case_images: PMC11719343_01
case_images: Case 1: 15-year-old male with one year of progressively blurry vision. A. Humphrey automated perimetry in each eye reliable and full at presentation. B. Fundus photos showing mild temporal disc pallor in both eyes (white arrows). C. Optical coherence tomography (OCT)-retinal nerve fiber layer (RNFL) from presentation demonstrating a borderline normal for age average RNFL with marked thinning of the papillomacular bundle in both eyes (blue arrows). D. OCT-ganglion cell layer (GCL) confirms generalized thinning and early optic atrophy in both eyes. (For interpretation of the references to color in this figure legend, the reader is referred to the Web version of this article.)
case_images: gr1b.jpg
case_images: PMC11719343_01_gr1b.jpg
case_images: fig1
case_images: Humphrey automated perimetry was normal in each eye (Fig. 1A). On dilated fundus exam, mild temporal disc pallor was noted bilaterally (Fig. 1B). Optical coherence tomography (OCT)-retinal nerve fiber layer (RNFL) thickness measurements showed normal global thickness but temporal thinning bilaterally (Fig. 1C). OCT-ganglion cell layer (GCL) volume demonstrated generalized reduction compared to institutionally derived pediatric norms (Fig. 1D).
case_images: PMC11719343_02
case_images: PMC11719343_03