A Practical Approach to Retinal Dystrophies

Irena Tsui¹, Brian J Song², Chyuan-Sheng Lin³, Stephen H Tsang^{4

5}

Affiliations

¹ Department of Ophthalmology, David Geffen School of Medicine at UCLA, Doheny Eye Institute, UCLA, Arcadia, CA, USA.
² Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.
³ Department of Pathology and Cell Biology, Herbert Irving Comprehensive Cancer Center, Columbia University Medical Center, New York, NY, USA.
⁴ Jonas Children's Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA. sht2@cumc.columbia.edu.
⁵ Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA. sht2@cumc.columbia.edu.

PMID: 30578524
DOI: 10.1007/978-3-319-95046-4_51

Review

A Practical Approach to Retinal Dystrophies

Irena Tsui et al. Adv Exp Med Biol. 2018.

. 2018:1085:245-259.

doi: 10.1007/978-3-319-95046-4_51.

Authors

Irena Tsui¹, Brian J Song², Chyuan-Sheng Lin³, Stephen H Tsang^{4

5}

Affiliations

¹ Department of Ophthalmology, David Geffen School of Medicine at UCLA, Doheny Eye Institute, UCLA, Arcadia, CA, USA.
² Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.
³ Department of Pathology and Cell Biology, Herbert Irving Comprehensive Cancer Center, Columbia University Medical Center, New York, NY, USA.
⁴ Jonas Children's Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA. sht2@cumc.columbia.edu.
⁵ Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA. sht2@cumc.columbia.edu.

PMID: 30578524
DOI: 10.1007/978-3-319-95046-4_51

Abstract

Genomic approaches to developing new diagnostic and therapeutic strategies in retinal dystrophies are among the most advanced applications of genetics (Tsang SH, Gouras P (1996) Molecular physiology and pathology of the retina. In: Duane TD, Tasman W, Jaeger AE (eds) Duane's clinical opthalmology. Lippincott-Raven, Philadelphia). The notion that "nothing can be done" for patients with retinal dystrophies is no longer true. Electrophysiological testing and autofluorescence imaging help to diagnose and predict the patient's course of disease. Better phenotyping can contribute to better-directed, cost-efficient genotyping. Combining fundoscopy, autofluorescent imaging, and electrophysiological testing is essential in approaching patients with retinal dystrophies. Emerging are new gene-based treatments for these devastating conditions.

Keywords: Clinical examination; Imaging; Inherited retinal dystrophy.

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A Practical Approach to Retinal Dystrophies

Affiliations

A Practical Approach to Retinal Dystrophies

Authors

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Abstract

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