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Year : 2023  |  Volume : 3  |  Issue : 2  |  Page : 533-534

Ocular manifestations of DiGeorge syndrome: A diagnostic dilemma

Department of Ophthalmology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India

Date of Submission17-Oct-2022
Date of Acceptance23-Nov-2022
Date of Web Publication28-Apr-2023

Correspondence Address:
P Jayasri
Department of Ophthalmology, JIPMER, Puducherry - 605 006
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/IJO.IJO_2729_22

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A 20-year-old woman with facial features of DiGeorge syndrome came for a regular ophthalmic examination. She had hypoparathyroidism with hypocalcemic tetany and severe anemia but no cardiac anomalies. On ophthalmic examination, the visual acuity was 6/6 OU. She had bilateral eyelid hooding, ptosis, esophoria, posterior embryotoxon, and dilated, tortuous vessels with disc edema in the fundus. Bilateral vascular tortuosity and disc edema could mimic established papilledema or plus disease, which has significant treatment implications. Hence knowledge of ocular and systemic features is essential in providing recommendations for DiGeorge syndrome.

Keywords: DiGeorge syndrome, disc edema, hypoparathyroidism, posterior embryotoxon, retinal vascular tortuosity

How to cite this article:
Jayasri P, Stephen M, Kasturi N, Kaur A. Ocular manifestations of DiGeorge syndrome: A diagnostic dilemma. Indian J Ophthalmol Case Rep 2023;3:533-4

How to cite this URL:
Jayasri P, Stephen M, Kasturi N, Kaur A. Ocular manifestations of DiGeorge syndrome: A diagnostic dilemma. Indian J Ophthalmol Case Rep [serial online] 2023 [cited 2023 Jun 5];3:533-4. Available from: https://www.ijoreports.in/text.asp?2023/3/2/533/374980

DiGeorge syndrome is a part of chromosome 22q11.2 deletion syndrome. This chromosomal abnormality is quite rare and seen in 1 in 4000 live births.[1] DiGeorge syndrome and velocardiofacial syndrome are the commonly described autosomal dominant, chromosome 22q deletion syndrome with typical facial and systemic features. Other less common disorders under the spectrum include Takao syndrome (the conotruncal anomaly face syndrome) and Cayler cardio-facial syndrome.[2] Systemic manifestations include immune deficiency, cardiac defects like tetralogy of Fallot and ventricular septal defect, metabolic abnormalities especially hypocalcemia, skeletal abnormalities with long tapering fingers, hearing and speech impairment, and cleft palate. Classic facial features are periorbital fullness, upward slanted palpebral fissure, a bulbous tip of the nose, hypoplastic nares, small mouth, and dysmorphic ears.[3] Ocular manifestations of this syndrome can mimic various other common and serious ocular diseases like papilledema and retinopathy of prematurity, which have various implications on treatment. We report a case of DiGeorge syndrome with typical facial features along with metabolic abnormality and severe anemia. She had varied ocular manifestations, including bilateral disc edema with vascular tortuosity that had a diagnostic dilemma with established papilledema.

  Case Report Top

A 20-year-old woman with a diagnosis of DiGeorge syndrome presented for ophthalmic evaluation. The patient had varied systemic features like a long face, widened nasal bridge (hypertelorism), prominent nose with a bulbous tip, malformation of the ears, tapering of the fingers, high, arched palate, multiple dental caries with gingival inflammation, and bilateral pes cavus. The patient had a low serum calcium level and was diagnosed to have hypoparathyroidism with hypocalcemic tetany; typical signs like a carpopedal spasm, Chvostek's sign, and Trousseau's sign positive. The patient had been evaluated by an expert physician panel and started on oral calcium supplementation for the condition. The patient also had severe pallor with low hemoglobin of 4.4 gm% and was started on hematinics.

On ophthalmic examination, OU visual acuity was 6/6. The patient had bilateral eyelid hooding and mild ptosis in both eyes. Ptosis measurements were done, and the patient had a levator palpebrae superioris function of 12 mm in both eyes. Cover-uncover test revealed esophoria. Prominent and anteriorly displaced Schwalbe's line, that is, posterior embryotoxon, was noted. Fundus examination showed the presence of dilated and tortuous vessels and bilateral disc edema [Figure 1]. The presence of the above retinal findings often misleads to other diagnoses, especially papilledema, that warrant neuroimaging and more aggressive management strategies and multi-disciplinary approaches. This patient did not have any clinical features of raised intracranial tension (ICT), and neuroimaging was normal.
Figure 1: Color fundus photograph of the patient showing the presence of disc edema in both eyes with dilated tortuous retinal vessels

