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Journal Français d'Ophtalmologie
Volume 41, n° 1
pages 21-29 (janvier 2018)
Doi : 10.1016/j.jfo.2017.06.009
Received : 5 January 2017 ;  accepted : 20 June 2017
Articles originaux

Clinical and imaging findings of pattern dystrophy subtypes; Diagnostic errors and unnecessary treatment in clinical practice
Les résultats cliniques et d’imagerie des sous-types de pattern-dystrophies ; les erreurs diagnostiques et les traitements inutiles dans la vie réelle

A. Ozkaya , R. Garip, H. Nur Tarakcioglu, Z. Alkin, M. Taskapili
 Beyoglu Eye Training and Research Hospital, Bereketzade Cami Sok, 34421 Beyoglu, Istanbul, Turkey 

Corresponding author.

To evaluate the clinical and multimodal imaging findings of various pattern dystrophy (PD) subtypes and report the initial misdiagnosis rate of PD patients resulting in unnecessary treatment in actual clinical practice.


Retrospective, observational study. Forty eyes of 24 patients with PD were included. The distribution of PD subtypes, optical coherence tomography (OCT) and fundus autofluorescence (FAF) findings, initial misdiagnoses, revised diagnoses, duration between misdiagnosis and revised diagnosis, and unnecessary treatments administered were evaluated over this time-period.


Twenty-eight eyes (70%) showed adult-onset foveomacular vitelliform dystrophy, 6 eyes (15%) showed butterfly PD (BPD), 4 eyes (10%) showed reticular PD, and 2 eyes (5%) showed PD simulating fundus flavimaculatus and BPD mixed type PD. Most of the patients showed various types of hyperreflective material in the subretinal space on OCT, and hyperautofluorescence on FAF imaging. Eighteen eyes (45%) had a true PD diagnosis initially, whereas 22 (55%) of them were misdiagnosed as age-related macular degeneration, central serous chorioretinopathy, or non-specific RPE change. The mean duration between the initial and revised diagnosis was 18.7±16.8 months. In addition, 5 eyes in the misdiagnosed group underwent intravitreal anti-vascular endothelial growth factor treatment during this period.


Pattern dystrophies are a heterogeneous group of macular disorders which may mimic several macular diseases. By knowing the multimodal imaging findings, especially the distinctive FAF findings of the PDs, we may easily diagnose the disease and save our patients from unnecessary treatments.

The full text of this article is available in PDF format.

Objectif Évaluer les résultats cliniques et d’imagerie multimodale de différents sous-types de pattern-dystrophies (PD) et déterminer le taux d’erreurs diagnostiques initiales de patients souffrant de PD ayant conduit à des traitements inutiles.


Il s’agit d’une étude rétrospective. Quarante yeux de 24 patients atteint de PD ont été inclus. On a évalué la distribution des sous-types de DM, les résultats de la tomographie par cohérence optique (OCT) et de l’autofluorescences du fond d’oeil (FAF), les diagnostics initiaux et révisés, la durée entre le diagnostic initial et le diagnostic révisé, les traitements donnés durant cette période.


Vingt-huit yeux (70 %) présentaient une dystrophie vitelliforme fovéomaculaire de l’adulte (AOFVD), 6 yeux (15 %) présentaient une pattern dystrophie (BDP), 4 yeux (10 %) présentaient une Pattern dystrophie réticulée (RPD) et 2 yeux (5 %) une PD simulant un fundus flavimaculatus (PDSFF) asociée à une DMP. La plupart des patients présentaient différents types de matériel hyper-réflectif dans l’espace sous-rétinien en OCT et une hyperautofluorescence par imagerie en autofluorescence. Dix-huit yeux (45 %) présentaient un véritable diagnostic de PD au début, alors que 22 (55 %) d’entre eux étaient mal diagnostiqués comme une dégénérescence maculaire liée à l’âge ou une choriorétinopathie séreuse centrale ou une modification non spécifique du RPE. La durée moyenne entre le diagnostic initial et le diagnostic révisé était de 18,7±16,8 mois. Aussi, 5 yeux du groupe mal diagnostiqué ont subi un traitement intravitréen d’un anti-VEGF dans cette période.


