Inherited Retinal Diseases (IRD)

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Posted on Thursday January 21, 2021

Selected peer reviewed published research on Inherited Retinal Diseases:

Inherited Retinal Diseases (IRDs) are caused by different gene mutations that can cause vision loss due to dysfunction primarily of the photoreceptors. Electrophysiology (ffERG, mfERG, PERG, PhNR, EOG, EER) responses are objective measures of retinal function and assist in accurately differentiating between IRDs as well as judging the severity of the specific IRD. In addition, ERG and the psychophysical tests (DA and FST) assist with gene therapy trials that may improve outcomes for people born with an IRD.


Prokofyeva E Troeger E, Zrenner E. The special electrophysiological signs of inherited retinal dystrophies. The Open Ophthalmology Journal, 2012;6: 86-97.

Robson AG, Nilsson J, Li S, et al. ISCEV guide to visual electrodiagnostic procedures. Springer 2018;136:1-26.
Roman AJ, Cideciyan AV, Aleman TS, Jacobson SG. Full-field stimulus testing (FST) to quantify visual perception in severely blind candidates for clinical trials. Physiol. Meas. 28 (2007) N51–N56.

Sharon D, Ben-Yosef T, Goldenberg-Cohen N, et al. A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC). Human Mutation 2020;41:140-149.


Arden GB, Barrade A. analysis of the electro-oculograms of a series of normal subject. Role of the lens in the development of the standing potential. Brit. J. Ophthal 1962; 46:468-482.

Boon CJF, van den Born LI, Visser L, et al. Autosomal recessive bestrophinopathy. Ophthalmology 2013;120:809–820.

Congenital Achromatopsia

Genead MA, Fishman GA, Rha J, et al. Photoreceptor structure and function in patients with congenital achromatopsia. Invest Ophthal Vis Sci, September 2011, Vol. 52, No. 10:7298-7308.

Congenital Stationary Night Blindness

Sergouniotis PI, Robson AG, Li Z, et al. A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene. Acta Ophthalmol. 2012: 90: e192–e197.

Leber Congenital Amaurosis

Chao DL, Burr A, Pennesi M. RPE65-related Leber congenital amaurosis / early-onset severe retinal dystrophy. 2019 Nov 14. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.

Ciulla TA, Hussai RM, Berrocal AM, Nagiel A. Voretigene neparvovec-rzyl for treatment of RPE65-mediated inherited retinal diseases: a model for ocular gene therapy development. Expert Opinion on Biological Therapy
 DOI: 10.1080/14712598.2020.1740676.

Collison FT, Park JC, Fishman GA, McAnany JJ, Stone EM. Full-field pupillary light responses, luminance thresholds, and light discomfort thresholds in CEP290 Leber congenital amaurosis patients. Invest Ophthalmol Vis Sci. 2015;56:7130–7136.

Maguire AM, Russell S, Wellman JA, et al. Efficacy, safety, and durability of voretigene neparvovec-rzyl in RPE65 mutationeassociated inherited retinal dystrophy. Ophthalmology 2019;126:1273- 1285

Leber’s Hereditary Optic Neuropathy

Karanjia R, Berezovsky A, Sacai PY, et al. The photopic negative response: an objective measure of retinal ganglion cell function in patients with Leber’s hereditary optic neuropathy. Invest Ophthalmol Vis Sci. 2017;58:BIO300–BIO306.

Retinitis Pigmentosa

Arden GB, Carter RM, Hogg CR, et al. Rod and cone activity in patients with dominantly inherited retinitis pigmentosa: comparisons between psychophysical and electroretinographic measurements. Brit J Ophthal 1983 (67) 405-418.

Berson EL. Long-term visual prognoses in patients with retinitis pigmentosa the Ludwig von Sallmann lecture. Exp Eye Res. 2007 July; 85(1):7–14.

Stargardt Disease

Fujinami K, Lois N, Davidson AE, Mackay DS, et al. A longitudinal study of Stargardt disease: clinical and electrophysiological assessment, progression, and genotype correlations. Am J Ophthalmol 2013; 155:1075-1088.

Sears AE, Bernstein PS, Cideciyan AV, Hoyng C, et al. Towards Treatment of Stargardt disease: workshop organized and sponsored by the Foundation Fighting Blindness. Trans Vis Sci Tech 2017; 6(5):6-17.

Usher Syndrome

Stingl, K., Kurtenbach, A., Hahn, G. et al. Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study. Doc Ophthalmol 2019; 139:151–160.

X-linked Retinoschisis

Collison FT, Fishman GA. Structural and functional monitoring of extramacular cystoid spaces in a case of X-linked retinoschisis treated with acetazolamide. Retinal Cases & Brief Reports 2016; 0:1–4.

McAnany JJ, Park JC, Fishman GA, Collison FT. Full-field electroretinography, pupillometry, and luminance thresholds in X-linked retinoschisis. Invest Ophthalmol Vis Sci 2020;61(6):53. 1-9.