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Daniel C Chung, Jennifer Wellman, Emily Liu, Kathy Reape, Julie Pappas, Okan Elci, Sarah McCague, Katherine High; The Natural History of Disease Progression in Patients With RPE65-Mediated Inherited Retinal Dystrophies. Invest. Ophthalmol. Vis. Sci. 2016;57(12):6588. doi: https://doi.org/.
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© ARVO (1962-2015); The Authors (2016-present)
Mutations in the Retinal Pigmented Epithelium 65 gene (RPE65) result in progressive visual deterioration, leading to blindness. These mutations are associated with an early-onset form of disease, Leber congenital amaurosis type 2, and a later-onset form, retinitis pigmentosa type 20, as well as various forms of Early-Onset Retinal Dystrophy (EORD). This study evaluates the natural history of visual acuity (VA) and kinetic visual field (VF) sensitivity over time, as well as the diverse diagnoses these patients receive.
This was a global, retrospective, descriptive chart review study. Eligibility criteria included confirmatory genetic testing for biallelic RPE65 mutations, ≥2 office/clinic visits, and no other retinal pathology. Retrospective clinical data through anonymized patient records, noting VA, kinetic VF sensitivity and diagnosis at each clinic/office visit were collected. Mixed-effects linear regression models were used to examine the effect of age on VA and kinetic VF sensitivity.
Of 48 eligible subjects, 42 subjects with recorded VAs (age range 2-30 years) were identified, and VAs were converted to a LogMAR. Age and LogMAR scores were positively related, showing deteriorating VA over time. Mixed-effects linear regression model shows a statistically significant effect of age on VA (P<0.0001). VA increased (worsened) by an average of 0.043 (right) and 0.048 (left) LogMAR with a 1-year increase in age. Kinetic VF sensitivity were recorded in 28 of 48 eligible subjects (age range 6-30 years) and deterioration over time was similarly noted. There was a negative relationship between age and VF. When age increased, VF decreased (worsened). There was a statistically significant effect of age on VF (P<0.0001). A 1-year increase in age was accompanied by decreases in visual field of 32.4 (right) and 32.2 (left) degrees, as based on measures in all 24 meridians. Of the 48 subjects, 26 distinct clinical diagnoses were found.
In this cohort of RPE65-mediated inherited retinal dystrophy patients, VA and VF deterioration was quantified over time. The data show that VA and VF do not improve during the natural history in RPE65 deficient inherited retinal dystrophy. Additionally, the use of a genetic diagnosis may prove more accurate and less confusing due to the specific genetic etiology of this disease and heterogeneity of clinical labels found in this study.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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