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| OPHTHALMIC IMAGES |
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| Year : 2020 | Volume
: 58
| Issue : 3 | Page : 220-221 |
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The eyes shout, what the body fears to say
Kirandeep Kaur1, Bharat Gurnani2, Shivanand Narayana2, K Veena1
1 Department of Pediatric Ophthalmology and Strabismus, Aravind Eye Hospital, Puducherry, India
2 Department of Cornea and Refractive Services, Aravind Eye Hospital, Puducherry, India
| Date of Submission | 08-Apr-2020 |
| Date of Acceptance | 01-May-2020 |
| Date of Web Publication | 14-Sep-2020 |
Correspondence Address:
Dr. Kirandeep Kaur
Department of Pediatric Ophthalmology and Strabismus, Aravind Eye Hospital, Thavalakuppam, Cuddalore Main Road, Puducherry - 605 007
India
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/tjosr.tjosr_37_20
How to cite this article:
Kaur K, Gurnani B, Narayana S, Veena K. The eyes shout, what the body fears to say. TNOA J Ophthalmic Sci Res 2020;58:220-1 |
A 10-month-old male infant was brought by his mother with the complaints of redness and watering of right eye for the past 3 months. There was a history of use of various eye drops for the past 3 months. His mother gave a history of recurrent respiratory tract infections and delayed developmental milestones. On ocular examination, there were wide set eyes [Figure 1], right eye revealed an epithelial defect with well-defined margins [Panel a], facial asymmetry, absent right nasolabial fold, deviation of mouth toward left [Panel b], cleft palate, and microtia. Systemic examination revealed hypotonic limbs. Audiogram revealed conductive hearing loss in the right ear. Echocardiography suggested tetralogy of Fallot and ventricular septal defect, significant enough needing cardiac intervention. | Figure 1: Panel (a) showing the right eye epithelial defect with stromal haze, which was secondary to weak orbicularis oculi. Panel (b) showing deviated angle of mouth and an abnormally low set small ear
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| What is the Ocular Diagnosis? | |  |
- Congenital glaucoma
- Sterile corneal ulcer
- Intraocular foreign body
- Infected corneal ulcer.
| Which of the Following Syndromes are Most Closely Associated With These Abnormalities? | | |
- Mobius syndrome
- Congenital facial palsy
- Goldenhar syndrome
- DiGeorge syndrome.
| What is the Best Management for This Patient? | | |
- Continue conservative treatment with antibiotic and lubricant eye drops
- Cyanoacrylate glue with bandage contact lens
- Debridement of epithelial margins with bandage contact lens
- Full-thickness keratoplasty.
| Answers | | |
1. b
2. d
3. c.
| Discussion | | |
DiGeorge syndrome is a microdeletion syndrome, with an incidence of 1:4000 live births, and can potentially affect every organ in the body.[1] DiGeorge syndrome is caused by 22q11.2 deletion.[2] Approximately 50% have ophthalmic manifestations;[3] therefore, children should undergo complete ophthalmic examination on diagnosis and regular screenings thereafter. Due to varied phenotypic presentations, diagnosis can be challenging. Goldenhar syndrome is another close differential which can be ruled out as it is often associated with eyelid colobomas, limbal dermoids, and preauricular tags. Ophthalmic manifestations can be the initial clinical clue toward early detection of this rare entity. Genetic analysis helps in differentiating these closely related syndromes. This patient was managed with debridement of the epithelial margins, and a bandage contact lens was applied. The patient is doing well on sequential follow-ups. The patient was referred to the tertiary center where he was undertaken for stent surgery.
Declaration of the patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient's mother has given her consent for his images and other clinical information to be reported in the journal. The patient's mother understands that his names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | | |
| 1. | Casteels I, Casaer P, Gewillig M, Swillen A, Devriendt K. Ocular findings in children with a microdeletion in chromosome 22q11.2. Eur J Pediatr 2008;167:751-5.  |
| 2. | Packham EA, Brook JD. T-box genes in human disorders. Hum Mol Genet 2003;12:R37-44. |
| 3. | Forbes BJ, McDonald-McGinn DM, Wootton G, Dawson L, Zackai E, Binenbaum G. Ocular findings associated with chromosome 22q11.2 duplication. J AAPOS 2016;20:278-80. |
[Figure 1]
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