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Case Reports
. 2024 Nov 1:36:102217.
doi: 10.1016/j.ajoc.2024.102217. eCollection 2024 Dec.

Ovoid foveal hyperreflective lesions as a sign of familial adenomatous polyposis: A case series and review

Serena Shah  1 , Francisco Lopez-Font  1 , Davina Malek  1 , Jason Fan  1 , Natasha Ferreira Santos da Cruz  1 , Catherin Negron  1 , Basil K Williams Jr  1 , Audina M Berrocal  1
Affiliations
Case Reports

Ovoid foveal hyperreflective lesions as a sign of familial adenomatous polyposis: A case series and review

Serena Shah et al. Am J Ophthalmol Case Rep. .

Abstract

Purpose: To report 2 cases of presumed retinal hamartoma (RH) in pediatric patients with genetically-confirmed familial adenomatous polyposis (FAP), both evaluated by optical coherence tomography (OCT) and one evaluated with optical coherence tomography angiography (OCTA).

Observations: A six-year-old girl presented with occasional blurry vision in the left eye. OCT showed a foveal hyperreflective lesion with disruption of photoreceptors and retinal pigment epithelium (RPE). A nine-year-old female with a past medical history of FAP presented with progressively decreasing vision and floaters in the right eye for the past 6 months. OCT showed a well-demarcated hyperreflective ovoid lesion in the fovea. OCTA revealed no flow signal within the lesion, as well as a second smaller hyperreflective lesion temporal to the fovea. Both patients were diagnosed with presumed retinal hamartoma in the setting of FAP.

Conclusions and importance: Presumed RH can occur in genetically-confirmed, pediatric FAP. On OCTA imaging, these lesions show no intrinsic vascularity. Evaluation with OCT and knowledge of foveal changes in these patients can help identify underlying systemic disease.

Keywords: Familial adenomatous polyposis; Optical coherence tomography angiography; Retinal astrocytic hamartoma.

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Conflict of interest statement

The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Disclosures and Conflicts of Interest: Serena Shah, Francisco Lopez-Font, Davina Malek, Jason Fan, Natasha Ferreira Santos da Cruz, and Catherin Negron have no conflicts of interest to disclosure. Basil K. Williams Jr. is a consultant for Alcon, Allergan, Alimera, Astellas, Castle Biosciences, EyePoint Pharmaceuticals, Genentech, Immunocore, and Regeneron and he has stock options with Lumata Health. Audina M. Berrocal is a consultant for Alcon, Allergan, Zeiss, Dutch Ophthalmic Research Center, Novartis, ProQR, and Oculus.

Figures

Fig. 1
Fig. 1
(A) Fundus photography shows two, small, flat, pigmented ocular fundus lesions (POFLs) along the arcades, one located superiorly and one located inferior to the disc, in the right eye. (B) Fundus photography shows a presumed retinal hamartoma (RH), approximately a quarter disc in size, in the left eye. (C) Fluorescein angiography (FA) shows small hyperfluorescent lesions and leakage in the macula in the left eye. (D) OCT shows normal foveal contour and disruption of photoreceptors and retinal pigment epithelium (RPE) in the presumed RH in the left eye.
Fig. 2
Fig. 2
(A, B) Fundus photography shows superior peripapillary atrophy around the disc, a small hypopigmented lesion in the fovea, peripheral scattered hypopigmented changes in the posterior pole, and no vessel sheathing in the right eye. (C, D) Fluorescein angiography (FA) shows staining at the disc, macula, and periphery around the lesions with no clear vascular or disc leakage in the right eye. (E) Optical coherence tomography (OCT) shows a well demarcated ovoid lesion in the fovea in the right eye. (F, G) Optical coherence tomography angiography (OCTA) of the deep capillary plexus (DCP) shows a discrete hyperreflective lesion in the nasal region of the fovea without flow signal, as well as a second smaller hyperreflective lesion in the temporal region of the fovea in the right eye. (H, I) Fundus photography and FA is unremarkable in the left eye.
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