Les pattern dystrophies représentent un groupe hétérogène de maculopathies qui peuvent imiter plusieurs maladies maculaires. À partir de l’imagerie multimodale, tout particulièrement l’autofluorescence, nous pouvons plus facilement préciser le phénotype et éviter certains traitements inutiles.

The full text of this article is available in PDF format.

Keywords : Autofluorescence, Imaging, Optical coherence tomography, Pattern dystrophy

Mots clés : Autofluorescence, Imagerie, Tomographie par cohérence optique, Dystrophie


Pattern dystrophies (PD) are heterogeneous group of retinal disorders which usually affect both eyes, predominantly at the macula and are considered to have a chronic slow progressive course [1, 2, 3, 4, 5, 6, 7]. Each entity is characterized by specific retinal and retinal pigment epithelium (RPE) alterations such as accumulation of a yellowish, orange, or brown material in the subretinal space between the photoreceptors and RPE, mild to moderate visual loss, a normal or mildly subnormal electro-oculogram and late onset [1, 2, 3, 4, 5, 6, 7]. The age onset is usually variable; however, the complaints of the patients usually occur around the fifth decade [6]. The natural history, in regard to visual acuity is usually stagnant. Some patients may remain asymptomatic throughout life, but severe vision loss may occur in up to 50% of the patients after the age of 70, due to atrophy of the RPE-photoreceptor complex and/or the development of choroidal neovascularization [6, 7]. The main pathological finding in PDs is accumulation of extracellular material beneath the sensory retina at the fovea, which was showed to derive from the photoreceptor outer segments (OS) [3, 6]. Gass has subdivided the PDs into five groups based on the pattern of pigment distribution: adult-onset foveomacular vitelliform dystrophy (AOFVD), butterfly pattern dystrophy (BPD), multifocal pattern dystrophy simulating fundus flavimaculatus (PDSFF), reticular dystrophy of the RPE and fundus pulverulentus [3, 4, 5, 6, 7].

Adult-onset foveomacular vitelliform dystrophy is characterized by a circumscribed, slightly raised, subfoveal yellowish deposits covering approximately one-third of the disc area at each macula [4, 6]. In AOFVD, there is deposition of lipofuscin pigments in the subretinal space, and within the RPE and loss of the RPE and photoreceptor cell layer with infiltration of pigment containing macrophages [3]. Butterfly PD shows yellow or grey pigment deposits at the macula in the subretinal space and at the level of the RPE with loss of RPE and photoreceptor cell layer [3, 4]. Deposits usually consist of 3 to 5 wings, resembling the wings of a butterfly at the macula [8]. In reticular pattern dystrophy (RPD), pigmentation begins at the macular RPE in a typical yellow-grey network, which extends into the periphery in all directions resembling a “fishnet” pattern [3, 4]. In PDSFF, deposits are multiple, yellow, irregular lesions simulating fundus flavimaculatus that can be both central and peripheral [3, 4]. These deposits observed in the subretinal space and/or at the level of the RPE. Fundus pulverulentus is characterized by punctiform and mottled appearance [3].

