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 Table of Contents  
PHOTO ESSAY
Year : 2022  |  Volume : 34  |  Issue : 1  |  Page : 71-73

Pachychoroid disease mimicking pattern dystrophy


1 Departments of Vitreo-Retinal Service, Chaithanya Eye Hospital and Research Institute, Thiruvananthapuram, Kerala, India
2 Department of Vitreo Retinal Services, Chaithanya Eye Hospital and Research Institute, Thiruvananthapuram, Kerala, India

Date of Submission14-Jun-2021
Date of Acceptance15-Jun-2021
Date of Web Publication21-Apr-2022

Correspondence Address:
Dr. Soman Manoj
Department of Vitreo-Retinal Service, Chaithanya Eye Hospital and Research Institute, Thiruvananthapuram, Kerala
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/kjo.kjo_140_21

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  Abstract 


We report a case of pachychoroid disease with bilateral vitelliform lesions simulating pattern dystrophy. One eye showed spontaneous resolution of the deposits, while the other eye demonstrated recurrent deposition with onset of choroidal neovascular membrane over a 3-year follow-up. The purpose of this manuscript is to highlight the importance of multimodal imaging which would help us to differentiate mimics of pattern dystrophy.

Keywords: Pachychoroid disease, pattern dystrophy, vitelliform lesions


How to cite this article:
Manoj S, Iqbal S, Meleth P, Nair R U. Pachychoroid disease mimicking pattern dystrophy. Kerala J Ophthalmol 2022;34:71-3

How to cite this URL:
Manoj S, Iqbal S, Meleth P, Nair R U. Pachychoroid disease mimicking pattern dystrophy. Kerala J Ophthalmol [serial online] 2022 [cited 2022 May 16];34:71-3. Available from: http://www.kjophthal.com/text.asp?2022/34/1/71/343669




  Introduction Top


Acquired vitelliform lesions (AVL) are subretinal autofluoresecent depositions reported in various dystrophic, degenerative, toxic, paraneoplastic, and vitreoretinal interface disorders involving the macula. The natural course of these lesions is often characterized by a gradual break down and slow resorption, resulting in photoreceptor disruption and eventual atrophy. Here, we are reporting multimodal imaging of a case of bilateral AVL with pachychoroid. This case also demonstrates the observation that these acquired vitelliform deposits herald the transformation of an nonexudative choroidal neovascular membrane (CNVM) to an exudative one.


  Case Report Top


A 67-year-old female reported in 2017 with gradual diminution of vision in RE over the past 1 year. Her BCVA was 6/9 in the right eye and 6/6 in the left eye. Fundus evaluation revealed RPE alterations with vitelliform-like lesions simulating pattern dystrophy in both eyes. The vitelliform deposits were seen on OCT which also revealed pachychoroid features with a shallow pigment epithelial detachment (PED) with subretinal clear spaces in the right eye and a focal extrafoveal double layer sign (DLS) in the left eye [Figure 1]. The typical increased autofluorescence was evident from vitelliform lesion on Blue peak AF [Figure 2]. These deposits also showed increased reflectance on IR imaging [Figure 2]. Even though FFA/ICG angiography did not reveal any neovascular membrane in either eye [Figure 3]a,[Figure 3]b,[Figure 3]c,[Figure 3]d,[Figure 3]e,[Figure 3]f,[Figure 3]g,[Figure 3]h, OCTA showed a nonexudative CNVM in the left eye corresponding to focal DLS [Figure 3]i. There was no positive family history, and EOG was normal. On follow-up over the next 3 years, the right eye showed spontaneous resolution of the vitelliform deposits [Figure 4] and [Figure 5], whereas the left eye demonstrated multiple recurrence of deposition at different locations with progression of nonexudative CNVM to exudative CNVM [Figure 4] and [Figure 5]. As the patient was symptomatic with decrease in BCVA with the occurrence of exudative CNVM in the left eye, she was treated with two doses of intravitreal Ranibizumab which resulted in resolution of fluid and improvement in vision [Figure 6]. She continues to be on follow-up since then.
Figure 1: Spectral domain optical coherence tomography showing pachychoroid features in both eyes with hyperreflective lesions in subretinal space (a and b: Arrows) with a shallow pigment epithelial detachment in subfoveal region of the right eye (a: Arrow head) and similar deposition in the left eye (c) and focal extrafoveal double layer sign (c: Red arrow head)

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Figure 2: BAF revealed increased autofluorescence from vitelliform deposits in both eyes (a and b), while IR images showed corresponding increased reflectance (c and d)

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Figure 3: (a-h) Early and late phase combined FFA/ICGA showing window defects and blocked fluorescence corresponding to vitelliform deposits with no evidence of neovascularization network. Note the abnormal network evident on OCTA (i) in the left eye suggestive of nonexudative choroidal neovascular membrane

