NF2以外の神経線維腫症に関連する可能性のある炎状網膜上膜のスペクトルを拡大する

To characterize the spectral-domain optical coherence tomography (SD-OCT) features of flame-shaped epiretinal membranes (ERMs) in patients with and without neurofibromatosis type 2 (NF2).

This retrospective study included 9 patients (13 eyes) with flame-shaped ERMs from 3 tertiary centres. Multimodal imaging and clinical data were systematically analyzed.

Six of 9 subjects with flame-shaped ERM were confirmed NF2 patients. Among the NF2 cohort of 12 eyes, SD-OCT revealed flame-shaped ERMs in 10 eyes (83%). Flame-shaped ERMs were bilateral in 4 patients (8 eyes) and unilateral in 2 patients (2 eyes). The fellow eyes of these 2 unilateral patients demonstrated combined hamartoma of the retina and retinal pigment epithelium (CHRRPE) and a retinal tuft, respectively. Isolated CHRRPE was noted in 3 eyes (25%) and a retinal tuft in 2 eyes (17%). Multiple retinal findings within the same eye occurred in 3 NF2 patients. By contrast, all 3 non-NF2 patients exhibited unilateral flame-shaped ERMs: 2 with CHRRPE and 1 isolated. OCT angiography performed in 4 patients revealed hyper-reflective foci anterior to the retinal nerve fibre layer in all 3 NF2 patients. During mean follow-up of 6.2 ± 3.4 years, findings remained stable in 78% of patients. One NF2 patient developed intraretinal cysts, while 1 non-NF2 patient underwent vitrectomy.

Flame-shaped ERMs are strongly associated with NF2, and bilateral retinal lesions were present in all NF2 patients. However, they can also occur unilaterally with or without CHRRPE in non-NF2 cases. Early recognition of flame-shaped ERMs enables timely and systematic NF2 evaluation.