Retinal Pigment Epithelium and Outer Retinal Atrophy (RORA) in Retinitis Pigmentosa: Functional, Structural, and Genetic Evaluation.

PURPOSE

To examine whether the extension of retinal pigment epithelium (RPE) and outer retinal atrophy (RORA) and various other morphofunctional parameters correlate with the genetic assessment and severity of retinitis pigmentosa (RP).

METHODS

Thirty-eight patients (76 eyes) with RP were prospectively enrolled and underwent full ophthalmic examination, including visual field testing, full-field electroretinography (ERG), and optical coherence tomography angiography. The severity of the disease was calculated using the RP stage scoring system, and the area of RORA was assessed using the automatically calculated area of sub-RPE illumination. Blood or saliva samples were collected from subjects, and DNA extraction was performed to evaluate genetic mutations and nucleotide and amino acid variations.

RESULTS

There was a statistically significant correlation between the extent of RORA and patient age, best-corrected visual acuity, ellipsoid zone extension, and disease severity in both eyes (each, P < 0.05). In contrast, RORA did not correlate with either the visual field or the ERG amplitude. Cumulative score and grade severity were both significantly correlated with superficial and deep capillary plexus density (both, P < 0.001) in both eyes. Evaluating RORA, we found genes with an overall less severe phenotype, such as EYS, PCDH15, and PRPF31, and those with a worse phenotype, such as RPGR.

CONCLUSIONS

The correlation of RORA with structural, functional, and genetic assessment in RP disease leads us to consider RORA as a potential biomarker for prediction of disease stage. Multicenter studies are needed to confirm our findings.

TRANSLATIONAL RELEVANCE

The morphofunctional and genetic correlations suggest a role for RORA in RP diagnosis and follow-up.