A Case of DiGeorge Syndrome With Ocular Manifestation

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.