{"id":24065,"date":"2026-11-08T15:10:23","date_gmt":"2026-11-08T14:10:23","guid":{"rendered":"https:\/\/albertobellone.it\/?p=24065"},"modified":"2026-11-08T15:10:23","modified_gmt":"2026-11-08T14:10:23","slug":"adult-vitelliform-dystrophy-case-report","status":"publish","type":"post","link":"https:\/\/albertobellone.it\/en\/adult-vitelliform-dystrophy-case-report\/","title":{"rendered":"Vitelliform lesion in an adult: late-onset Best disease or adult-onset vitelliform dystrophy?"},"content":{"rendered":"

Dr. Alberto Bellone<\/strong>
Reference Physician, Ophthalmology Functional Unit, Casa di Cura Sedes Sapientiae (Humanitas Group), Turin<\/p>\n

Summary<\/h2>\n

I describe the case of a 64-year-old woman, hyperopic and astigmatic, with reduced vision and a suspicion of Best disease raised at her first visit. In both eyes the macula shows a single yellow, round, subfoveal lesion of about two thirds of a disc diameter. In a single session, on the Nidek Mirante platform, I performed colour fundus imaging with the green, red and infrared channels, fundus autofluorescence, fluorescein angiography and OCT. The picture is the typical one of a vitelliform lesion: hyperautofluorescent material, blocked fluorescence in the early phase with ring staining in the late phase and no leakage, and on OCT a dome-shaped deposit between the photoreceptors and the pigment epithelium, with no fluid.<\/p>\n

That this is a vitelliform lesion is not in doubt; the name of the disease is. Age at onset, size, symmetry and the radial pattern of the pigment epithelium seen in red and infrared light point to adult-onset foveomacular vitelliform dystrophy. Hyperopia and the possibility of late-onset Best disease keep the other hypothesis open. The element that guided the differential diagnosis came from splitting the fundus image into its wavelengths: green light shows the deposit, red and infrared light show the pigment epithelium beneath it. The diagnosis of the disease, however, rests on the electro-oculogram and on genetics.<\/p>\n

Vitelliform lesions: an appearance, not a disease<\/h2>\n

Vitelliform lesions are accumulations of yellowish material in the subretinal space, between the photoreceptor outer segments and the pigment epithelium. They are an appearance, not a disease: they may express an inherited dystrophy or be acquired, in age-related macular degeneration, with pseudodrusen, in chronic central serous chorioretinopathy and in vitreomacular traction [1, 2].<\/p>\n

Among the inherited forms, two resemble each other more than the others. Best disease<\/a> (Best vitelliform macular dystrophy) is autosomal dominant, is caused by variants in the BEST1 gene and is associated with an abnormal electro-oculogram (EOG) [3, 4]. Adult-onset foveomacular vitelliform dystrophy, described by Gass in 1974 [5], is usually diagnosed between 50 and 70 years of age, is mostly sporadic, produces lesions smaller than one disc diameter and in most cases has a normal EOG [1, 2].<\/p>\n

The boundary between the two is not sharp. The same BEST1 gene can cause both pictures, and Best disease can also appear in adulthood: in the largest recent series, 222 patients with a confirmed BEST1 variant, age at first visit ranged from 1 to 85 years [3]. This case sits exactly on that boundary.<\/p>\n

The case<\/h2>\n

History.<\/strong> A 64-year-old woman at her first visit, in July 2025. Hyperopic and astigmatic, she wears multifocal glasses. Ocular history: cornea guttata in both eyes; a brother operated on both eyes for endothelial dystrophy. She reports reduced vision. No family history of macular disease.<\/p>\n

Refraction and visual acuity.<\/strong> Subjective refraction (July 2025): RE +2.75 sph +2.50 cyl \u00d785\u00b0, LE +2.50 sph +2.25 cyl \u00d775\u00b0, that is a hyperopia of about +4 D spherical equivalent in the right eye and +3.6 D in the left. Corrected visual acuity 8\/10 (20\/25) in both eyes; Amsler grid negative. At the September 2026 follow-up, acuity with her current correction had dropped to 5\/10 (20\/40) in both eyes.<\/p>\n

