Management Guidelines
No clinical practice guidelines for autosomal recessive RPE65-related retinal degeneration have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs of individuals diagnosed with autosomal recessive RPE65-related retinal degeneration, the evaluations included (if not performed as part of the evaluation that led to the diagnosis) are recommended, and their purpose summarized. Note that some evaluations may be indicated only in individuals considering subretinal gene supplementation therapy .
Table 3.
Autosomal Recessive RPE65-Related Retinal Degeneration: Recommended Evaluations Following Initial Diagnosis
Evaluation | Purpose
Ophthalmologic
| BCVA | To determine visual acuity provide baseline for comparison of future assessments
Refractive error
| To prescribe corrective lenses
Slit lamp exam
| To document anterior segment findings such as cataract
Indirect ophthalmoscopy
| To document fundus findings
Kinetic visual perimetry1 (Goldmann perimetry)
| To map out entire visual field provide baseline
Static visual perimetry2
| To determine retinal sensitivity in any given location in visual field to provide baseline
OCT | To assess anatomic structure of retina, which may identify persons more likely to benefit from RPE65 gene replacement therapy
Fundus photography
| To document fundus findings prov...
Source: GeneReviews — "Autosomal Recessive RPE65-Related Retinal Degeneration"
