… 
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).

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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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The novel finding of sclerocornea suggests that a genetic locus at 22q11.2 may be involved in anterior segment embryogenesis and should be added to the clinical manifestations of the 22q 11.2 deletion syndrome.

Ocular findings in the chromosome 22q11.2 deletion syndrome.

Unilateral Peters' anomaly in an infant with 22q11.2 deletion syndrome.

This is the second case of the 22q11.2 microdeletion syndrome in association with Peters’ anomaly in the literature, and a 4-month-old boy is presented, referred for facial dysmorphic findings.

22q11.2 deletion syndrome

22q11.2 deletion syndrome is now known to have a heterogeneous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as palatal, gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioural phenotypes and psychiatric illness — all far extending the original description of DiGeorge syndrome.

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The number of individuals diagnosed depends on the experience and awareness of the syndrome among specialists who encounter these children and also the severity of the phenotype, and the higher frequency of 22q11DS found in Gothenburg is an example of increased awareness.

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The risk for severe psychiatric illness is 25 times higher for people affected with velo-cardio-facial syndrome than that of the general population, and interest in understanding the nature of psychiatric illness in the syndrome remains strong.