A 24-year-old male presented for routine follow-up of retinitis pigmentosa (RP), initially diagnosed in 2017. He had a normal birth and developmental history with no systemic features of phakomatoses. Vision was limited to light perception with inaccurate projection of rays in both the eyes, and ocular examination revealed significant nystagmus with advanced bilateral RP and associated bilateral peripapillary, elevated, mulberry-like yellowish lesions lacking intrinsic vascularization Fig. 1. Ultrasound B-scan confirmed the calcified nature of these lesions showing backshadowing Fig. 2—suggestive of Type 2 retinal astrocytic hamartomas (RAHs). The lesions remained stable over multiple visits, suggesting a benign course.Figure 1: (a and b) demonstrate fundus photo image (Zeiss Visucam 524) showing right eye and left eye advanced bilateral retinitis pigmentosa with bilateral peripapillary, elevated, mulberry-like yellowish suggestive of retinal astrocytic hamartomas, respectively, with better delineation on red free images in (c and d)Figure 2: (a and b) demonstrate ultrasound B-scan images showing hyperechoic lesions at disc with backshadowing suggestive of calcificationsRAHs are benign glial tumors often associated with tuberous sclerosis1 but may also occur rarely alongside RP with a reported prevalence of 2.2%.2–4 These lesions may be mistaken for optic disc drusen due to their calcified appearance.5 However, they are distinct entities with differing histology, clinical behavior, and management.5 OCT and fundus autofluorescence, although limited in our case due to nystagmus, can assist in diagnosis by revealing characteristic “moth-eaten” spaces and hyperautofluorescence, respectively. This case underscores the importance of accurately recognizing RAHs in patients with coexisting retinal pathology. Awareness of their benign nature helps prevent misdiagnosis and avoids unnecessary interventions such as anti-VEGF therapy or surgery in stable lesions. Authors’ contributions Concept: IA; Design: IA; Definition of intellectual content: IA, HP; literature search: HP, IA; clinical and experimental studies: IA, HP; data acquisition: HP; data analysis: IA; statistical analysis: NA; manuscript preparation: IA, HP; manuscript editing: IA, HP; manuscript review: IA, HP. 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.
Acharya et al. (Wed,) studied this question.