Anterior segment.<\/strong> Cornea guttata, nuclear sclerosis ++ of the lens in both eyes. Intraocular pressure 12 mmHg. On Scheimpflug tomography, anterior chamber depth is 3.12 mm from the epithelium (2.54 mm from the endothelium) with an iridocorneal angle of 34\u00b0 in the right eye: a chamber at the low end of normal, open angle. Endothelial cell density 2534 cells\/mm\u00b2 in the right eye and 2677 in the left.<\/p>\n

Fundus (Fig. 1).<\/strong> In both eyes, at the centre of the macula, a single yellow, round, well-demarcated lesion of about two thirds of a disc diameter, with fine pigment clumps at its edge. No drusen, no deposits outside the fovea, no haemorrhages. Temporal crescent of peripapillary atrophy. The picture is symmetrical.<\/p>\n

\"Colour<\/a>
Figure 1. Colour fundus image (Nidek Mirante). Right eye (OD) and left eye (OS): yellow, round, subfoveal vitelliform lesion of about 2\/3 disc diameter, with fine pigment clumps at the edge. No drusen or other deposits at the posterior pole.<\/figcaption><\/figure>\n

Multimodal imaging<\/h2>\n

All examinations were performed in the same session on the Nidek Mirante, a platform that combines a scanning laser ophthalmoscope (SLO) and OCT. The SLO acquires images with lasers of different wavelengths (blue 488 nm, green 532 nm, red 670 nm, infrared 790 nm), each with its own sensor, so the colour fundus image can be split into its single channels. Autofluorescence, fluorescein angiography and OCT come from the same instrument, with the infrared image co-registered to the scan [9, 10]. The practical advantage is that every image overlays the others: the same lesion can be read layer by layer, at the same magnification and with the same centring.<\/p>\n

Green, red and infrared: two layers of the same lesion<\/h3>\n

This is the part of the examination that weighed most in the differential diagnosis. The monochromatic images separate the lesion into two layers (Fig. 2). Green light (532 nm), absorbed by haemoglobin and melanin, stops at the retina and the subretinal space: it shows the vitelliform deposit, a round, homogeneous disc surrounded by a dark halo, which matches the OCT dome and the autofluorescence plaque.<\/p>\n

Red (670 nm) and infrared (790 nm) light penetrate deeper, pass through the yellow material and reach the pigment epithelium. Here the lesion changes shape: no longer a disc, but an irregular, radial pattern of hyperreflective areas, material and pigment lying against the epithelium in radial arms, smaller than the disc seen in green light. It corresponds to the orange-brown clumps visible at the edge of the lesion on the colour image.<\/p>\n

The vitelliform material is still intact; the irregular pattern lies beneath it, at the level of the pigment epithelium. On the colour image alone the two layers overlap and this information is lost.<\/p>\n

\"Macula<\/a>
Figure 2. Detail of the macula in the green (532 nm), red (670 nm) and infrared (790 nm) SLO channels (Nidek Mirante). Green: round, homogeneous vitelliform deposit, ring-shaped in OD. Red and infrared: beneath the deposit, irregular radial pattern of the pigment epithelium. The scan line and the instrument’s centring marker were removed from the infrared image.<\/figcaption><\/figure>\n

Fundus autofluorescence (FAF)<\/h3>\n

The lesion is intensely hyperautofluorescent in both eyes (Fig. 3). In the right eye it looks like a bright ring with a less luminous centre; in the left eye it is a homogeneous plaque. There are no other hyperautofluorescent spots at the posterior pole and no hypoautofluorescent areas of atrophy. Hyperautofluorescence is the signature of vitelliform material, rich in lipofuscin and in unphagocytosed outer segments [1, 2].<\/p>\n

