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Phakomatosis

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Retinal and Choroidal Imaging in Systemic Diseases

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Abstract

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.

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Authors and Affiliations

  1. Shri Ganesh Vinayak Eye Hospital, Raipur, India

    Nishant Radke

  2. Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA, USA

    Carol L. Shields

  3. Department of Ophthalmology, Johns Hopkins Bayview Medical Center, Baltimore, MD, USA

    J. Fernando Arevalo

  4. Retina Division, Wilmer Eye Institute, The Johns Hopkins University School of Medicine, Baltimore, MD, USA

    J. Fernando Arevalo

  5. Smt.Kanuri Santhamma Retina Vitreous Centre, L. V. Prasad Eye Institute, Kallam Anji Reddy Campus, L.V. Prasad Marg, Banjara Hills, Hyderabad, 500 034, Andhra Pradesh, India

    Jay Chhablani

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  1. Nishant Radke
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  2. Carol L. Shields
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  1. L.V. Prasad Eye Institute, Hyderabad, India

    Jay Chhablani

  2. Sankara Nethralaya, Chennai, India

    Parthopratim Dutta Majumder

  3. The Johns Hopkins University, Baltimore, Maryland, USA

    J. Fernando Arevalo

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Radke, N., Shields, C.L., Arevalo, J.F., Chhablani, J. (2018). Phakomatosis. In: Chhablani, J., Majumder, P., Arevalo, J. (eds) Retinal and Choroidal Imaging in Systemic Diseases. Springer, Singapore. https://doi.org/10.1007/978-981-10-5461-7_11

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