Unusual Case of Indolent Choroidal Alterations Mimicking Neurofibromatosis Type 1

Abstract

Indolent, non-progressive choroidal alterations can be strongly suggestive of neurofibromatosis type 1 (NF1) but are also rarely of unknown aetiology. A 63-year-old man presented for a routine examination. Comprehensive ophthalmological examination and retinal imaging was performed. Visual acuity was 20/20. The anterior segment and fundus were unremarkable. Near-infrared reflectance (NIR) with spectral-domain optical coherence tomography showed unilateral hyperreflective areas in the left posterior pole, corresponding to choroidal nodules on enhanced depth imaging and hypofluorescent areas on indocyanine green angiography. Dermatological evaluation and genetic testing for NF1 were negative. Chest computed tomography, liver function, HLA-A29, and angiotensin-converting enzyme level were negative. The patient has remained in good health and the choroidal alterations have remained non-progressive for 3 years. Choroidal alterations observed with NIR could be a manifestation of somatic mosaicism or a variation of a new unclassified correlated condition that may be better elucidated in the future, given the use of novel imaging techniques that are currently available in ophthalmology.

Keywords

• choroidal alterations
• near-infrared reflectance
• neurofibromatosis type 1
• choroidal imaging
• spectral-domain optical coherence tomography