Table 2.

Eligibility for Gene Augmentation Therapy with Luxturna.

Requirement/Factor	Recommendations
Biallelic disease-causing RPE65 mutations	genetic testing of proband and parents/family members to confirm segregation of the RPE65 variants
	consider screening for involvement of additional molecular causes particularly in consanguineous families and the most severe patients
>1 year of age	consider postponing inclusion to patients older than 2 years of age, unless there is evidence for severe vision loss (poor fixation, wandering nystagmus)
No surgical contraindications	perform comprehensive examination
Detectable photoreceptors	topographic mapping of the central and near midperipheral retina with OCT with segmentation of the OCT cross-sections
	may be substituted by line profiles through main meridians
	best outcome should be for patients with ≤30% ONL loss
	topography of photoreceptor preservation dictates surgical plan and positioning of retinotomies and subretinal blebs
Detectable RPE	determined by inspection of color fundus photography, near infrared reflectance, or fundus autofluorescence imaging
	detectable RPE should co-localize with the regions of detectable photoreceptors
Measurable vision	measurable classic photoreceptor function by FST and/or perimetry, complemented, if possible by ERG and/or pupillometry
	ideally patients should be tested with perimetry and letter visual acuity quantified (Teller acuity in younger children)
	perimetry may be performed using large Goldmann V targets; dark-adapted perimetry will increase dynamic range
	poorer central vision requires consideration of mutations in other IRD genes as well as neuro-ophthalmic causes of vision loss
	determine whether there is structural-functional dissociation as evaluated with OCT and perimetry/FSTs
Foveal health	avoid extension of the blebs to the foveal center if there is concern for early foveal/parafoveal outer segment shortening and photoreceptor loss

ONL, outer nuclear layer; OCT, optical coherence tomography, ERG, electroretinogram; IRD, inherited retinal degeneration.