Retinal manifestations of the neurocutaneous disorders

Abstract

Purpose of review The neurocutaneous disorders are a genetically and phenotypically diverse group of congenital syndromes characterized by cutaneous, ocular, and central nervous system manifestations. This review provides an overview of the clinical features and retinal findings in selected neurocutaneous disorders. Recent findings Advances in genetics and diagnostic retinal and neuroimaging allow for the recognition of retinal features of common neurocutaneous syndromes and for improved characterization of rarer entities based on previously underdiagnosed or unrecognized retinal findings. Summary Better characterization of the neurocutaneous disorders allows for earlier recognition and the potential for expeditious vision-saving and life-saving treatment.

The Impact of Optic Nerve Disorders on Sleep Wake

“…Choroidal abnormalities have been observed in up to 100% of patients with NF1, with choroidal nodules and reduction in RNFL thickness described (415,420,426). Other ocular findings include neurofibromas of the eyelid, orbit and uvea, retinal astrocytic hamartomas and combined hamartomas of the retina and retinal pigment epithelium (CHRRPE) (422,(427)(428)(429).…”