Focal choroidal excavations (FCE) are characterized by foveal or perifoveal choroid excavations seen on optical coherence tomography (OCT). The authors report a case of FCE associated with a vitelliform lesion within the excavation. A case of FCE associated with a small vitelliform lesion has been described previously, but the larger extent of the vitelliform lesion observed in the current case has not been previously reported. This may represent a novel category of FCE, vitelliform focal choroidal excavation, in which deposition of vitelliform material is associated with its development.
[Ophthalmic Surg Lasers Imaging Retina. 2014;45:e26–e28.
From the Department of Ophthalmology & Visual Sciences, University of British Columbia, Vancouver, British Columbia, Canada.
The authors have no financial or propriety interest in the materials presented herein.
Address correspondence to Farzin Forooghian, MD, MSc, FRCSC, Department of Ophthalmology, St. Paul’s Hospital, 1081 Burrard Street, Vancouver, BC V6Z 1Y6, Canada; 604-806-8168; fax: 604-806-8058; email:
Received: December 13, 2013
Accepted: February 06, 2014
Posted Online: May 30, 2014
Focal choroidal excavations (FCE), initially described by Jampol et al, are typically characterized by foveal or perifoveal choroid excavations seen on optical coherence tomography (OCT) that present with a normal clinical examination and mostly a stable clinical course.1,2 Recent reports have associated FCE with choroidal neovascularization, central serous chorioretinopathy, and polypoidal choroidal vasculopathy.3–5 FCE can be further classified as being conforming or nonconforming, with the former indicating a preserved photoreceptor–retinal pigment epithelium (RPE) complex within the excavation, and the latter referring to a detachment of the outer retina from the underlying RPE within the excavation.5 The etiology remains unknown, but congenital or acquired malformations have been suggested to be the cause,1,6 while some support a viral or an inflammatory basis to the disease.5,7
We report a case of FCE associated with a vitelliform lesion within the excavation. Although a case of FCE associated with a small vitelliform lesion has previously been described by Margolis et al,5 the larger extent of the vitelliform lesion observed in our case has not been previously reported. We propose that this may represent a novel category of FCE, vitelliform focal choroidal excavation (VFCE).
A 50-year-old healthy man presented with meta-morphopsia and best corrected visual acuity (BCVA) of 20/30 in the left eye. Ophthalmic examination of the right eye yielded normal findings, with a BCVA of 20/20.
Ophthalmic examination of the left eye was remarkable for a yellowish foveal lesion consistent with a vitelliform lesion (Figure 1B). On fundus autofluorescence examination, the lesion was hyperautofluorescent (Figure 1C). Spectral-domain OCT (SD-OCT) showed a subretinal vitelliform lesion with associated excavation of the choroid (Figure 1A). Disruption of the inner segment and outer segment (IS/OS) junction could be observed within the area of the excavation (Figure 1A). Central subfield thickness and center point foveal thickness were both normal on SD-OCT (289 μm and 257 μm, respectively). At the time of this report, 1 year after presentation, the patient has remained stable with no change in BCVA or appearance of the macular lesion.
Vitelliform focal choroidal excavation. (A) Spectral-domain optical coherence tomography scan through the fovea reveals a focal choroidal excavation with an area of subretinal hyperreflectivity corresponding to a vitelliform lesion. (B) Color photograph of the left eye reveals a subfoveal yellowish spot consistent with a vitelliform lesion. (C) Fundus autofluorescent image of the left eye reveals a focal area of hyperautofluorescence corresponding to the vitelliform material.
