Retinal Detachment in the Setting of Neurofibromatosis Type 1

Area of Science:

• Ophthalmology
• Genetics
• Dermatology

Background:

• Neurofibromatosis type 1 (NF1) is a genetic disorder with diverse clinical manifestations, including ocular abnormalities.
• Retinal detachment (RD) is a serious ocular condition that can lead to vision loss.

Purpose of the Study:

• To systematically review the existing literature on the association between NF1 and RD.
• To investigate the potential mechanisms linking NF1 to RD.

Main Methods:

• A comprehensive literature search was conducted across Ovid MEDLINE, EMBASE, and PubMed up to February 2024.
• Case reports of RD in patients with NF1 were identified and analyzed.
• A novel case of spontaneous RD in an NF1 patient was also included.

Main Results:

• Twenty-seven cases of NF1-associated RD were identified.
• Fourteen cases were linked to intraocular or intraorbital space-occupying lesions, presenting as exudative RD.
• Thirteen cases, plus a novel case, were spontaneous rhegmatogenous RD, often found incidentally during exams.

Conclusions:

• NF1 may predispose individuals to RD through two primary mechanisms: exudation from lesions or spontaneous rhegmatogenous RD due to collagen abnormalities.
• Further research is warranted to confirm these findings.
• Consideration should be given to extending ocular screening for NF1 patients into adulthood.