BACKGROUND: Ocular neoplasms are relatively rare in infants. Despite this rarity, some pediatric orbital neoplasms are encountered, including retinoblastoma, glioma, rhabdomyosarcoma, leukemic nerve head infiltration, and neuroblastoma or other metastases. Other etiologies of orbital masses include localized infection, inflammation, or developmental anomaly.
CASE REPORT(S). A retrospective case of a 9-year-old Hispanic male with a congenital optic nerve anomaly and retinal hyperpigmentation will be reviewed. The patient was first seen in our infant vision clinic at age 3 with the chief complaint of asymmetric eye size. The patient’s medical history indicated that he was 4 weeks premature. His BVA was 20/60 OD with BVAT pictures and LP OS. Testing revealed 35pd left ET, 18pd left HT, and large anisometropia. He was further diagnosed with microophthalmos OS, underdeveloped optic nerve OS, and retinal pigment clumping OS. Ultrasonography was recommended at that time. The patient was lost to follow-up and did not return for 2 ˝ years, at which time he was again referred for ultrasonography and imaging. B-scan results were suggestive of a subtle compression of the posterior globe at the posterior pole. An orbital CT scan was ordered, which indicated a 7mm retrobulbar mass arising from the posterior globe OS. The patient has been closely monitored for changes in size of mass, stability of fundus pigmentation, ONH appearance, and visual decline. A second CT scan, performed within the last year, confirmed that the mass had not changed.
CONCLUSIONS. Given the patient’s prematurity and overall fundus appearance, there is reason to suspect that the presentation seen is the result of a developmental anomaly. Inflammation, likely secondary to an intrauterine infection, is the most likely etiology of both the congenital retinal hyperpigmentation and the associated ONH abnormality. The infection/inflammation is most likely to have occurred during the first trimester of pregnancy. An intraorbital mass of the type seen in this patient may be the result of scar tissue wrapped around the optic nerve secondary to such an inflammatory process. The patient will continue to be monitored closely.