Summary of Recommendations

Document Overview

Design and created by Guideline Central in participation with the American Academy of Ophthalmology.

Clinical Assessment of Patients with Inherited Retinal Degenerations

American Academy of Ophthalmology

Publication Date: Nov 1, 2022

Page Last Updated: May 5, 2026

Clinical Evaluation: Inherited Retinal Degenerative Diseases

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)	2, 4	2, 4
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.

Document Overview

Document Title: Clinical Assessment of Patients with Inherited Retinal Degenerations

Authoring Society: American Academy of Ophthalmology

Document Publication Date: Nov 1, 2022

Page Last Reviewed/Updated: May 5, 2026

Document Type: Consensus Statement

Country of Publication: United States

Full Text Freely Available: Yes

Full Text Guideline: www.aao.org/clinical-statement/guidelines-on-clinical-assessment-of-patients-with

Supplemental Implementation Resources

Video

Document Scope, Criteria, and Use Cases

Document Objectives: Patients with inherited retinal degenerations will benefit from evolving knowledge that may influence their outcome. Special attention to aspects of the history and ophthalmic examination, tests of retinal structure and function, and genetic testing all help to determine an accurate diagnosis. Clinical and genetic testing of patients with IRDs go hand in hand, and one should not be interpreted without the other to ensure accuracy. This Clinical Statement aims to guide Academy members and care providers to optimize evaluations at baseline and during ongoing care of patients with IRDs.
This Academy Clinical Statement provides recommendations and clinical genetic assessments of patients with inherited retinal degenerations (IRDs). Various testing procedures and the timing at which they are recommended are described for patients within 4 broad classes of IRD (rod-cone degenerations, cone-rod degenerations, chorioretinal degenerations and inherited macular dystrophies). Pediatric patients not infrequently require modified testing regimens or sedation for accurate assessment. Genetic testing and genetic counseling are essential components of the management of patients with IRDs as genetic testing may confirm the diagnosis, provide information to optimize management of the patient and family members, and potentially confirm eligibility to participate in clinical trials. For example, genetic testing is required to determine eligibility of patients for approved gene therapies such as voretigene neparvovec-rzyl for RPE65-related IRD. This document is intended to provide guidelines for the management of patients with IRDs and provides information to support and educate patients with IRD. As always, final decisions are the responsibility of the individual treating physicians and are based on the needs of individual patients.

Scope: Assessment and Screening, Counseling, Diagnosis

Diseases/Conditions (MeSH)

D012162 - Retinal Degeneration

Keywords: Inherited retinal degenerations

Inclusion Criteria: Male, Female, Adolescent, Adult, Child, Infant, Older Adult

Health Care Settings: Ambulatory

Intended Users: Genetics, Nurse, Nurse Practitioner, Optometrist, Physician, Physician Assistant

Recommendation Development Processes & Methodology

Number of Source Documents: 22

Includes peer/external review process?: Yes

Includes public comment process?: No

Methodologist involvement?: Yes

Patient involvement?: No

Includes multi-disciplinary group?: Yes

Includes systematic review?: Yes

Grades quality of strength of evidence?: No

Grades quality of strength of recommendation?: No

Includes benefits/harms analysis with recommendations?: No

Clinical Assessment of Patients with Inherited Retinal Degenerations

Summary of Recommendations

Clinical Evaluation: Inherited Retinal Degenerative Diseases

Examinations for Patients with Inherited Retinal Degenerations

What should be done

Imaging

Visual field testing

Electrophysiology

Document Overview

Supplemental Implementation Resources

Document Scope, Criteria, and Use Cases

Recommendation Development Processes & Methodology