\"Autofluorescence<\/a>
Figure 3. Fundus autofluorescence (Nidek Mirante). OD: ring-shaped hyperautofluorescent lesion with a less luminous centre. OS: homogeneous hyperautofluorescent plaque. No other foci and no areas of atrophy.<\/figcaption><\/figure>\n

Fluorescein angiography (FA)<\/h3>\n

In the early phase the lesion blocks the choroidal fluorescence and appears as a dark spot over the fovea (Fig. 4). In the late phase the edge of the lesion stains and gives a hyperfluorescent ring around a hypofluorescent centre (Fig. 5). There is no dye leakage, no pooling and no sign of choroidal neovascularisation. This is the angiographic behaviour described for the vitelliform stage [2].<\/p>\n

\"Early-phase<\/a>
Figure 4. Fluorescein angiography, early phase (Nidek Mirante). In both eyes the lesion blocks choroidal fluorescence (hypofluorescent foveal spot). Peripapillary atrophic changes.<\/figcaption><\/figure>
\"Late-phase<\/a>
Figure 5. Fluorescein angiography, late phase (Nidek Mirante). Ring staining of the lesion edge with a hypofluorescent centre. No leakage, no sign of choroidal neovascularisation.<\/figcaption><\/figure><\/p>\n

OCT<\/h3>\n

On OCT<\/a> (Fig. 6) there is a dome-shaped deposit of moderately hyperreflective material under the fovea, between the ellipsoid zone and the pigment epithelium, which lifts the fovea and flattens its depression. The outer retina over the deposit is thinned. There is no intraretinal or subretinal fluid. The posterior hyaloid is partially detached and exerts no traction on the fovea. The deposit was already present in both eyes on the July 2025 OCT.<\/p>\n

\"OCT<\/a>
Figure 6. OCT, 12 mm horizontal scan through the fovea (Nidek Mirante). OD and OS: dome-shaped subfoveal deposit of hyperreflective material between the ellipsoid zone and the pigment epithelium, with no fluid. Posterior hyaloid partially detached, with no foveal traction.<\/figcaption><\/figure>\n

Discussion<\/h2>\n

Why this is a vitelliform lesion<\/h3>\n

All the examinations say the same thing. The lesion is yellow on the fundus, hyperautofluorescent, blocks fluorescence in the early phase and stains as a ring in the late phase without leaking, and on OCT it is subretinal material above the pigment epithelium. This is the vitelliform stage, the first of the four stages described in the adult dystrophy (vitelliform, pseudohypopyon, vitelliruptive, atrophic), the same ones seen in Best disease, where Gass’s classification adds a previtelliform stage [1, 3]. The real question is not what the lesion is, but which disease it expresses.<\/p>\n

Late-onset Best disease or adult-onset vitelliform dystrophy?<\/h3>\n

In favour of the adult dystrophy.<\/strong> Almost everything points to the adult dystrophy: the lesion is single, subfoveal, symmetrical, smaller than one disc diameter, appears after the age of 60, leaves fair vision, and there is no family history of macular disease, whereas Best disease is autosomal dominant. These are the classic criteria of Gass and of later reviews [1, 2, 5].<\/p>\n

The pattern under the deposit.<\/strong> The comparison between green and red light adds an argument. A round, intact vitelliform deposit resting on a pigment epithelium with a radial pattern is the appearance of the pattern dystrophies, the family to which adult vitelliform dystrophy belongs and which is often linked to the PRPH2 gene [1, 2, 5]. In Best disease the vitelliform disc is usually larger and, when it breaks up in the vitelliruptive stage, it is the material itself that fragments [4]. It is a morphological argument, not proof.<\/p>\n

