Retinal pigment epithelium rip in a young patient: An unusual presentation

A 44-year-old otherwise healthy male noticed a disturbance of vision in oculus uterque (OU) (oculus dexter (OD) > oculus sinister (OS)) for 15 days. His past ophthalmic record revealed multiple serous pigment epithelium detachments (PEDs) in OU. Best corrected visual acuity (BCVA) was 6/6, N6 in OU. Fundus evaluation revealed features resembling butterfly-shaped pattern dystrophy (BSPD) and a large flat-topped serous PED in OU extending below the fovea OD showed a retinal pigment epithelium (RPE) rip inferotemporal to the macula, sparing the foveal region Figs. 1 and 2. We made a clinical diagnosis of BSPD in OU on the basis of phenotype and multimodal imaging findings. Patient was advised observation in the OU.Figure 1: (a) Giant RPE rip and pigmentary changes in oculus dexter (OD). (b) Serous PED with pigment alteration in oculus sinister (OS). (c) Area of RPE rip (yellow upward arrow) in OD, along with a lesion causing back shadowing (blue downward arrows). (d) Flat-topped PED with hyperpigmented lesions causing back shadowing (blue downward arrows) in OS. Auto-fluorescence imaging (e) and (f) hypoautofluorescence due to lack of RPE. RPE: Retinal pigment epithelium; PED: Pigment epithelium detachmentFigure 2: FFA demonstrating (a) pooling of dye at RPE rip in OD. (b) Brisk hyper-fluorescent area temporal to the fovea, suggestive of resolving serous PED. (a) and (b) Radially branching areas of hypofluorescence with surrounding areas of hyperfluorescence. ICG (c) and (d) showing no neovascular network. RPE: Retinal pigment epithelium; PED: Pigment epithelium detachment, OD: Oculus dexter, FFA: Fundus fluorescein angiography, ICG: Indocyanine greenDiscussion RPE rip is characterized by a tear of the retinal pigmented epithelium.1 Risk factors of RPE rip in the young population include CSCR, choroidal osteoma, and IPCV.2 No cause for serous PEDs was identified on examination in our case. Recently, Anwarzai3 also reported a similar case of bilateral BSPD complicated by the RPE tear in one of the eyes. Saksens et al.4 in their research discovered the mutation in the CTNNA1 gene and its variants in BSPD. Thus, a mutation in the CTNNA1 gene can alter the RPE morphology and integrity. This can lead to the structural weakening of RPE, making it prone to disruption under mechanical stress.4 Sinawat et al.5 described a case wherein the idiopathic PEDs were noted in both eyes of the patient, which later converted to RPE rip. They hypothesize that the surface tension could be the possible reason for the tear. This could be a possible correlation between the occurrence of RPE rip in the case of BSPD. Although in the absence of genetic testing, we could not highlight a particular gene mutation for this case. This case adds up an unusual yet fascinating fundus presentation in the literature. This thought-provoking correlation could be studied further by long-term follow-up of patients with the CTNNA1 gene mutation to evaluate RPE changes and incidence of RPE rip later on if it occurs. Author contributions Jaydeep A Walinjkar: Concepts, Design, Definition of intellectual content, Literature search, Clinical studies, Data acquisition, Manuscript preparation, Manuscript editing, Manuscript review, Guarantor. Afroz Q Patel: Concepts, Design, Definition of intellectual content, Literature search, Clinical studies, Data acquisition, Manuscript preparation, Manuscript editing, Manuscript review, Guarantor. Natarajan Sundaram: Concepts, Design, Definition of intellectual content, Literature search, Manuscript editing, Manuscript review Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for his images and other clinical information to be reported in the journal. The patients understands 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.