Optical coherence tomography (OCT) is a non-invasive imaging technique in the retina and remains one of the most useful diagnostic tools to visualize intraretinal morphological changes close to that obtained from histological sections [3, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18]. Spectral domain OCT (SD-OCT) has high resolution and provides a detailed assessment of the vitelliform lesions. It also facilitates quantification of lesion spatial and temporal characteristics [6]. The accumulations secondary to PDs are usually seen as hyperreflective lesions in the subretinal space via SD-OCT. Fundus autofluorescence (FAF) imaging of the retina is a useful, non-invasive imaging technique in the diagnosis and follow-up of several retinal and RPE dystrophies [11]. Fundus autofluorescence derives from the stimulated emission of light and often performed using a short-wavelength excitation light source [16, 17]. The emission of fluorescence signals using this method has been thought to derive from lipofuscin which is an autofluorescence, lysosomal pigment accumulated in the RPE [16, 17]. The most important diseases which have to be distinguished from PD are age-related macular degeneration (AMD) and central serous chorioretinopathy (CSC) in the differential diagnosis [1, 2, 3, 4, 5, 19]. Pattern dystrophies may be misdiagnosed as both dry and wet AMD [19]. Both OCT and FAF imaging are useful tools in the differential diagnosis of PDs from the other macular diseases [9, 10, 11, 12]. We realized that in our daily practice some PD patients were misdiagnosed as AMD or CSC, therefore in this study we aimed to evaluate the clinical and multimodal imaging findings of different PD subtypes and report the initial misdiagnosis of PD patients with given unnecessary treatments in a real life practice.

Materials and methods

This was a retrospective, observational, and non-comparative clinical practice of a consecutive series of patients. The charts of 40 of 24 patients who were diagnosed as PD between 2009 and 2015 were reviewed. The study adhered to the tenets of the Declaration of Helsinki and all state laws in our country. The patients who had a diagnosis of PD and had undergone OCT and FAF imaging were included. The patients were diagnosed as PD by two authors (AO, RG) on the clinical, FAF and OCT findings. The main inclusion criteria were the presence of a round, butter-fly shaped, of irregular yellow spots around the fovea, and/or presence of a hyperreflective deposits in the subretinal space via OCT, and/or absence of deposits with a round hypo reflective area in the subretinal space via OCT, and/or known characteristic FAF patterns of PDs via FAF imaging [6, 16]. The patients who did not yet have obvious diagnosis of PD, the suspiciously diagnosed patients were not included.

Data collected from the patients’ records included age, gender, follow-up time, best corrected visual acuity (BCVA), at the baseline, and at the last follow-up, the subtype of PD, the initial diagnosis, and given unnecessary treatments were recorded.

All patients underwent a standardized examination including measurement of BCVA via the Early Treatment Diabetic Retinopathy Study (ETDRS) chart at 4 meters, slit-lamp biomicroscopy, measurement of IOP via applanation tonometry, and biomicroscopic fundus examination. Fundus photography, OCT and FAF imaging (Spectralis; Heidelberg Engineering, Heidelberg, Germany) were performed. The FAF imaging was obtained as described in the previous studies [16]. Fluorescein angiography (FA) and indocyanine green angiography (HRA-2; Heidelberg Engineering, Heidelberg, Germany) were obtained if needed.

The PD subtypes were divided into 4 subgroups according to the previous studies as; adult-onset foveomacular vitelliform dystrophy (AOFVD), butterfly pattern dystrophy (BPD), reticular pattern dystrophy (RPD), and pattern dystrophy simulating fundus flavimaculatus (PDSFF) [1, 2, 3, 6, 8, 16]. The OCT findings of the patients were divided into four main categories as; dome shaped hyperreflective material in the subretinal space, hypo reflective area in combination with a hyperreflective vitelliform material in a dome shaped subretinal space, dome shaped hypo reflective space between the RPE and the inner segment/outer segment (IS/OS) junction of the photoreceptors, and multiple subretinal hyperreflective deposits. Also, OCT was evaluated in regard to the integrity of inner segment/outer segment (IS/OS) junction of photoreceptors and the integrity of external limiting membrane (ELM). The FAF findings were divided into five main categories as; ring-like, patchy, focal, linear, and reticular hyperautofluorescence.