Why Best disease is not excluded.<\/strong> Best disease is not only a disease of childhood. In the Moorfields Eye Hospital series of 222 patients with a BEST1 variant, 77.5% of those who could be classified had their first drop in vision after the age of 18, and 78.7% of eyes were hyperopic [3]. This patient’s hyperopia is therefore compatible, but not decisive: it is common in the population of her age as well. Nor does a negative family history rule it out, because expression of the disease varies widely between carriers [3, 4].<\/p>\n

What decides.<\/strong> The electro-oculogram and genetic testing, which this patient has not had yet. In the same series the EOG light peak to dark trough ratio (Arden ratio) was 1.5 or less in 91% of eyes [3, 8]; in the adult dystrophy the EOG is normal in most cases [1]. Genetic testing completes the picture: a panel including BEST1, PRPH2, IMPG1 and IMPG2 finds the cause in only a minority of adult dystrophies [1, 2], but a BEST1 variant with an abnormal EOG would change the name of the disease and the advice to family members.<\/p>\n

A form to rule out.<\/strong> Autosomal recessive bestrophinopathy must be considered and excluded. It is associated with high hyperopia and sometimes with a shallow anterior chamber and angle closure, but it gives multiple deposits also outside the fovea and fluid in or under the retina [6]. Here the lesion is single, there is no fluid and the angle is open.<\/p>\n

The role of multimodal imaging<\/h3>\n

In this case each examination answered a different question. Autofluorescence confirmed that the material is rich in lipofuscin. Fluorescein angiography ruled out neovascularisation. OCT placed the deposit between the photoreceptors and the pigment epithelium and ruled out fluid and traction. Comparing the green, red and infrared channels showed the radial pattern of the pigment epithelium under the deposit, the element that moves the diagnosis towards the pattern dystrophy family.<\/p>\n

This is possible because all the images come from the same instrument, in the same session, and overlay one another. With different devices, acquired on different days, the comparison between layers becomes approximate, and a detail such as the radial shape, visible in red and infrared but not in green light, can go unnoticed. The limit remains: imaging describes the lesion with great precision, but it does not measure the function of the pigment epithelium and does not read the gene.<\/p>\n

Differential diagnosis<\/h3>\n

Acquired vitelliform lesions.<\/strong> They can occur in age-related macular degeneration. Here, however, there are no drusen or pseudodrusen, either on the fundus or on autofluorescence [7].<\/p>\n

Chronic central serous chorioretinopathy.<\/strong> Vitelliform material can accumulate under an old serous detachment. Here there is no fluid on OCT and no leakage on angiography.<\/p>\n

Vitreomacular traction.<\/strong> The hyaloid is partially detached but does not pull on the fovea.<\/p>\n

Choroidal neovascularisation.<\/strong> Angiography shows no leakage. It is the complication to look for over time, not a current finding.<\/p>\n

Stargardt disease and multifocal pattern dystrophies.<\/strong> There are no flecks and no dark choroid. For comparison, see Stargardt disease<\/a>.<\/p>\n

What this means for the patient<\/h3>\n

Electro-oculogram.<\/strong> Not yet performed; it is the test that separates the two hypotheses, through the Arden ratio [3, 8].<\/p>\n

Genetic testing.<\/strong> Not yet performed; a macular dystrophy panel with PRPH2, BEST1, IMPG1 and IMPG2. The radial pattern puts PRPH2 first. It is needed for the name of the disease and for advice to family members: Best disease is autosomal dominant, while the adult dystrophy is mostly sporadic [1, 3].<\/p>\n

Follow-up.<\/strong> OCT and autofluorescence every 6-12 months. In the adult dystrophy the vitelliform material may grow and then resorb, sometimes leaving atrophy [1, 2].<\/p>\n

Warning signs.<\/strong> Choroidal neovascularisation is rare but possible: roughly 2 to 12% in the adult dystrophy [1], 17% in the Moorfields Best disease series [3]. New distortion of images (metamorphopsia) or a sudden drop in vision must be assessed promptly, because neovascularisation is treated with anti-VEGF drugs<\/a> [2, 3].<\/p>\n

