Correlation Between Fundus Autofluorescence Pattern and Retinal Function on Microperimetry in Choroideremia

TY - JOUR

T1 - Correlation Between Fundus Autofluorescence Pattern and Retinal Function on Microperimetry in Choroideremia

AU - Poli, Federica E

AU - Yusuf, Imran H

AU - Jolly, Jasleen K

AU - Taylor, Laura J

AU - Adeyoju, Daniel

AU - Josan, Amandeep S

AU - Birtel, Johannes

AU - Charbel Issa, Peter

AU - Cehajic-Kapetanovic, Jasmina

AU - Da Cruz, Lyndon

AU - MacLaren, Robert E

PY - 2023/9/1

Y1 - 2023/9/1

N2 - PURPOSE: In patients with choroideremia, it is not known how smooth and mottled patterns on short-wavelength fundus autofluorescence (AF) imaging relate to retinal function.METHODS: A retrospective case-note review was undertaken on 190 patients with choroideremia at two specialist centers for retinal genetics. Twenty patients with both smooth and mottled zones on short-wavelength AF imaging and concurrent mesopic microperimetry assessments were included. Mean retinal sensitivities within the smooth and mottled zones were compared between choroideremia patients, and identical points on mesopic microperimetry collected from 12 age-matched controls. Longitudinal analyses were undertaken at 2 and 5 years in a subset of patients.RESULTS: In patients with choroideremia, mean retinal sensitivities at baseline were significantly greater in the smooth zone (26.1 ± 2.0 dB) versus the mottled zone (20.5 ± 4.2 dB) (P < 0.0001). Mean retinal sensitivities at baseline were similar in the smooth zone between choroideremia patients and controls (P = 0.054) but significantly impaired in the mottled zone in choroideremia compared to controls (P < 0.0001). The rate of decline in total sensitivity over 5 years was not significant in either the smooth or mottled zone in a small subset of choroideremia patients (n = 7; P = 0.344).CONCLUSIONS: In choroideremia, retinal sensitivity as determined by microperimetry correlates with patterns on AF imaging: retinal function in the smooth zone, where the retinal pigment epithelium is anatomically preserved, is similar to controls, but retinal sensitivity in the mottled zone is impaired.TRANSLATIONAL RELEVANCE: Patterns on AF imaging may represent a novel, objective outcome measure for clinical trials in choroideremia as a surrogate for retinal function.

AB - PURPOSE: In patients with choroideremia, it is not known how smooth and mottled patterns on short-wavelength fundus autofluorescence (AF) imaging relate to retinal function.METHODS: A retrospective case-note review was undertaken on 190 patients with choroideremia at two specialist centers for retinal genetics. Twenty patients with both smooth and mottled zones on short-wavelength AF imaging and concurrent mesopic microperimetry assessments were included. Mean retinal sensitivities within the smooth and mottled zones were compared between choroideremia patients, and identical points on mesopic microperimetry collected from 12 age-matched controls. Longitudinal analyses were undertaken at 2 and 5 years in a subset of patients.RESULTS: In patients with choroideremia, mean retinal sensitivities at baseline were significantly greater in the smooth zone (26.1 ± 2.0 dB) versus the mottled zone (20.5 ± 4.2 dB) (P < 0.0001). Mean retinal sensitivities at baseline were similar in the smooth zone between choroideremia patients and controls (P = 0.054) but significantly impaired in the mottled zone in choroideremia compared to controls (P < 0.0001). The rate of decline in total sensitivity over 5 years was not significant in either the smooth or mottled zone in a small subset of choroideremia patients (n = 7; P = 0.344).CONCLUSIONS: In choroideremia, retinal sensitivity as determined by microperimetry correlates with patterns on AF imaging: retinal function in the smooth zone, where the retinal pigment epithelium is anatomically preserved, is similar to controls, but retinal sensitivity in the mottled zone is impaired.TRANSLATIONAL RELEVANCE: Patterns on AF imaging may represent a novel, objective outcome measure for clinical trials in choroideremia as a surrogate for retinal function.

KW - Humans

KW - Choroideremia/genetics

KW - Visual Field Tests

KW - Retrospective Studies

KW - Tomography, Optical Coherence/methods

KW - Visual Acuity

U2 - 10.1167/tvst.12.9.24

DO - 10.1167/tvst.12.9.24

M3 - SCORING: Journal article

C2 - 37773503

VL - 12

SP - 24

JO - TRANSL VIS SCI TECHN

JF - TRANSL VIS SCI TECHN

SN - 2164-2591

IS - 9

ER -