The initial misdiagnosis was revised at the follow-up visits in regard to the clinical, OCT, FAF, FA, and ICGA findings which were described specifically before in previous studies [6, 19, 20]. The misdiagnosed dry AMD eyes were truly diagnosed as PD usually via the specific FAF findings of PD [6]. The misdiagnosed wet AMD and CSC eyes had their revised diagnosis via not having the specific OCT, FA and ICGA findings of AMD or CSC. The initial diagnose was made in the routine practice of our clinic by 8 different physicians; however, the revised diagnosis was made two authors (AO, RG) via the clinical and multimodal imaging findings.

Primary outcomes of this study included the subtype of PD with the OCT and FAF patterns of each. Secondary outcomes were the initial diagnosis of the patients, the time between the initial diagnosis and revised diagnosis, and the given unnecessary treatments.

Statistical analysis

Categorical variables were presented as numbers and percentages, while numerical variables were expressed as the mean and standard deviation. The statistical evaluation was performed using SPSS (Version 16.0, SPSS Inc., Chicago, IL, USA).


A total of 40 eyes of 24 patients were included in the study. The clinical characteristics are summarized in Table 1. Of the 40 eyes, 28 eyes (70%) had AOFVD, 6 eyes (15%) had BPD, 4 eyes (10%) had RPD, and 2 eyes (5%) had PDSFF&BPD mixed type. The fellow eyes of the patients with unilateral disease showed no abnormality in the fundus examination.

Dome shaped hyperreflective subretinal lesion was detected via OCT (Figure 1a)in 16 of 28 eyes (57.1%) with AOFVD (between the RPE and photoreceptors IS/OS layer). In 6 eyes (21.4%) there was both hypo reflective and hyperreflective areas in the dome shaped lesion (Figure 1b). In 6 eyes (21.4%), there was an optically empty dome shaped space between the RPE and the junction of the IS/OS of the photoreceptors (Figure 1c). The other OCT findings were summarized in Table 2. FAF in AOFVD eyes showed intense hyperautofluorescence corresponding with the circumferential yellow fundus deposits. Fourteen eyes (50%) showed patchy hyperautofluorescence, 6 eyes (21.4%) showed ring-like hyperautofluorescence and 5 eyes (17.8%) showed focal hyperautofluorescence in FAF (Figure 2). In 2 eyes (7.1%) FAF was normal and 1 eye (3.5%) had hypoautofluorescence.

Figure 1

Figure 1. 

Different optical coherence images in adult-onset foveomacular vitelliform dystrophy. Dome shaped hyperreflectivity (top), hyperreflective material with hyporeflective empty space (middle), hyporeflective lesion (bottom).


Figure 2

Figure 2. 

Different fundus autofluorescence patterns in adult-onset foveomacular vitelliform dystrophy. Patchy hyperautofluorescence (left), ring-like hyperautofluorescence (middle), focal hyperautofluorescence (right).


Optical coherence tomography in BPD showed variable hyperreflectivity and demonstrated multiple hyperreflective material between RPE and the IS/OS junction of the photoreceptors in all 6 eyes (100%) (Figure 3). The other OCT findings were summarized in Table 2. Also FAF in BPD showed linear hyperautofluorescence in 5 eyes (83.3%) (Figure 3) and patchy hyper-autofluorescence in 1 eyes (%16.7).

Figure 3

Figure 3. 

Optical coherence tomography and fundus autofluorescence imagings of different types of pattern dystrophies. Optical coherence tomography and fundus autofluorescence imaging of butterfly pattern dystrophy (top row right and left), reticular pattern dystrophy (middle row right and left), pattern dystrophy simulating fundus flavimakülatus and butterfly pattern dystrophy (bottom row right and left).


Optical coherence tomography in RPD showed a central heterogeneous hyperreflectivity in 2 eyes (50%) and multiple hyperreflective materials in 2 eyes (50%) between the RPE and the IS/OS junction of the photoreceptors (Figure 3). The other OCT findings were summarized in Table 2. FAF in RPD demonstrated a typical reticular pattern of hyperautofluorescence at the macula in all of the 4 eyes (100%) (Figure 3).

