Retinal Microvascular Abnormalities in Neurofibromatosis Type 1 Associated with Congenital Retinal Macrovessels

Shinji Makino,Katsuhisa Endoh,Hironobu Tampo

doi:10.1155/2013/604191

Abstract

Here, we report a case of retinal microvascular abnormalities in a patient with neurofibromatosis type 1 (NF1) associated with congenital retinal macrovessels. An abnormal retinal macrovessel, crossing the macula horizontally, was detected in the right eye. Additionally, retinal microvascular abnormalities were detected. Eight years after the initial visit, the retinal microvascular abnormalities were noted to have changed substantially. We speculate that retinal microvascular abnormalities in NF1 may change dynamically over the years.

Highlights

The presence of congenital retinal macrovessels, a phenomenon first described by Brown et al [1] in 1982, is rare
Neurofibromatosis type 1 (NF1), an autosomal dominant disorder with a high mutation rate, is considered a neurocristopathy characterized by pathological hamartomatous proliferations of neural crest-derived tissues
A minimum of 2 of the following criteria are required for diagnosis: 6 or more cafe-au-lait spots, 2 or more cutaneous neurofibromas, 1 or more plexiform neurofibromas, axillary or groinal freckling, optic glioma, 2 or more iris Lisch nodules, distinctive bony lesions, and a first-degree relative with neurofibromatosis type 1 (NF1) [6]

Summary

Introduction

The presence of congenital retinal macrovessels, a phenomenon first described by Brown et al [1] in 1982, is rare. A minimum of 2 of the following criteria are required for diagnosis: 6 or more cafe-au-lait spots, 2 or more cutaneous neurofibromas, 1 or more plexiform neurofibromas, axillary or groinal freckling, optic glioma, 2 or more iris Lisch nodules, distinctive bony lesions, and a first-degree relative with NF1 [6]. Among these criteria, iris Lisch nodules are frequently observed and well recognized. We report a case of retinal microvascular abnormalities in NF1 associated with the presence of a congenital retinal macrovessel. This patient’s retinal microvascular abnormalities changed dynamically throughout the follow-up period

Case Report

Findings

Discussion