TY - JOUR
T1 - Longitudinal Changes in Vision and Retinal Morphology in Wolfram Syndrome
AU - O'Bryhim, Bliss E.
AU - Samara, Amjad
AU - Chen, Ling
AU - Hershey, Tamara
AU - Tychsen, Lawrence
AU - Hoekel, James
N1 - Publisher Copyright:
© 2022 Elsevier Inc.
PY - 2022/11
Y1 - 2022/11
N2 - PURPOSE: To report long-term ophthalmic findings in Wolfram syndrome, including rates of visual decline, macular thinning, retinal nerve fiber layer (RNFL) thinning, and outer plexiform layer (OPL) lamination. DESIGN: Single-center, cohort study. METHODS: A total of 38 participants were studied, who underwent a complete ophthalmic examination as well as optical coherence tomography imaging of the macula and nerve on an annual basis. Linear mixed-effects models for longitudinal data were used to examine both fixed and random effects related to visual acuity and optic nerve quadrants of RNFL and macula thickness. RESULTS: Participants completed a mean of 6.44 years of follow-up (range 2-10 years). Visual acuity declined over time in all participants, with a mean slope of 0.059 logMAR/y (95% CI = 0.07-0.05 logMAR/y), although nearly 25% of participants experienced more rapid visual decline. RNFL thickness decreased in superior, inferior, and nasal quadrants (β = −0.5 µm/y, −0.98 µm/y, −0.28 µm/y, respectively). OPL lamination was noted in 3 study participants, 2 of whom had autosomal dominant mutations. CONCLUSIONS: Our study describes the longest and largest natural history study of visual acuity decline and retinal morphometry in Wolfram syndrome to date. Results suggest that there are slower and faster progressing subgroups and that OPL lamination is present in some individuals with this disease.
AB - PURPOSE: To report long-term ophthalmic findings in Wolfram syndrome, including rates of visual decline, macular thinning, retinal nerve fiber layer (RNFL) thinning, and outer plexiform layer (OPL) lamination. DESIGN: Single-center, cohort study. METHODS: A total of 38 participants were studied, who underwent a complete ophthalmic examination as well as optical coherence tomography imaging of the macula and nerve on an annual basis. Linear mixed-effects models for longitudinal data were used to examine both fixed and random effects related to visual acuity and optic nerve quadrants of RNFL and macula thickness. RESULTS: Participants completed a mean of 6.44 years of follow-up (range 2-10 years). Visual acuity declined over time in all participants, with a mean slope of 0.059 logMAR/y (95% CI = 0.07-0.05 logMAR/y), although nearly 25% of participants experienced more rapid visual decline. RNFL thickness decreased in superior, inferior, and nasal quadrants (β = −0.5 µm/y, −0.98 µm/y, −0.28 µm/y, respectively). OPL lamination was noted in 3 study participants, 2 of whom had autosomal dominant mutations. CONCLUSIONS: Our study describes the longest and largest natural history study of visual acuity decline and retinal morphometry in Wolfram syndrome to date. Results suggest that there are slower and faster progressing subgroups and that OPL lamination is present in some individuals with this disease.
UR - http://www.scopus.com/inward/record.url?scp=85135934569&partnerID=8YFLogxK
U2 - 10.1016/j.ajo.2022.07.003
DO - 10.1016/j.ajo.2022.07.003
M3 - Article
C2 - 35850251
AN - SCOPUS:85135934569
SN - 0002-9394
VL - 243
SP - 10
EP - 18
JO - American journal of ophthalmology
JF - American journal of ophthalmology
ER -