Wyburn-Mason syndrome

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.

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Retinal manifestations of the neurocutaneous disorders

Engelhard

Kiss

Gupta

2020

Current Opinion in Ophthalmology

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Wyburn-Mason syndrome

Cited by 1 publication

References 20 publications

Retinal manifestations of the neurocutaneous disorders

Retinal manifestations of the neurocutaneous disorders

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