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Case Reports
. 2025 Aug 29;14(17):6110.
doi: 10.3390/jcm14176110.

Panretinal Congenital Hypertrophy of the RPE in an 8-Year-Old Girl with an X-Linked STAG2 Mutation

Maximilian D Kong  1   2   3 , Mohamed M Sylla  1   2   3 , Jin Kyun Oh  1   2 , Vaidehi S Dedania  4 , Megan Soucy  1 , Aykut Demirkol  2   5 , Scott E Brodie  1 , Irene H Maumenee  1 , Stephen H Tsang  1   2
Affiliations
Case Reports

Panretinal Congenital Hypertrophy of the RPE in an 8-Year-Old Girl with an X-Linked STAG2 Mutation

Maximilian D Kong et al. J Clin Med. .

Abstract

Introduction: Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is a benign proliferation of the melanin-producing retinal pigment epithelium (RPE). Although often a benign and incidental finding, multifocal CHRPE may mimic lesions associated with familial adenomatous polyposis (FAP). Case Description: We describe an 8-year-old girl presenting with optic disc pallor and widespread multifocal bear track CHRPE observed bilaterally on dilated fundoscopy. Fundus autofluorescence (FAF) imaging showed uniform areas of hypoautofluorescence corresponding to the bear track lesions. Spectral domain optical coherence tomography (SD-OCT) demonstrated normal lamination without atrophy. The full-field electroretinogram (ffERG) was within normal limits. Whole-genome sequencing (WGS) revealed a likely pathogenic heterozygous variant in the STAG2 gene (c.3222dup, p.Ser1075IlefsTer12). Conclusions: We present a rare case of bilateral, panretinal bear track CHRPE in a child with a likely pathogenic variant in STAG2. Using multimodal imaging, we contrast bear track lesions of the retina with FAP-associated CHRPE. We also present possible ophthalmic manifestations in carriers of pathogenic STAG2 variants.

Keywords: autofluorescence; congenital hypertrophy of the retinal pigment epithelium (CHRPE); electroretinogram (ERG); inherited retinal disease (IRD); optical coherence tomography (OCT); stromal antigen 2 (STAG2).

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Conflict of interest statement

S.H.T. receives financial support from Abeona Therapeutics, Inc., and Emendo is on the scientific and clinical advisory board for Nanoscope Therapeutics. The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Color fundus photography of an 8-year-old girl with panretinal, bilateral bear tracks, showing temporal pallor and round, flat, hyperpigmented lesions spanning the fundus, including the macula. Lesions start small closer to the disc and then increase in density and size in the periphery. OD = right eye (A); OS = left eye (B).
Figure 2
Figure 2
Autofluorescence and optical coherence tomography imaging of an 8-year-old girl with panretinal, bilateral bear tracks. Autofluorescence imaging of the right (A) and left eye (B) revealed small areas of hypoautofluorescence, consistent with the hyperpigmented lesions observed on fundoscopy. Spectral domain optical coherence tomography imaging (C,D) revealed organized lamination with no photoreceptor layer atrophy, retinal pigment epithelium thickening, or hyperreflectivity at the level of the lesions denoted by red arrows (E,F).
Figure 3
Figure 3
Full-field electroretinogram (ffERG) recordings of an 8-year-old girl with panretinal, bilateral bear track retina. ffERG revealed normal rod and cone amplitudes with no implicit time delay.
See this image and copyright information in PMC

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