Table 4. [Recommended Surveillance for Individuals with RPE65-LCA/EOSRD]. - GeneReviews®

Evaluation	Purpose	Frequency
Ophthal-mologic	Best corrected visual acuity	To assess visual acuity	Yearly
Refractive error	To assess changes in refractive error that would require change to corrective lenses	Yearly
Slit lamp examination	To assess anterior segment changes such as cataract	Yearly
Indirect ophthalmoscopy	To assess fundus findings, which may identify disease progression	Yearly
Kinetic visual perimetry	To assess changes in the entire visual field	Yearly if possible
Static visual perimetry	To assess changes in retinal sensitivity in any given location in the visual field	Yearly
Optical coherence tomography (OCT)	To assess anatomic structure of the retina, which may identify disease progression	Yearly
Fundus photography	To document fundus changes, which may identify disease progression	Yearly if possible
Fundus autofluorescence	To document changes in native autofluorescent pigments to assess health of retina	Yearly if possible
Full-field electroretinogram (ERG)	To assess residual activity of the rods (dark-adapted [scotopic] ERG) & cones (light-adapted [photopic] ERG)	Every 3-5 yrs
Full field stimulus threshold	To quantify residual photoreceptor function	Every 3-5 yrs
Other	Developmental/Educational assessment	To assess developmental/educational needs	Yearly or as needed
Psychiatric/Behavioral	To assess need for psychiatric or behavioral therapy	Yearly or as needed
Family support/Resources	To assess need for additional family resources or other support groups	Yearly or as needed

Evaluation

Purpose

Frequency

Ophthal-mologic

Best corrected visual acuity

To assess visual acuity

Yearly

Refractive error

To assess changes in refractive error that would require change to corrective lenses

Yearly

Slit lamp examination

To assess anterior segment changes such as cataract

Yearly

Indirect ophthalmoscopy

To assess fundus findings, which may identify disease progression

Yearly

Kinetic visual perimetry

To assess changes in the entire visual field

Yearly if possible

Static visual perimetry

To assess changes in retinal sensitivity in any given location in the visual field

Yearly

Optical coherence tomography (OCT)

To assess anatomic structure of the retina, which may identify disease progression

Yearly

Fundus photography

To document fundus changes, which may identify disease progression

Yearly if possible

Fundus autofluorescence

To document changes in native autofluorescent pigments to assess health of retina

Yearly if possible

Full-field electroretinogram (ERG)

To assess residual activity of the rods (dark-adapted [scotopic] ERG) & cones (light-adapted [photopic] ERG)

Every 3-5 yrs

Full field stimulus threshold

To quantify residual photoreceptor function

Every 3-5 yrs

Other

Developmental/Educational assessment

To assess developmental/educational needs

Yearly or as needed

Psychiatric/Behavioral

To assess need for psychiatric or behavioral therapy

Yearly or as needed

Family support/Resources

To assess need for additional family resources or other support groups

Yearly or as needed

From: RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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