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JAMA Ophthalmology Clinical Challenge
October 2016

Unusual Photophobia in a Child

Author Affiliations
  • 1Bascom Palmer Eye Institute, Miami, Florida
JAMA Ophthalmol. 2016;134(10):1195-1196. doi:10.1001/jamaophthalmol.2016.1825

A 7-year-old boy with a history of Klinefelter syndrome presented to the pediatric glaucoma service with a 4-year history of intense intermittent photophobia. During the office evaluation, the patient had an uncorrected visual acuity of 20/30 OD and 20/25 OS but was extremely photophobic and would not cooperate with any additional examination. An examination under anesthesia was performed. Intraocular pressures by Tono-Pen XL (Reichert) under light sedation were 13 mm Hg OD and 12 mm Hg OS. Axial lengths by echography were 23.7 mm OD and 23.9 mm OS. Retinoscopy showed bright reflexes in both eyes. Anterior segment examination of each eye showed normal eyelids and lashes, conjunctiva, anterior chamber, iris, and lens. The examination of the cornea of each eye was significant for punctate keratitis in the epithelial and subepithelial layers that stained lightly with fluorescein (Figure). The corneal diameters were normal, and there was no evidence of Haab striae or stromal scarring. The ophthalmoscopic examination was unremarkable.

RetCam photograph demonstrating punctate keratitis in the epithelial and subepithelial layers of the cornea.

RetCam photograph demonstrating punctate keratitis in the epithelial and subepithelial layers of the cornea.

Box Section Ref ID

What Would You Do Next?

  1. Schedule an electroretinogram

  2. Perform corneal cultures

  3. Start topical steroids and cyclosporine A eyedrops

  4. Observe


Thygeson superficial punctate keratitis

What to Do Next

C. Start topical steroids and cyclosporine A eyedrops

Klinefelter syndrome is a genetic disorder characterized by an extra X chromosome in males. Affected males have lower testosterone production, which might have a noticeable effect on appearance (eg, small testicles, reduced muscle mass, reduced body and facial hair, and enlarged breast tissue), as well as learning and behavioral disorders. While there are no known associations between Thygeson superficial punctate keratitis (TSPK) and Klinefelter syndrome, this patient’s presentation was confounded by mild developmental delay, hyperactivity, and behavioral problems associated with Klinefelter syndrome.1 The intermittent, chronic, severe photophobia out of proportion to cursory clinical examination along with poor cooperation from the child can occasionally lead the physician to attribute the findings to nonorganic causes and miss the diagnosis.

Thygeson superficial punctate keratitis was first reported by Phillips Thygeson, MD, in 1950, who described a chronic, bilateral, punctate epithelial keratitis characterized by remissions and exacerbations.2 Patients with TSPK often present with bilateral tearing, photophobia, foreign body sensation, irritation, and occasional blurring of vision during exacerbations. It affects patients of all ages, with no predilection for sex or race/ethnicity.3,4 When the disease is active, slitlamp examination reveals an oval or round conglomerate of coarse, granular, slightly elevated, white-to-gray dots in the central cornea that stain minimally with fluorescein, with little or no hyperemia of the conjunctiva. When inactive, the lesions can disappear or persist as subepithelial opacities that do not stain.4,5 The time course of exacerbations and remissions is highly variable, with the average duration ranging from 3 to 7.5 years,2,3,5 although atypical cases with durations of more than 40 years have been reported.6

The pathophysiology of TSPK remains unclear, although viral and immunologic components have been implicated.5,7 However, most viral cultures, electron microscopy studies, and polymerase chain reaction analyses have shown no evidence of viral DNA.7 Thygeson superficial punctate keratitis has also been associated with HLA-DR3, suggesting an altered immune response as a cause for the chronic course of exacerbations and remissions of the disease.5

Many therapies for TSPK have been tried in the past with unsuccessful outcomes. Antibiotics and antivirals have been shown to be ineffective.7,8 Topical lubricants help alleviate clinical symptoms but do not hasten resolution of the acute episode. Therapeutic extended-wear soft contact lenses provide an alternative treatment, but they may expose the patient to the potential complications of contact lens wear.

Currently, topical low-dose corticosteroids are considered the mainstream treatment.2,8 However, chronic dependence can lead to steroid-associated adverse effects, such as cataract and glaucoma. Recent studies9 have reported good outcomes with the use of cyclosporine A as an adjuvant first-line treatment. Patients may start receiving both medications simultaneously, with subsequent steroid taper as symptoms are controlled. Continued treatment with cyclosporine A will protect patients from recurrences, with the benefit of fewer adverse effects compared with corticosteroids.9,10 In the absence of nystagmus or abnormalities on dilated fundus examination, an electroretinogram would most likely be nonrevealing. Corneal cultures are indicated in cases of corneal ulceration or discharge, neither of which were present in this patient. Because of the recurrent nature of the symptomatic photophobia, observation would not be an appropriate management for this patient.

In summary, TSPK is an uncommon chronic condition that could be potentially underrecognized. Most patients can be successfully managed with a low-dose topical steroids and cyclosporine A, with an excellent long-term visual prognosis.

Patient Outcome

After initiating steroid and cyclosporine A therapy, this patient’s photophobia significantly improved. He was instructed to taper the steroid over the course of 1 month and to continue cyclosporine for 6 months. After 6 months of cyclosporine therapy, the patient denies photophobia, and his corneas remain clear.

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Article Information

Corresponding Author: Kara M. Cavuoto, MD, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, 900 NW 17th St, Miami, FL 33136 (kcavuoto@med.miami.edu).

Published Online: August 4, 2016. doi:10.1001/jamaophthalmol.2016.1825

Conflict of Interest Disclosures: All authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest and none were reported.

Additional Contributions: We thank the parent of the patient for granting permission to publish this information.

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