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  Discussion Top

DiGeorge syndrome, which is a part of 22q11.2 deletion syndrome, can have a wide range of systemic and ocular features. Most patients will have immune deficiency often due to thymus hypoplasia and can also, less commonly, be associated with life-threatening T cell deficiency, which can present with severe systemic infections.[3] Common cardiac defects include tetralogy of Fallot, aortic arch abnormality, and cardiac septal defect. Facial dysmorphism in the form of cleft palate and ear deformity is not uncommon. Few patients can have nonverbal learning difficulties. Typical facial features include hypertelorism, prominent ears, overfolded helices, and micrognathia. Metabolic dysfunctions are commonly associated with and include growth hormone deficiency and parathyroid dysfunction. Rare associations include hearing loss, seizures, and kidney diseases.

In this report, our patient had facial features of DiGeorge syndrome with metabolic disturbance in the form of hypoparathyroidism with hypocalcemic tetany and severe anemia. Ocular manifestations were varied, including widened nasal bridge, esophoria, and posterior embryotoxon. Dilated fundus examination showed bilateral disc edema and vascular tortuosity, which, during the initial presentation, made us think of papilledema and eventually worked for the same, which turned out to be expected.

No other signs of raised ICT and systemic features made us rule out papilledema, and literature search showed few similar findings in patients with chromosome 22q11.2 deletion syndrome.[4],[5],[6],[7],[8] The proposed mechanism for vessel tortuosity can be delayed maturation of pericytes of retinal vessels, which are derived from the cranial neural crest, and the phenotypic changes in DiGeorge syndrome are also proposed to be due to delayed or arrested maturation of cranial neural crest cells.[9] Another reason, in this case, could be due to severe anemia. Few reports had shown posterior embryotoxon and retinal vascular tortuosity with disc edema to be the consistent ocular feature in DiGeorge syndrome [Table 1]. A study reported on retinal vessel tortuosity mimicking plus disease in retinopathy of prematurity in newborn children with low birthweight.[10]
Table 1: Table depicting summary of previous similar publications on DiGeorge syndrome

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  Conclusion Top

DiGeorge syndrome can have varied ocular manifestations, and this case report emphasizes the common ocular manifestations and its other clinical mimickers like papilledema and retinopathy of prematurity in newborns, which could have significant treatment implications. Hence a sound knowledge of ocular manifestations is essential in providing screening recommendations for these patients.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.


The authors wish to acknowledge the patient for complete cooperation.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Kim DJ, Hyun YY, Choi HM. DiGeorge syndrome diagnosed by hypocalcemic tetany. Korean J Med 2006;70:299-301.  Back to cited text no. 1
Forbes BJ, Binenbaum G, Edmond JC, DeLarato N, McDonald-McGinn DM, Zackai EH. Ocular findings in the chromosome 22q11.2 deletion syndrome. J AAPOS 2007;11:179-82.  Back to cited text no. 2
Digilio M, Marino B, Capolino R, Dallapiccola B. Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome). Images Paediatr Cardiol 2005;7:23-34.  Back to cited text no. 3
Mansour AM, Goldberg RB, Wang FM, Shprintzen RJ. Ocular findings in the velo-cardio-facial syndrome. J Pediatr Ophthalmol Strabismus 1987;24:263-6.  Back to cited text no. 4
Girgis RA, McKee HD, Innes JR. Swollen optic discs in a patient with the chromosome 22q11.2 deletion syndrome. Br J Ophtalmol 2004;88:591-2.  Back to cited text no. 5
Kozak I, Ali SA, Wu WC. Novel retinal observations in a child with DiGeorge (22q11.2 deletion) syndrome. Am J Ophthalmol Case Rep 2022;27:101608.  Back to cited text no. 6
Gokturk B, Topcu-Yilmaz P, Bozkurt B, Yildirim MS, Guner SN, Sayar EH, et al. Ocular findings in children with 22q11.2 deletion syndrome. J Pediatr Ophthalmol Strabismus 2016;53:218-22.  Back to cited text no. 7
von Scheibler ENMM, van der Valk Bouman ES, Nuijts MA, Bauer NJC, Berendschot TTJM, Vermeltfoort P, et al. Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study. Am J Med Genet A 2022;188:569-78.  Back to cited text no. 8
Etchevers HC, Vincent C, Le Douarin NM, Couly GF. The cephalic neural crest provides pericytes and smooth muscle cells to all blood vessels of the face and forebrain. Development 2001;128:1059-68.  Back to cited text no. 9
Hill VE, Pietucha S, Ells AL. Congenital vascular tortuosity in DiGeorge syndrome mimicking significant retinopathy of prematurity. Arch Ophthalmol 2004;122:132–3.  Back to cited text no. 10


  [Figure 1]

  [Table 1]


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