Bilateral Symmetrical Outer Retinal Abnormalities Sparing the Macula in an Infant

A full-term male infant was found to have bilateral retinal abnormalities on neonatal eye screening after birth. He had developmental delay, pituitary-related hormone deficiencies, low thyroid hormone levels, and low serum insulin-like growth factor-1, suggesting hypothalamic-pituitary involvement. Multimodal ophthalmic evaluation was performed at 7 months of age after his general condition had stabilized. Fundus photographs of the right (A) and left (B) eyes showed symmetrical, extensive white, cord-like reticular lesions located beneath the retinal vessels, with sparing of the macular region. Intraoperative optical coherence tomography (OCT) of the right (C) and left (D) eyes revealed hyperreflective material in the outer retina. Ophthalmic follow-up over approximately 3 years showed no appreciable progression of the retinal lesions ( Figure 1 ).

Figure 1

Multimodal imaging findings of bilateral retinal abnormalities in the infant. A. Color fundus photograph of the right eye showing extensive white, cord-like reticular lesions located beneath the retinal vessels, with sparing of the macular region. B. Color fundus photograph of the left eye showing similar symmetrical retinal lesions. C. Intraoperative OCT image of the right eye demonstrating hyperreflective material in the outer retina. D. Intraoperative OCT image of the left eye showing similar hyperreflective material in the outer retina.

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Sep 20, 2026 | Posted by in OPHTHALMOLOGY | Comments Off on Bilateral Symmetrical Outer Retinal Abnormalities Sparing the Macula in an Infant

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