Optical coherence tomography of PDSFF&BPD mixed type PD showed drusen like multiple hyperreflective material between the RPE and the junction of the IS/OS of the photoreceptors in both two eyes (100%) (Figure 3). FAF in PDSFF&BPD mixed type showed linear hyperautofluorescence like butterfly-shaped at the macula and highly hyperautoflourescent flecks around the retinal vascular arcades and periphery (Figure 3).

Only 18 eyes 40 eyes (45%) had true pattern dystrophy diagnosis, and 22 eyes (55%) were misdiagnosed at the first examination. Eight eyes (25%) were misdiagnosed as dry AMD, 5 eyes (12.5%) as wet AMD, 5 eyes (12.5%) as CSC, and 4 eyes (10%) as non-specific RPE changes at the first examination. The mean duration between the initial- and the revised diagnosis was 18.7±16.8 months (ranging between 2 and 60 months). The misdiagnosis rate according to subtypes was 12/28 (42.8%) in the AOFVD, 6/6 (100%) in the BPD, 2/4 (50%) in the reticular PD, and 2/2 (100%) in the PDSFF&BPD mixed type PD. Also 5 eyes from the misdiagnosed group underwent a mean of 4 anti-VEGF injections; 3 eyes from the AOFVD subgroup, 1 eye from the BPD subgroup, and 1 eye from the PDSFF&BPD mixed type PD subgroup, respectively.


In this study, we reported a detailed evaluation of the OCT and FAF findings in 40 eyes of 24 patients with different types of PDs in a real life practice. Most importantly we tried to highlight the misdiagnosis rate of PDs and the given unnecessary treatments. Only 45% of the eyes were could truly be diagnosed as PD at the initial admission. The remaining 55% was misdiagnosed as AMD, or CSC, or non-specific RPE changes. Also 5 of these misdiagnosed eyes underwent a mean of 4 anti-VEGF injections with the misdiagnosis of wet AMD. The interval between the initial diagnosis and revised diagnosis was 18.7 months which was a quite long time period. The high rate of misdiagnosis is probably secondary to the high number of physicians (8 physicians) who involved the first diagnosis. In our clinic, before 2013 we had 4 retina outpatient clinic examination rooms and the patients were under follow-up in a mixed manner in all these rooms. After 2013 we began to an optimization process in the clinic and divided the patients into 3 groups, vascular diseases in two examination rooms, macular diseases in one examination room, and surgical retina in one examination room. After this process we realized many misdiagnosed patients in the macular diseases section with various group of macular diseases. One of these important groups was misdiagnosed PD patients and this study came into sight after this optimization period. We obtained all necessary multimodal imagings, especially FAF from this group and revised diagnosis could be done properly. The AOFVD subgroup had a misdiagnosis rate of 42.7% which was a quite high rate and most of the patients in this group were misdiagnosed as CSC. The distinctive features of differential diagnosis this group included the known FAF patterns and the stagnant pattern of OCT findings of the group in the follow-up period. All of the six patients were misdiagnosed in the BPD group and the revised diagnose was based upon the FAF findings in this group. All of the patients showed well known hyperautofluorescence patterns of BPD and the revised diagnosis could easily be made after a careful work-up. The misdiagnosis rate was 50% in RPD and 100% PDSFF&BPD groups, respectively which were also very high rates.