Cataract.<\/strong> Lens sclerosis will lead to cataract surgery<\/a>. In an eye with macular disease I prefer a monofocal lens to multifocal lenses, and the cornea guttata must be assessed before surgery.<\/p>\n

Conclusion<\/h2>\n

A 64-year-old hyperopic woman with a yellow lesion under the fovea in both eyes: the suspicion of Best disease was legitimate. Multimodal imaging on a single platform confirms the vitelliform lesion, shows its stage and, by splitting the light, separates its layers. Age, size, symmetry and the radial pattern of the pigment epithelium under the deposit point to adult-onset vitelliform dystrophy. The distinction is not made with images. It is made with the electro-oculogram and with genetics, and it is a distinction that matters, because it also concerns the patient’s children.<\/p>\n

This case is published anonymously. Images do not replace an examination: the same disease can present differently from one person to another. For an assessment: locations and appointments in Turin and Ivrea<\/a>.<\/em><\/p>\n

References<\/h2>\n
    \n
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  2. Chowers I, Tiosano L, Audo I, Grunin M, Boon CJ. Adult-onset foveomacular vitelliform dystrophy: a fresh perspective. Prog Retin Eye Res<\/em>. 2015;47:64-85. doi:10.1016\/j.preteyeres.2015.02.001<\/a><\/li>\n
  3. Laich Y, Georgiou M, Fujinami K, et al. Best vitelliform macular dystrophy natural history study report 1: clinical features and genetic findings. Ophthalmology<\/em>. 2024;131(7):845-854. doi:10.1016\/j.ophtha.2024.01.027<\/a><\/li>\n
  4. Boon CJF, Klevering BJ, Leroy BP, Hoyng CB, Keunen JEE, den Hollander AI. The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. Prog Retin Eye Res<\/em>. 2009;28(3):187-205. doi:10.1016\/j.preteyeres.2009.04.002<\/a><\/li>\n
  5. Gass JDM. A clinicopathologic study of a peculiar foveomacular dystrophy. Trans Am Ophthalmol Soc<\/em>. 1974;72:139-156.<\/li>\n
  6. Burgess R, Millar ID, Leroy BP, et al. Biallelic mutation of BEST1 causes a distinct retinopathy in humans. Am J Hum Genet<\/em>. 2008;82(1):19-31. doi:10.1016\/j.ajhg.2007.08.004<\/a><\/li>\n
  7. Freund KB, Laud K, Lima LH, Spaide RF, Zweifel S, Yannuzzi LA. Acquired vitelliform lesions: correlation of clinical findings and multiple imaging analyses. Retina<\/em>. 2011;31(1):13-25. doi:10.1097\/IAE.0b013e3181ea48ba<\/a><\/li>\n
  8. Constable PA, Bach M, Frishman LJ, Jeffrey BG, Robson AG. ISCEV Standard for clinical electro-oculography (2017 update). Doc Ophthalmol<\/em>. 2017;134(1):1-9. doi:10.1007\/s10633-017-9573-2<\/a><\/li>\n
  9. Wyl\u0119ga\u0142a A, Wozniak P, S\u0119dziak-Marcinek B, Bolek B, Szkodny D, Wyl\u0119ga\u0142a E. Retro-mode in NIDEK Mirante: a comparative analysis with other imaging modalities for AMD and CSR. Diagnostics (Basel)<\/em>. 2023;13(17):2846. doi:10.3390\/diagnostics13172846<\/a><\/li>\n
  10. NIDEK Co., Ltd. Scanning Laser Ophthalmoscope Mirante: technical brochure (laser sources 488, 532, 670 and 790 nm; colour, single channels, autofluorescence, fluorescein angiography, OCT).<\/li>\n<\/ol>\n","protected":false},"excerpt":{"rendered":"

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