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Atlas of Ocular Optical Coherence Tomography pp 335–374Cite as

Hereditary Disease

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Abstract

This chapter comprises a discussion and optical coherence tomography (OCT) images of various hereditary diseases, a literature review, and illustration of OCT changes and images that demonstrate individual diseases. It is divided into the following sections. (1) Retinitis pigmentosa, which refers to a group of disorders characterized by a progressive, inherited dysfunction of retinal photoreceptors with eventual cell loss and atrophy. We clearly demonstrate special OCT changes in this common disease and its complications such as cystoid macular edema. The most important OCT sign for this hereditary retinal disease is vanishing of the hyperreflective inner segment/outers segment junction (IS/OS) layer at the far periphery of the macula. (2) Vitelliform macular dystrophy or Best’s disease, which is a rare autosomal dominant disorder. This chapter demonstrates various stages in the disease evolution from the subclinical stage to the atrophic stage and OCT images and findings. (3) Familial drusen or Doyne honeycomb disease. (4) Cone dystrophy and the differential diagnosis of similar OCT findings. (5) X-linked retinoschisis; (6) Alport maculopathy (collagen IV related nephropathy). (7) Congenital macular folds. (8) Foveal dysplasia (hypoplasia) and aplasia. (9) Aberrant macular vessels. (10) Pattern macular dystrophy. (11) Metabolic disorders such as Tay-Sachs disease. (12) Macular coloboma.

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Authors and Affiliations

  1. Noor Ophthalmology Research Center, Noor Eye Hospital, No. 96, Esfandiar Blvd., Vali’asr Ave., Tehran, Iran

    Fedra Hajizadeh M.D.

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Correspondence to Fedra Hajizadeh M.D. .

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  1. Noor Eye Hospital, Tehran, Iran

    Fedra Hajizadeh

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Hajizadeh, F. (2018). Hereditary Disease. In: Hajizadeh, F. (eds) Atlas of Ocular Optical Coherence Tomography. Springer, Cham. https://doi.org/10.1007/978-3-319-66757-7_9

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  • DOI: https://doi.org/10.1007/978-3-319-66757-7_9

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