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Retinal Disorders Mimicking Inherited Retinal Diseases

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Inherited Retinal Disease

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Abstract

Various retinal conditions can mimic inherited retinal diseases, especially retinitis pigmentosa (RP). Some are phenocopies of RP, and they can be differentiated from RP based on careful fundus examination and thorough systemic review. Meanwhile, others are pseudo-RP diseases, which are not true genetic diseases but are pan-retinal damage caused by conditions other than heredity. A number of acquired conditions can present with diffuse chorioretinal atrophy which is very difficult to distinguish from advanced RP. Specific medical history and asymmetry of retinal degenerative change are important clues for differential diagnosis, which is critical because it can prevent the burden of genetic and prognostic counseling and some conditions may be treatable.

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Authors and Affiliations

  1. Seoul National University College of Medicine, Jongno-gu, Seoul, Korea

    Un Chul Park

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Correspondence to Un Chul Park .

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  1. Department of Ophthalmology, Seoul National University Hospital, Seoul, Korea (Republic of)

    Hyeong-Gon Yu

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Park, U.C. (2022). Retinal Disorders Mimicking Inherited Retinal Diseases. In: Yu, HG. (eds) Inherited Retinal Disease. Springer, Singapore. https://doi.org/10.1007/978-981-16-7337-5_17

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  • DOI: https://doi.org/10.1007/978-981-16-7337-5_17

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