Inherited Retinal Dystrophies

  • Gregory Stein
  • Tarun Sharma
  • Thiago Cabral
  • Stephen Tsang
  • Wendy Chung


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).


Inherited retinal dystrophies Retinal disorders Retinitis pigmentosa Choroideremia Gyrate atrophy Leber congenital amaurosis Achromatopsia Rod monochromatism Cone dystrophy Stargardt disease Best disease X-linked juvenile retinoschisis 

Suggested Reading

  1. Chapter 3: Retinal physiology and psychophysics, in the basic and clinical science course: section 12. Am Acad Ophthalmol. 2012–2013.Google Scholar
  2. 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.PubMedPubMedCentralGoogle Scholar
  3. Tsui I, Song B, Lin CS, Tsang SH. A practical approach to retinal dystrophies. Retin Physician. 2007;4:18–26.Google Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Gregory Stein
    • 1
  • Tarun Sharma
    • 2
  • Thiago Cabral
    • 3
  • Stephen Tsang
    • 4
  • Wendy Chung
    • 5
  1. 1.Uptown Retina and Vitreous of New YorkNew YorkUSA
  2. 2.Department of Ophthalmology, Edward S. Harkness Eye InstituteColumbia University Vagelos College of Physicians and SurgeonsNew YorkUSA
  3. 3.Department of OphthalmologyUniversity Federal of Sao PauloSao PauloBrazil
  4. 4.Departments of Ophthalmology and Pathology and Cell BiologyHarkness Eye Institute, Columbia University Vagelos College of Physicians and SurgeonsNew YorkUSA
  5. 5.Department of PediatricsColumbia University Irving Medical CenterNew YorkUSA

Personalised recommendations