Many authors have previously described the clinicopathological, angiographic and tomographic (time and spectral-domain) findings of different PDs. Pierro et al. found a well-defined central subretinal thickening with a dome shape of different sizes at the level of the RPE in all 72 eyes using the earliest generation of OCT with a reduced image resolution [13]. Via the same old version of OCT, Benhamou et al. suggested that the location of the yellowish deposit of material was between the sensory retina and retinal pigment epithelium [12]. This material has been described as dome shaped and often with heterogeneous clumps in the retinal layers [1]. Puche at al. have reported the SD-OCT findings of 60 eyes with AOFVD [14]. They described hyperreflective clumps within the outer plexiform and outer nuclear layers in 28/60 eyes. Spectral domain OCT showed homogeneous hyperreflectivity in 14/60 eyes and heterogeneous hyperreflectivity in 36/60 eyes in their study. They described an optically empty zone between the photoreceptor layer and the material and/or the RPE layer, within the hyperreflective vitelliform lesion in 29/60 eyes [14]. In our study, 28 of 40 eyes had AOFVD. We found that 16 of 28 eyes showed accumulation of dome-shaped hyperreflective material between the RPE and the photoreceptors IS/OS interface. We also found heterogeneous hyperreflectivity in 5/28 eyes, which showed a hypo reflective area in combination with a hyperreflective vitelliform material. The hypo reflective area covered the upper part and the hyperreflective material covered the lower part of the dome shaped area in the fovea. Previous studies suggested that AOFVD has 4 stages correspondingly Best vitelliform dystrophy: vitelliform, pseudohypopyon, vitelliruptive and atrophic stage [15]. In the disease progression throughout the different stages, it is proposed that lesion size was decreased with the resorption or fragmentation of the vitelliform material and photoreceptor layer disruption or loss, lately the lesion ended with a final atrophic area [5, 18]. Our OCT findings showed some stages of this classification. We observed dome shaped hyperreflective lesion between the RPE and photoreceptors layer like in vitelliform stage and in 5 eyes we described nonreflective area upper part of hyperreflective material like in pseudohypopyon stage. This nonreflective area may be confused with the subretinal fluid seen in wet AMD or CSC. But it was typically dome shaped, well circumscribed and remained stable in the follow-up [3]. Also we detected heterogeneous vitelliform material with hyperreflective clumps within the inner retina like in vitelliruptive stage. No eyes showed atrophy during the follow-up. However, as our mean follow-up period was nether so long for a slow progressing disease like PD nor we did not have a very robust longitudinal data, we cannot conclude that the disease progressed according to the previously staging [5, 15, 18]. Nevertheless we had some evidence to support the hypothesis of the staging, OCT showed empty space and atrophic RPE layer under the nonreflective area in 2 eyes which may be a result of atrophic changes after the resolution of hyperreflective material. In BPD patients OCT showed multiple hyperreflective materials all of the eyes. In 2 eyes with RPD, we detected small drusen like multiple hyperreflective materials and the other 2 eyes showed heterogeneous central hyperreflective area between the RPE and photoreceptors layer. OCT demonstrated drusen like multiple hyperreflective materials in PDSFF&BPD mixed type.

We observed hyperreflective clumps within outer nuclear layer (ONL) and outer plexiform layers (OPL) in 7 eyes with AOFVD, 2 eyes with BPD and 2 eyes with RPD and 2 eyes with PDSFF&BPD mixed type. Some of these lesions seemed to be originating from the RPE towards the ONL. Hannan et al. reported the records of 52 eyes with different types of PDs. They observed abnormal expanded hyperreflectivity from the RPE and photoreceptors towards the ONL in 14 eyes included all PD subtypes. They thought that this abnormal hyperreflectivity might be accumulated secondary to unphagocytised outer segments of the photoreceptors, which might occur as a result of RPE dysfunction [3]. Puche et al. suggested that this hyperreflective clumps might be secondary to migrating pigment-laden cells into the outer retina by breaking the ELM [14]. Our study seems to be in accordance with this suggestion. Nearly all of the eyes which showed hyperreflective clumps showed focal loss or disruption of IS/OS of photoreceptors and ELM.

