Clinical Assessment of Patients with Inherited Retinal Degenerations

Publication Date: November 1, 2022
Last Updated: November 10, 2022

Summary of Recommendations

Clinical Evaluation: Inherited Retinal Degenerative Diseases

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Assessment Initial Visit Follow Up Visit Every 1-2 Years
History
Ocular (including current needs) 1-4a 1-4
Medical (including current medications and history of retinotoxic medication use)
Family history of vision problems
Pedigree
Pedigree 1-4 1-4
Clinical eye examination
Best corrected visual acuity: Early Treatment of Diabetic Retinopathy Study (ETDRS) protocol (or equivalent) 1-4 1-4
Color vision testing (optional)
Slit lamp biomicroscopy
Intraocular pressure
Indirect ophthalmoscopy
Imaging
Color fundus photos* 1-4 1-4
Spectral Domain Optical Coherence Tomography 1-4
Fundus autofluorescence: Short wavelength with reduced illumination when possible 1-4 1-4
Infrared Reflectance or autofluorescence (when available) 1,3, 4 1, 3, 4
Visual fields
Kinetic 1-4 1-4
Static 1-3b 1-3b
Microperimetry 1-4b 1-4b
Electroretinography
Full-field ERGc (when appropriate) 1-4 1-3
Multifocal ERGd (when appropriate) 2, 4 2, 4
FST (useful with unsteady fixation or when ERG is non recordable)
Genetic Diagnostic Testing
Single gene vs gene panel testing 1-4 1-4 (if earlier visits did not provide conclusive results)
Exome Sequencing
Genome sequencing (usually research)
Legend:
a) Numbers refer to clinical phenotypes:

1. Rod-cone degenerations, such as retinitis pigmentosa. Those with stationary rod-cone dysfunction, such as congenital stationary night blindness, should be evaluated similarly at baseline, then followed with clinical eye examinations only.
2. Cone-rod degenerations. Conditions affecting cones that are traditionally considered stationary, such as achromatopsia, should also be evaluated similarly at baseline, then followed with eye examination annually as some cases may progress slowly, warranting ongoing follow up.
3. Chorioretinal degenerations, such as CHM-associated retinal degeneration (choroideremia) and gyrate atrophy.
4. Inherited dystrophies that involve the macula, such as cone degeneration, X-linked retinoschisis, ABCA4-associated macular degeneration (Stargardt disease), and PRPH2-associated macular degeneration (pattern dystrophy).

b) Static perimetry and microperimetry are of uncertain value for patients with advanced disease as they may have unstable, eccentric fixation that makes interpretation difficult.

c) Full-field ERG is not necessary in Best disease, North Carolina macular dystrophy or in cases of pattern dystrophy limited to the macula. However, if electro-oculogram testing is not available, full-field ERG should be normal in Best disease. A full-field ERG is appropriate for a patient with macular changes for whom one is considering cone or cone-rod dystrophy in the differential diagnosis. Also, a non-detectable ERG is not recommended to be repeated.

d) Multifocal ERG is of uncertain value in patients when central acuity is significantly reduced or fixation is unstable, as mentioned above.

*Fundus photos should be used sparingly in Stargardt disease and other maculopathies due to potential light toxicity, thus consideration should be given to limiting their use.

Overview

Title

Clinical Assessment of Patients with Inherited Retinal Degenerations

Authoring Organization