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. 2023 Feb 15;13(2):337.
doi: 10.3390/jpm13020337.

Atypical Foveal Hypoplasia in Best Disease

Emmanuelle Moret  1 , Raphaël Lejoyeux  1 , Sophie Bonnin  1 , Georges Azar  1 , Jessica Guillaume  2 , Chloé Le Cossec  2 , Justine Lafolie  1 , Anne-Sophie Alonso  1 , Catherine Favard  3 , Isabelle Meunier  4 , Vivien Vasseur  1 , Martine Mauget-Faÿsse  1
Affiliations

Atypical Foveal Hypoplasia in Best Disease

Emmanuelle Moret et al. J Pers Med. .

Abstract

Purpose: To determine the prevalence and characteristics of foveal hypoplasia (also called fovea plana) in patients with Best disease using spectral-domain (SD) optical coherence tomography (OCT) and OCT-angiography (OCT-A).

Design: A retrospective observational study including patients diagnosed with Best disease.

Subjects and participants: Fifty-nine eyes of thirty-two patients (fifteen females (46.9%) and seventeen males (53.1%), p = 0.9) diagnosed with Best disease were included. Patients' eyes were categorized into two groups: Eyes with a fovea plana appearance ('FP group') and eyes without fovea plana appearance ('no FP group'), based on the foveal appearance on B-scan SD-OCT.

Methods and main outcome measures: Cross-sectional OCT images were assessed for the persistence of inner retinal layers (IRL) and OCT-A was analyzed for the presence of a foveal avascular zone (FAZ), the size of which was determined when applicable.

Results: Overall, 16 eyes (27.1%) of 9 patients had a fovea plana appearance ('FP group') with the persistence of IRL, and 43 eyes (72.9%) of 23 patients did not have fovea plana appearance ('no FP group'). Among FP eyes, OCT-A performed in 13 eyes showed bridging vessels through the FAZ in 100% of eyes with OCT-A. Using Thomas classification, 14 out of the 16 eyes with fovea plana (87.5%) had atypical foveal hypoplasia, and the 2 others (12.5%) had a grade 1b fovea plana.

Conclusion: In our series, foveal hypoplasia was present in 27.1% of patients with Best disease. OCT-A showed bridging vessels through the FAZ in all eyes. These findings highlight the microvascular changes associated with Best disease, which can be an early sign of the disease in patients with a family history.

Keywords: Best disease; OCT-A; fovea plana; foveal avascular zone; foveal hypoplasia.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Flow-chart of included patients with Best disease, divided by the aspect of the fovea (fovea plana (FP) or no FP).
Figure 2
Figure 2
Representative case (Patient 2 right eye). (A). Autofluorescence of the right eye showing the intense hyperautofluorescence of the material under the macula. (B). OCT-A of the right eye with bridging vessels across the foveal avascular zone (the slabs contain the superficial and the deep capillary plexuses together). (C). Corresponding OCT-A B-scan of the right eye showing the decorrelation signal in inner retinal layers. (D). Central OCT B-scan from the same patient, with persistence of the outer plexiform layer.
Figure 3
Figure 3
Patient 18. (A,C). Central OCT B-scan of the right eye and the left eye, with persistence of the inner retinal layers. (B,D). OCT-A from the same patient, ((B). right eye, (D). left eye), with bridging vessels across the foveal avascular zone (the slabs contain the superficial and deep capillary plexuses together).
See this image and copyright information in PMC

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