The reason of short-wavelength excited FAF is fluorophores within the RPE. Retinal pigment epithelium lipofuscin distribution is the principal cause for the defined major FAF patterns. Extensive and focal accumulation of lipofuscin is pathologic and may be detected in a variety of retinal dystrophies. Histopathological studies have found an excessive accumulation of lipofuscin and/or A2E which is the major lipofuscin fluorophore in several retinal dystrophies [11]. Furino et al. described four patterns of FAF: patchy, focal, ring-like and linear in PDs [16]. In this study we used a similar classification to describe our FAF findings. Increased FAF was the most common finding in our study similar with the previous studies [11, 16, 17]. We observed hypoautofluorescence in only 1 eye with AOFVD. We thought that this hypoautofluorescence results from atrophic RPE areas. We observed specific FAF patterns depending on the subtype of PD. In AOFVD patients most of the eyes had patchy hyperautofluorescence followed by ring-like and focal hyperautofluorescence. In two eyes, FAF was normal. In BPD patients, FAF showed increased autofluorescence at the pigmented part of the lesions. These hyperautofluorescence areas resembled three to five wing like butterfly shape as defined before. Most of the eyes had linear hyperautofluorescence (%75) and only 1 eye (%25) showed patchy hyperautofluorescence. In RPD, FAF showed hyperautofluorescence characterized by a reticular network resembling a fish-net pattern. Reticular pattern dystrophy can be distinguished from other PD subtypes with this unique FAF finding. FAF showed multiple retinal flecks with increased autofluorescence at the periphery like fundus flavimaculatus and butterfly-shaped hyperautofluorescence at the macula like BPD in 2 eyes with PDSFF&BPD mixed type PD. Differences between the PDSFF and Stargardt’ disease or fundus flavimaculatus are the relatively late age at onset, the comparatively good and stable visual acuity, the autosomal dominant pattern of inheritance and the absence of a “dark choroid” in fluorescein angiography [11].

Our study had several limitations of which most important one is the relatively short follow-up period for a slow progressing disease. Also, follow-up visits were not regular for the documentation of disease progression. However, the patient number was fairly good for a rare disease, and for the first time in the literature we reported the mistaken diagnosis and given unnecessary treatments for the PD patients in a real life practice. In addition, we tried to exhibit the key factors of multimodal imaging for the true diagnosis. Another limitation to our study was that our results might not represent the general ophthalmologic clinical practice as the patient number was relatively low. On the other hand, our clinic is a high volume reference center, which gives us the opportunity to see at least 70 patients with macular diseases excluding those with vascular and surgical pathologies per day, which is a quite big number for a retina clinic. In this vein, we believe that our results may indeed be applicable to the clinical practice in some way.


PDs are heterogeneous group of macular diseases, which may mimic several macular diseases like AMD and CSC. By knowing the multimodal imaging findings, especially the distinctive FAF findings of the PDs, we may easily diagnose the disease and protect our patients from the unnecessary treatments. Hopefully, our results might contribute to ameliorate the outcome of patients with PD.

Authors contributions

Involved in design and conduct of the study (AO, RG, HNT, ZA, MT); preparation and review of the study (AO, RG, HNT, ZA, MT); data collection (AO, RG); and statistical analysis (AO).


No financial support was received for this submission.

Disclosure of interest

The authors declare that they have no competing interest.


The authors thank to Dr. Hande Mefkure Ozkaya for French and English editing of the manuscript and her contribution to the statistical analysis.


