This healthy 9YO boy was referred for asymptomatic retinal changes in his right eye. Vision was 20/25 OU. The left eye was normal.
Optos color RG imaging shows a greenish hyperpigmented lesion in the macula extending into the superior midperiphery. Diffuse macular thickening is noted on swept-source OCT. En face imaging offers another multimodal perspective. En face of the internal limiting membrane/vitreous interface shows the epimacular fibrosis, while en face of the outer plexiform layer shows variable fingerprint-like whorls centrally.
Learning Points:
In 2017, Govetto et al described an OCT finding of ectopic inner foveal layers (EIFL) associated with epiretinal membranes (AJO 2017;175:99-113). The findings range from mild underlying retinal changes (stage 1, thin ERM with foveal depression), widening of the ONL and loss of foveal depression (stage 2), and ERM continuous with EIFL crossing the entire foveal area (stage 3). All retinal layers are clearly visualized in stages 1 through 3. In stage 4, the ERM is thick, and all retinal layers are disrupted. Vision is worse with increasing stage severity. It is also associated with worse postoperative visual recovery (Yang et al, Retina 2022;42:1472-1478).
The ‘fingerprint sign’ is a unique en face OCT finding described by Griffin et al (Retina 2021;41:381-386) that appears as concentric, fingerprint-like waves of Henle’s layer underlying epiretinal membranes. The authors found that the undulating OPL creates hyperreflective lines when oriented perpendicular to the incident OCT beam and hyporeflective lines when parallel to it.
Combined hamartomas are classically described as benign congenital lesions composed of glial cells, vascular tissue, and pigmented retinal pigment epithelial cells. However, more recent data indicate that these lesions primarily arise from the inner retinal layers (Chawla et al, AJO 2017;181:88-96).
Hamartomas and severe macular puckers can look very similar, even to some of the most seasoned retina specialists. OCT may be helpful in differentiating these entities (Ophthalmic Surg Lasers Imaging Retina 2017;48;122-125). In our experience, we feel that many ‘combined hamartomas’ described in the literature are most likely severe macular pucker with ectopic inner retina layers as in our case.
