Retinitis pigmentosa with acute central serous chorioretinopathy with pachychoroid phenotype

Nikita Goel; Ahana Sen; Surabhi Chattree; Saurabh Kumar; Rupak Roy

doi:10.4103/IJO.IJO_2521_22

CASE REPORT

Year : 2023 | Volume : 3 | Issue : 2 | Page : 423-425

Retinitis pigmentosa with acute central serous chorioretinopathy with pachychoroid phenotype

Nikita Goel¹, Ahana Sen¹, Surabhi Chattree¹, Saurabh Kumar², Rupak Roy¹
¹ Department of Vitreo Retina, Aditya Birla Sankara Nethralaya, Kolkata, West Bengal, India
² Department of Vitreo Retina, Netralayam, Kolkata, West Bengal, India

Date of Submission	01-Oct-2022
Date of Acceptance	28-Nov-2022
Date of Web Publication	28-Apr-2023

Correspondence Address:
Rupak Roy
Aditya Birla Sankara Nethralaya, 147, Mukundapur, E.M. Bypass, Kolkata - 700 099, West Bengal
India

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/IJO.IJO_2521_22

Abstract

We report a case of retinitis pigmentosa (RP) coexisting with acute central serous chorioretinopathy (CSCR) with pachychoroid phenotype. A 37-year-old male showed clinical features of RP in both eyes with acute CSCR in the right eye. Fundus fluorescein angiography showed ink blot hyperfluorescence with focal leakage, which was successfully treated with focal laser. Both eyes showed features of pachychoroid. RP and CSCR occurring simultaneously is very rare and there are only a few reports published in literature, but none with pachychoroid features. We report the first case of RP with acute CSR with pachychoroid phenotype and comment on its treatment outcome.

Keywords: Central serous chorioretinopathy, pachychoroid, retinitis pigmentosa

How to cite this article:
Goel N, Sen A, Chattree S, Kumar S, Roy R. Retinitis pigmentosa with acute central serous chorioretinopathy with pachychoroid phenotype. Indian J Ophthalmol Case Rep 2023;3:423-5

How to cite this URL:
Goel N, Sen A, Chattree S, Kumar S, Roy R. Retinitis pigmentosa with acute central serous chorioretinopathy with pachychoroid phenotype. Indian J Ophthalmol Case Rep [serial online] 2023 [cited 2023 Jun 10];3:423-5. Available from: https://www.ijoreports.in/text.asp?2023/3/2/423/374948

Central serous chorioretinopathy (CSCR) is an idiopathic chorioretinal condition causing loss of central vision due to the accumulation of fluid in the subretinal pigment epithelium space and subsequently in the subretinal space, creating a well-circumscribed serous retinal elevation.^[1]

Recently, it has been recognized that CSCR is a pachychoroid-driven process and has been classified as a part of the pachychoroid spectrum of diseases.^[2] Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of hereditary disorders in which there is progressive loss of photoreceptor and pigment epithelial function.^[3]

There are only a handful of reports which have noted concurrence of CSCR and RP in the same patient.^{[4],[5],[6],[7]} But none of the reported cases have commented on the choroidal thickness of the patients. We report a case of RP with acute CSCR in one eye with pachychoroid phenotype in both eyes.

Case Report

A 37-year-old male presented with the complaint of blurring of vision in both eyes for 1 month. He had no known systemic illness. There was no history of steroid usage. His best corrected visual acuity was counting fingers at 3 m in the right eye and counting fingers at 50 cm in the left eye. The anterior segment in both eyes was within normal limits. Fundus examination showed an epiretinal membrane with arterial attenuation in both eyes, along with few pigmented bony spicules in the peripheral and midperipheral retina in the right eye. Enhanced depth imaging-optical coherence tomography (EDI-OCT) showed epiretinal membrane in both eyes with dilated choroidal vessels (pachyvessels) along with subretinal fluid (SRF) at the macula in the right eye and a dry macula in the left eye. Subfoveal choroidal thickness was 326 μm in the right eye and 589 μm in the left eye. Fundus fluorescein angiography showed an ink blot pattern of hyperfluorescence along with focal area of leakage in the right eye [Figure 1]. Full-field electroretinogram showed nonrecordable rod and cone responses with severely reduced combined and 30-Hz flicker response in both eyes [Figure 2]. A diagnosis of RP in both eyes with acute CSR in the right eye and resolved CSR in the left eye was made. Both eyes showed features of pachychoroid eye disease. Focal laser was done in the right eye for the focal leaks. Follow-up EDI-OCT showed resolution of fluid in the right eye post laser [Figure 3].