Zerbib J., Querques G., Massamba N., and al. Reticular pattern dystrophy of the retina: a spectral-domain optical coherence tomography analyses Am J Ophthalmol 2013 ;  156 : 1228-1237 [inter-ref]
Glacet-Bernard A., Soubrane G., Coscas G. Macular vitelliform degenerations in adults. Retrospective study of a series of 85 patients J Fr Ophthalmol 1990 ;  13 : 407-420[Article in French].
Hannan S.R., de Salvo G., Stinghe A., Shawkat F., Lotery A.J. Common spectral domain OCT and electrophysiological findings in different pattern dystrophies Br J Ophthalmol 2013 ;  97 : 605-610 [cross-ref]
Laloum J.E., Deutman A.F. Peripheral vitelliform lesions in vitelliform macular dystrophy J Fr Ophthalmol 1991 ;  14 : 74-78[Article in French].
Tiosano L., Jaouni T., Averbukh E., Grunin M., Banin E., Chowers I. Bevacizumab treatment for choroidal neovascularization associated with adult-onset foveomacular dystrophy Eur J Ophthalmol 2014 ;  24 : 890-896 [cross-ref]
Chowers I., Tiosano L., Audo I., Grunin M., Boon C.J. Adult-onset foveomacular vitelliform dystrophy: a fresh perspective Progress Retin Eye Res 2015 ;  47 : 64-85 [cross-ref]
Boon C.J., van Schooneveld M.J., den Hollander I.A., and al. Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus Br J Ophthalmol. 2007 ;  91 : 1504-1511 [cross-ref]
van Lith-Verhoeven J.J., Cremers F.P.M., van den Helm B., Hoyng C.B., Deutman A.F. Genetic heterogeneity of butterfly-shaped pigment dystrophy of fovea Mol Vis 2003 ;  9 : 138-143
Adhi M., Duker J.S., Optical coherence tomography-current, future applications. Curr Opin Ophthalmol 2013 ;  24 : 213-221 [cross-ref]
Vinekar A., Mangalesh S., Jayadev C., Maldonado R.S., Bauer N., Toth C.A. Retinal imaging of infants on spectral domain optical coherence tomography Biomed Res Int 2015 ;  2015 : 1-12 [cross-ref]
Fleckenstein M., Charbel Issa P., Fuchs H.A., and al. Discrete arcs of increased fundus autofluorescence in retinal dystrophies and functional correlate on microperimetry. Eye (Lond) 2009 ;  23 : 567-575 [cross-ref]
Benhamaou N., Messas-Kaplan A., Cohen Y., and al. Adult-onset foveomacular dystrophy with OCT3 Am J Ophthalmol 2004 ;  138 : 294-296
Pierro L., Tremolada G., Introini U., Brancato R. Optical coherence tomography findings in adult-onset foveomacular vitelliform dystrophy Am J Ophthalmol 2002 ;  134 : 675-680 [inter-ref]
Puche N., Querques G., Benhamou N., Tick S., Gerard M., Martinelli D., and al. High-resolution spectral-domain optical coherence tomography (SD OCT) features in adult onset foveomacular vitelliform dystrophy Br J Ophthalmol 2010 ;  94 : 1190-1196 [cross-ref]
Querques G., Bux A.V., Prato R., Iaculli C., Souied E.H., Delle Noci N. Correlation of visual function impairment and optical coherence tomography findings in patients with adult-onset foveomacular vitelliform macular dystrophy Am J Ophthalmol 2008 ;  146 : 135-142 [inter-ref]
Furino C., Boscia F., Cardiscia N., Sborgis L., Sborgia C. Fundus autofluorescence, optical coherence tomography and visual acuity in adult-onset foveomacular dystrophy Ophthalmologica 2008 ;  222 : 240-244 [cross-ref]
Wu Z., Luu C.D., Ayton L.N., and al. Fundus autofluorescence characteristics of nascent geographic atrophy in age-related macular degeneration Invest Ophthalmol Vsi Sci 2015 ;  56 : 1546-1552 [cross-ref]
Querques G., Forte R., Querques L., Massamba N., Soudied E.H. Natural course of adult-onset foveomacular vitelliform dystrophy: a spectral-domain optical coherence tomography analysis Am J Ophthalmol 2011 ;  152 : 304-313 [inter-ref]
Amoaku W.M., Chakravarthy U., Gale R., and al. Defining response to anti-VEGF therapies in neovascular AM Eye (Lond) 2015 ;  29 : 721-731 [cross-ref]
Alkin Z., Ozkaya A., Agca A., Yazici A.T., Demirok A. Early visual and morphologic changes after half-fluence photodynamic therapy in chronic central serous chorioretinopathy J Ocul Pharmacol Ther 2014 ;  30 : 359-365 [cross-ref]

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