Vitelliform lesions occur in a variety of macular disorders, such as Best disease and adult-onset vitelliform macular dystrophy.8,9 Accumulation of vitelliform material has been attributed to RPE dysfunction, which impairs photoreceptor outer segment turnover.8 Persistent deposition of unphagocytosed outer segments on the apical surface of the RPE further impairs turnover due to the lack of apposition between the outer segments and RPE.8 Autofluorescent precursors of lipofuscin including A2E and its primary precursors A2PE, A2PE-H2, and A2-rhodopsin are found in the photoreceptor outer segments prior to phagocytosis by RPE, contributing to the hyperautofluorescence observed.10,11 Furthermore, loss of apposition, along with a delay in phagocytosis secondary to RPE dysfunction, may result in a greater yield of A2PE and an increased level of autofluorescent precursors in the extracellular vitelliform material.9
To the authors’ knowledge, this is the second reported case of a vitelliform lesion associated with FCE. It is unclear whether the FCE contributed to the formation of the vitelliform lesion or vice versa. It could be reasoned that the dysfunctional RPE within a conforming FCE led to accumulation of vitelliform material. Alternatively, unphagocytosed outer segments that are shed within a nonconforming FCE could break down in the subretinal space and form the vitelliform material. Long-term natural history studies are needed in order to determine whether vitelliform lesions arise in association with conforming versus nonconforming FCE or both.
We propose that this case represents a novel category of FCE, namely VFCE, in which deposition of vitelliform material is associated with its development. The etiology of this condition is still unknown, and previously suggested etiologies of FCE such as congenital and acquired structural abnormalities and viral causes may also contribute to the formation of VFCE. Further studies are required to fully understand the pathogenesis of this condition.
- Jampol LM, Shankle J, Schroeder R, Tornambe P, Spaide RF, Hee MR. Diagnostic and therapeutic challenges. Retina. 2006;26(9):1072–1076. doi:10.1097/01.iae.0000248819.86737.a5 [CrossRef]
- Wakabayashi Y, Nishimura A, Higashide T, Ijiri S, Sugiyama K. Unilateral choroidal excavation in the macula detected by spectral-domain optical coherence tomography. Acta Ophthalmol. 2010;88(3):e87–e91. doi:10.1111/j.1755-3768.2010.01895.x [CrossRef]
- Say EA, Jani PD, Appenzeller MF, Houghton OM. Focal choroidal excavation associated with polypoidal choroidal vasculopathy. Ophthalmic Surg Lasers Imaging Retina. 2013;44(4):409–411.
- Xu H, Zeng F, Shi D, Sun X, Chen X, Bai Y. Focal choroidal excavation complicated by choroidal neovascularization. Ophthalmology. 2014;121(1):246–250. doi:10.1016/j.ophtha.2013.08.014 [CrossRef]
- Margolis R, Mukkamala SK, Jampol LM, et al. The expanded spectrum of focal choroidal excavation. Arch Ophthalmol. 2011;129(10):1320–1325. doi:10.1001/archophthalmol.2011.148 [CrossRef]
- Kumano Y, Nagai H, Enaida H, Ueno A, Matsui T. Symptomatic and morphological differences between choroidal excavations. Optom Vis Sci. 2013;90(4):e110–e118. doi:10.1097/OPX.0b013e31828736f3 [CrossRef]
- Savastano MC, Rispoli M, Di Antonio L, Mastropasqua L, Lumbroso B. Observed positive correlation between Epstein-Barr virus infection and focal choroidal excavation [published online ahead of print Nov. 6, 2013]. Int Ophthalmol. doi:10.1007/s10792-013-9874-8 [CrossRef].
- Freund KB, Laud K, Lima LH, Spaide RF, Zweifel S, Yannuzzi LA. Acquired Vitelliform Lesions: correlation of clinical findings and multiple imaging analyses. Retina. 2011;31(1):13–25. doi:10.1097/IAE.0b013e3181ea48ba [CrossRef]
- Spaide RF, Noble K, Morgan A, Freund KB. Vitelliform macular dystrophy. Ophthalmology. 2006;113(8):1392–1400. doi:10.1016/j.ophtha.2006.03.023 [CrossRef]
- Liu J, Itagaki Y, Ben-Shabat S, Nakanishi K, Sparrow JR. The biosynthesis of A2E, a fluorophore of aging retina, involves the formation of the precursor, A2-PE, in the photoreceptor outer segment membrane. J Biol Chem. 2000;275(38):29354–29360. doi:10.1074/jbc.M910191199 [CrossRef]
- Fishkin N, Jang YP, Itagaki Y, Sparrow JR, Nakanishi K. A2-rhodopsin: a new fluorophore isolated from photoreceptor outer segments. Org Biomol Chem. 2003;1(7):1101–1105. doi:10.1039/b212213h [CrossRef]