Figure 1: (a) Color fundus photograph of the right eye shows pale disk (yellow arrow), attenuated arteries (orange arrow), ERM at the macula (white arrow), midperipheral bony spicules (blue arrow), and RPE alterations in the periphery (black arrow). (b) Color fundus photograph of the left eye shows pale disk (yellow arrow), attenuated arteries (orange arrow), ERM at the macula (white arrow), and RPE alterations in the periphery (black arrow). (c) Structural OCT of the right eye shows ERM (yellow arrow) at the macula with SRF at the fovea (orange arrow) and dilated choroidal vessels (pachyvessels) (white arrow). (d) Fundus fluorescein angiography of the right eye shows multiple focal leaking points (yellow arrow) suggestive of CSCR with peripheral RPE mottling (orange arrow). CSCR = central serous chorioretinopathy, ERM = epiretinal membrane, OCT = optical coherence tomography, RPE = retinal pigment epithelial, SRF = subretinal fluid

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Figure 2: Full-field ERG of both eyes shows grossly reduced scotopic and photopic responses suggestive of retinitis pigmentosa. ERG = electroretinogram

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Figure 3: (a) Structural OCT of the right eye shows ERM (blue arrow) and resolution of subretinal fluid at the macula with dilated choroidal vessels (pachyvessels) (yellow arrows). (b) Structural OCT of the left eye shows ERM (blue arrow) at the macula with dilated choroidal vessels (pachyvessels) (yellow arrows). ERM = epiretinal membrane, OCT = optical coherence tomography

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Discussion

CSCR is a disease of the pachychoroid spectrum, which is characterized by focal or diffuse increase in choroidal thickness, dilated choroidal vessels in Haller's layer (pachyvessels) accompanied by thinning of the choriocapillaris and Sattler's layer with or without retinal pigment epithelium (RPE) abnormalities overlying the pachyvessels.^[2]

RP is a hereditary condition characterized by progressive degeneration of visual cells and abnormalities in RPE.^[3] RP with CSCR is an extremely rare association with only four cases reported in literature of the same till date.^{[4],[5],[6],[7]} But none of these reports have looked into the choroidal changes of the study eyes. Recently, two reports have found an association between CSCR and pachychoroid spectrum eye disease. Appanraj et al.^[8] reported a case of polypoidal choroidal vasculopathy (PCV) associated with sectoral RP, which showed thin choroid on EDI-OCT, unlike typical PCV eyes along with pachyvessels.

Another study by Attanasio et al.^[9] described a case of RP with pachychoroid neovasculopathy and showing choroidal neovascular membrane along with pachyvessels on EDI-OCT.

Literature has shown that patients with RP have a thinner choroid than age-matched normal subjects. It has been hypothesized that a primary vascular dysfunction and increased endothelin level in RP lead to decreased choroidal and retinal blood flow, which leads to thinning of choroid and ultimately photoreceptor damage.^[10]

Our patient had RP with CSCR. On EDI-OCT, dilated choroidal vessels were noted with features of pachychoroid spectrum. The typical thinning of choroid seen in RP was overridden by features of CSCR. This patient showed good response with focal laser, the efficacy of which was confirmed by the resolution of SRF in the follow-up optical coherence tomography (OCT). This is the first reported case of RP with acute CSR with pachychoroid phenotype and provides valuable insights into disease pathophysiology.

Conclusion

In conclusion, RP may present in association with diseases of pachychoroid spectrum and EDI-OCT is an effective tool in the diagnosis and follow-up of such patients.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

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