A Case of Di-George Syndrome With Ocular Manifestation

Kyoung Min Kim; Ji Woong Lee; Bo Young Chun; Jae Pil Shin; Si Yeol Kim

doi:10.3341/jkos.2009.50.12.1909

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Kim, Lee, Chun, Shin, and Kim: A Case of Di-George Syndrome With Ocular Manifestation

Original Article

J Korean Ophthalmol Soc 2009;50(12):1909-1912.

Published online: 7 September 2009

DOI: https://doi.org/10.3341/jkos.2009.50.12.1909

A Case of Di-George Syndrome With Ocular Manifestation

Kyoung Min Kim, MD¹, Ji Woong Lee, MD², Bo Young Chun, MD¹, Jae Pil Shin, MD¹, Si Yeol Kim, MD¹

¹Department of Ophthalmology, Kyoungpook National University, College of Medicine, Daegu, Korea

²Department of Ophthalmology, Pusan National University, College of Medicine, Busan, Korea

Address reprint requests to Jae Pil Shin, MD, Department of Ophthalmology, Kyungpook National University Hospital #50 Samdeok-dong 2-ga, Jung-gu, Daegu 700-721, Korea Tel: 82-53-420-5817, Fax: 82-53-426-6552, E-mail: jpshin@hitel.net

Received 14 January 2009 Accepted 17 August 2009

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Purpose

Di-George syndrome (chromosome 22q11.2 deletion syndrome) is a syndrome of multiple congenital anomalies characterized by hypoplasia or aplasia of the thymus and parathyroid, cardiovascular malformation, immune deficiency, cleft palate, characteristic facial features, and hypocalcemia. Ocular findings of Di-George syndrome are posterior embryotoxon, retinal vascular tortuosity, strabismus, ptosis, amblyopia and tilted optic disc. The authors present a case of Di-George syndrome with ocular manifestation not reported previously in Korea.

Case summary

A six-year old female diagnosed with Di-George syndrome was referred to the authors' department within the hospital. The chief complaint was blurring vision in both eyes. Best corrected visual acuity of the right eye was 0.5 and of the left eye was 0.63. Cycloplegic refraction revealed high hyperopia and astigmatism in both eyes (OD: +7.25 Dsph; −2.5 Dcyl axis 180°, OS: +6.25 Dsph; −3.75 Dcyl axis 180°). In addition, hypertelorism, ptosis and tortuous retinal vessels during fundus examination were noted.

Conclusions

Upon the initial diagnosis of Di-George syndrome in children, a comprehensive ocular examination is necessary because other ocular conditions may exist which can affect the visual development of the patient.

Keywords: Chromosome 22q11.2 deletion, Digeorge syndrome

References

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Figure 1.

Result of fluorescence in situ hybridization (FISH) in this case. A submicroscopic deletion of chromosome 22q11.2 is detected by FISH with two labeled probes. The control probe (ARSA, 22q13.3, labeled green) binds to the end of chromosome 22, whereas the other probe (Tuple 1, 22q11.2, labeled red) binds to a sequence in the region that is commonly deleted in individuals with Di-George syndrome. The chromosome binds only with the ARSA probe, indicative of deletion of this region (green arrow).

Figure 2.

Photographs of the patient. She had no characteristic facial feature of DiGoerge syndrome, but had ptosis of the left eye and hypertelorism.

Figure 3.

Fundus photographs of a case of Di-George syndrome. Retinal vascular tortuosity was noted in this case and this finding was known as relatively frequent ocular features in Di-George syndrome.

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