J Korean Ophthalmol Soc.  2009 Dec;50(12):1909-1912. 10.3341/jkos.2009.50.12.1909.

A Case of DiGeorge Syndrome With Ocular Manifestation

• Kim KM
• Lee JW
• Chun BY
• Shin JP
• Kim SY

• KMID: 2213008
• DOI: http://doi.org/10.3341/jkos.2009.50.12.1909

Abstract

PURPOSE
DiGeorge 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 DiGeorge syndrome are posterior embryotoxon, retinal vascular tortuosity, strabismus, ptosis, amblyopia and tilted optic disc. The authors present a case of DiGeorge syndrome with ocular manifestation not reported previously in Korea. Case summary: A six-year old female diagnosed with DiGeorge 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 180degrees, OS: +6.25 Dsph; -3.75 Dcyl axis 180degrees). In addition, hypertelorism, ptosis and tortuous retinal vessels during fundus examination were noted.
CONCLUSIONS
Upon the initial diagnosis of DiGeorge syndrome in children, a comprehensive ocular examination is necessary because other ocular conditions may exist which can affect the visual development of the patient.

Keyword

Chromosome 22q11.2 deletion; Digeorge syndrome

MeSH Terms

Amblyopia
Astigmatism
Axis, Cervical Vertebra
Child
Cleft Palate
DiGeorge Syndrome
Eye
Female
Humans
Hyperopia
Hypertelorism
Hypocalcemia
Korea
Retinal Vessels
Retinaldehyde
Strabismus
Thymus Gland
Vision, Ocular
Visual Acuity
Retinaldehyde

Figure

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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).

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  Figure 2. Photographs of the patient. She had no characteristic facial feature of DiGoerge syndrome, but had ptosis of the left eye and hypertelorism.

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  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.

Reference

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