PROGRESSION OF ABCA4-RELATED RETINOPATHY

TY - JOUR

T1 - PROGRESSION OF ABCA4-RELATED RETINOPATHY

T2 - Prognostic value of demographic, functional, genetic, and imaging parameters

AU - Müller, Philipp L

AU - Pfau, Maximilian

AU - Treis, Tim

AU - Pascual-Camps, Isabel

AU - Birtel, Johannes

AU - Lindner, Moritz

AU - Herrmann, Philipp

AU - Holz, Frank G

PY - 2020/12

Y1 - 2020/12

N2 - PURPOSE: To investigate the prognostic value of demographic, functional, genetic, and imaging parameters on retinal pigment epithelium atrophy progression secondary to ABCA4-related retinopathy.METHODS: Patients with retinal pigment epithelium atrophy secondary to ABCA4-related retinopathy were examined longitudinally with fundus autofluorescence imaging. Lesion area, perimeter, circularity, caliper diameters, and focality of areas with definitely decreased autofluorescence were determined. A model was used to predict the lesion enlargement rate based on baseline variables. Sample size calculations were performed to model the power in a simulated interventional study.RESULTS: Sixty-eight eyes of 37 patients (age range, 14-78 years) with a follow-up time of 10 to 100 months were included. The mean annual progression of retinal pigment epithelium atrophy was 0.89 mm. The number of atrophic areas, the retina-wide functional impairment, and the age-of-onset category constituted significant predictors for future retinal pigment epithelium atrophy growth, explaining 25.7% of the variability. By extension of a simulated study length and/or specific patient preselection based on these baseline characteristics, the required sample size could significantly be reduced.CONCLUSION: Trial design based on specific shape-descriptive factors and patients' baseline characteristics and the adaption of the trial duration may provide potential benefits in required cohort size and absolute number of visits.

AB - PURPOSE: To investigate the prognostic value of demographic, functional, genetic, and imaging parameters on retinal pigment epithelium atrophy progression secondary to ABCA4-related retinopathy.METHODS: Patients with retinal pigment epithelium atrophy secondary to ABCA4-related retinopathy were examined longitudinally with fundus autofluorescence imaging. Lesion area, perimeter, circularity, caliper diameters, and focality of areas with definitely decreased autofluorescence were determined. A model was used to predict the lesion enlargement rate based on baseline variables. Sample size calculations were performed to model the power in a simulated interventional study.RESULTS: Sixty-eight eyes of 37 patients (age range, 14-78 years) with a follow-up time of 10 to 100 months were included. The mean annual progression of retinal pigment epithelium atrophy was 0.89 mm. The number of atrophic areas, the retina-wide functional impairment, and the age-of-onset category constituted significant predictors for future retinal pigment epithelium atrophy growth, explaining 25.7% of the variability. By extension of a simulated study length and/or specific patient preselection based on these baseline characteristics, the required sample size could significantly be reduced.CONCLUSION: Trial design based on specific shape-descriptive factors and patients' baseline characteristics and the adaption of the trial duration may provide potential benefits in required cohort size and absolute number of visits.

KW - ATP-Binding Cassette Transporters/genetics

KW - Adolescent

KW - Adult

KW - Aged

KW - Atrophy

KW - Demography

KW - Disease Progression

KW - Female

KW - Follow-Up Studies

KW - Humans

KW - Male

KW - Middle Aged

KW - Mutation/genetics

KW - Optical Imaging

KW - Prognosis

KW - Retinal Dystrophies/diagnosis

KW - Retinal Pigment Epithelium/pathology

KW - Retrospective Studies

KW - Visual Acuity/physiology

KW - Young Adult

U2 - 10.1097/IAE.0000000000002747

DO - 10.1097/IAE.0000000000002747

M3 - SCORING: Journal article

C2 - 33214501

VL - 40

SP - 2343

EP - 2356

JO - RETINA-J RET VIT DIS

JF - RETINA-J RET VIT DIS

SN - 0275-004X

IS - 12

ER -