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Inherited Retinal Dystrophies

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The Columbia Guide to Basic Elements of Eye Care

Abstract

Evaluation begins with a careful history of systemic and visual symptoms. Important parts of the history include age of onset, laterality, nyctalopia (night blindness), hemeralopia (day blindness), and visual distortion. A family history is critical and can help narrow the differential diagnosis and later guide genetic testing. Examination includes visual acuity and field testing, as well as a detailed fundus examination. The evaluation is often supplemented by imaging that includes color fundus photography, spectral domain ocular coherence tomography (OCT), blue autofluorescence (BAF), and near-infrared autofluorescence (NrAF).

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Suggested Reading

  • Chapter 3: Retinal physiology and psychophysics, in the basic and clinical science course: section 12. Am Acad Ophthalmol. 2012–2013.

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  • Lin MK, Tsai YT, Tsang SH. Emerging treatments for retinitis pigmentosa: genes and stem cells, as well as new electronic and medical therapies, are gaining ground. Retin Physician. 2015;12:52–70.

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  • Tsui I, Song B, Lin CS, Tsang SH. A practical approach to retinal dystrophies. Retin Physician. 2007;4:18–26.

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Stein, G., Sharma, T., Cabral, T., Tsang, S., Chung, W. (2019). Inherited Retinal Dystrophies. In: Casper, D., Cioffi, G. (eds) The Columbia Guide to Basic Elements of Eye Care. Springer, Cham. https://doi.org/10.1007/978-3-030-10886-1_26

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  • DOI: https://doi.org/10.1007/978-3-030-10886-1_26

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-10885-4

  • Online ISBN: 978-3-030-10886-1

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