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Figure 4: Serial IR images demonstrating in the right eye (a-d) central migration and gradual disappearance of vitelliform lesions and in the left eye (e-h) even though te lesions disappeared initially, it reappeared at different locations in macula

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Figure 5: Serial spectral domain-optical coherence tomography images of the right eye revealing flattening of pigment epithelial detachment (a) and central clumping of vitelliform deposits (b) and later resorption (c and d) while the left eye revealed focal double layer sign (e) and development of extrafoveal fluid (f) managed conservatively and later new vitelliform deposition (g) followed by sub macular fluid (h) necessitating treatment. Note that these new hyper reflective lesions appear before the onset of exudation (g)

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Figure 6: Posttreatment spectral domain optical coherence tomography images showing resolution of subretinal fluid and persistent reflective deposits on IR imaging

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  Discussion Top


Pattern dystrophies are described as a dominantly inherited conditions characterized by variable macular pigmentary and depository changes.[1],[2] The term encompasses 5 key phenotypes summarized by Gass et al.[3] including, adult-onset foveomacular vitelliform dystrophy, butterfly-shaped pigment dystrophy, reticular dystrophy of the pigment epithelium, multifocal pattern dystrophy simulating fundus flavimaculatus, and fundus pulverulentus. These findings are often attributed to gene mutations including PRPH 2, BEST1, ABCA4, CTNNA1, and IMPG1.[4] Although many eyes having primary pattern dystrophy with vitelliform deposits are misdiagnosed as AMD, CSCR, or nonspecific RPE changes,[5] the converse also do occur. Entities such as pachychoroidopathy could present with findings simulating pattern dystrophy.[6]

The older age of the patient,[7] absence of family history,[7] asymmetrical features,[7] appearance of recurrent new deposition, typical choroidal OCT features, and central migration of the deposits as seen in this case could differentiate this mimic from primary pattern dystrophy. Although the finding of PEDs suggests a primary choroidal disease, PEDs have been reported in some forms of Pattern dystrophy as well.[8]

In pachychoroid eyes, primary RPE dysfunction and poor phagocytosis of shed outer segments resulting from compressed choriocapillaris secondary to dilated outer choroidal vessels lead to vitelliform deposition as was seen at baseline in both eyes. Spontaneous resolution occurs when there is sufficient photoreceptor loss to allow for the normal mechanisms of photoreceptor outer segment turnover to “catch up,” whereby RPE phagocytosis of the abnormal subretinal material may occur.[9] This was demonstrable in the right eye in our case. However, the prevalent underlying nonexudative CNVM and later the exudative CNVM could have contributed to recurrent accumulation of vitelliform deposits in the left eye. Thus, unlike other causes of AVL, pachychoroid eyes could have recurrent vitelliform deposits.

This case helps us to understand the relevance of multimodal imaging including IR imaging in eyes with vitelliform deposition that mimic pattern dystrophy. The case also highlights the occurrence of vitelliform lesions in pachychoroid eyes which may be a useful clue when we follow-up these cases as some of these deposits may herald the transformation into exudative CNVM.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Hsieh RC, Fine BS, Lyons JS. Patterned dystrophies of the retinal pigment epithelium. Arch Ophthalmol 1977;95:429-35.  Back to cited text no. 1
    
2.
Watzke RC, Folk JC, Lang RM. Pattern dystrophy of the retinal pigment epithelium. Ophthalmology 1982;89:1400-6.  Back to cited text no. 2
    
3.
Gass JD. Stereoscopic Atlas of Macular Diseases: Diagnosis and Treatment. Missouri, MO: Mosby; 1997.  Back to cited text no. 3
    
4.
Stone EM, Andorf JL, Whitmore SS, DeLuca AP, Giacalone JC, Streb LM, et al. Clinically focused molecular investigation of 1000 consecutive families with inherited retinal disease. Ophthalmology 2017;124:1314-31.  Back to cited text no. 4
    
5.
Ozkaya A, Garip R, Nur Tarakcioglu H, Alkin Z, Taskapili M. Clinical and imaging findings of pattern dystrophy subtypes; Diagnostic errors and unnecessary treatment in clinical practice. J Fr Ophtalmol 2018;41:21-9.  Back to cited text no. 5
    
6.
Warrow DJ, Hoang QV, Freund KB. Pachychoroid pigment epitheliopathy. Retina 2013;33:1659-72.  Back to cited text no. 6
    
7.
Hanif AM, Yan J, Jain N. Pattern dystrophy: An imprecise diagnosis in the age of precision medicine. Int Ophthalmol Clin 2019;59:173-94.  Back to cited text no. 7
    
8.
Puche N, Querques G, Benhamou N, Tick S, Mimoun G, Martinelli D, et al. High-resolution spectral domain optical coherence tomography features in adult onset foveomacular vitelliform dystrophy. Br J Ophthalmol 2010;94:1190-6.  Back to cited text no. 8
    
9.
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;31:13-25.  Back to cited text no. 9
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]



 

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