Nishant Radke, Carol L. Shields, J Fernando Arevalo, Jay Chhablani

Research output: Chapter in Book/Report/Conference proceedingChapter


Phakomatoses, also known as oculo-neuro-cutaneous syndromes, are multisystem disorders affecting the eye with varied manifestations. They are primarily either choristomas or hamartomas. Retinal astrocytoma primary or acquired is an ocular manifestation of tuberous sclerosis while neurofibromatosis 1 may manifest in a very diverse manner ranging from lid neurofibromas, iris nodules, choroidal naevi, astrocytomas and optic nerve gliomas. Neurofibromatosis 2 usually manifests as a combined hamartoma of the retina and retinal pigment epithelium along with an epiretinal membrane (ERM). Sturge-Weber syndrome manifests with choroidal haemangiomas and glaucoma. Racemose cavernous haemangioma, retinal capillary haemangioma are other types of vascular pathologies seen as a part of phakomatosis while the choroidal melanoma is a serious manifestation seen as a part of oculodermal melanocytosis. In this chapter we describe the findings and features of phakomatoses using imaging techniques like fundus fluorescein angiography (FFA), indocyanine angiography (ICG), fundus photography, spectral domain optical coherence tomography (OCT), wide field imaging, fundus autofluorescence and the newer techniques such as OCT-angiography and adaptive optics.

Original languageEnglish (US)
Title of host publicationRetinal and Choroidal Imaging in Systemic Diseases
PublisherSpringer Singapore
Number of pages24
ISBN (Electronic)9789811054617
ISBN (Print)9789811054594
StatePublished - Dec 29 2017

ASJC Scopus subject areas

  • General Medicine


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