Abstract
Purpose: Neurofibromatosis type 1 (NF1) is a multisystem neurocutaneous syndrome that includes ocular manifestations. This systematic literature review aimed to examine evidence of an association between NF1 and retinal detachment (RD). Methods: Ovid MEDLINE, EMBASE, and PubMed were searched from database inception to February 2024 for reports of RD related to NF1. An additional case of spontaneous RD in a young patient with NF1 is reported. Results: In total, 27 reported cases of NF1-associated RD were identified, of which 14 were associated with intraocular or intraorbital space-occupying lesions. Lesion-associated RDs were exudative and presented in patients at a median age of 19.6 years (range 10 to 36 years). The remaining 13 cases, and the novel case reported herein of a patient with RD secondary to a giant retinal tear, were spontaneous rhegmatogenous RD, presenting in patients at a median age of 19.1 years (range 22 months to 49 years). The most common presentation of spontaneous RD was an asymptomatic finding on routine exam (55% of reported cases). Conclusions: NF1 may increase the risk of RD through 2 mechanisms: exudation caused by space-occupying intraorbital lesions, or rhegmatogenous RD resulting from irregularities in vitreoretinal adhesion due to abnormal collagen production. While further evidence is needed, extended ocular screening of patients with NF1 into adulthood may be considered.