Retinal dysfunction characterizes subtypes of dominant optic atrophy

Maria Lucia Cascavilla; V Parisi; Giacinto Triolo; L Ziccardi; Enrico Borrelli; A Di Renzo; Nicole Balducci; C Lamperti; S Bianchi Marzoli; Fatima Darvizeh; AA Sadun; V Carelli; F Bandello; Piero Barboni

doi:10.1111/aos.13557

Retinal dysfunction characterizes subtypes of dominant optic atrophy

Maria Lucia Cascavilla, V Parisi, Giacinto Triolo, L Ziccardi, Enrico Borrelli, A Di Renzo, Nicole Balducci, C Lamperti, S Bianchi Marzoli, Fatima Darvizeh, AA Sadun, V Carelli, F Bandello, Piero Barboni

IRCCS Ospedale San Raffaele

Research output: Contribution to journal › Article

Abstract

Purpose: To assess preganglionic retinal function usin g multifocal electroretinogram (mfERG) in patients affected by dominant optic atrophy (DOA) stratified by OPA1 gene mutation. Methods: Multifocal electroretinogram (mfERG) was recorded in 18 DOA patients (DOA group, 35 eyes) and 25 age-matched healthy subjects (control group, 25 eyes). Patients were stratified in two groups based on gene mutation: missense mutation (DOA-M group, 11 eyes) and mutation causing haploinsufficiency (DOA-H group, 24 eyes). The mfERG N1-P1 response amplitude density (RAD) has been evaluated in five annular retinal areas with different eccentricity from the fovea (ring 1: 0-5 degrees, R1; ring 2: 5-10 degrees, R2; ring 3: 10-15 degrees, R3; ring 4: 15-20 degrees, R4; and ring 5: 20-25 degrees, R5) and in eight sectors on the basis of the retinal topography: temporal-superior (TS), temporal-inferior (TI), nasal-superior (NS) and nasal-inferior (NI), temporal (T), superior (S), nasal (N) and inferior (I). Results: Compared to controls, DOA group revealed a significant reduction in N1-P1 RADs values in R1-R4 rings and in TI, NS and N sectors [analysis of variance (ANOVA), p < 0.01). DOA-M group showed a significant reduction in N1-P1 RADs values in R1-R5 rings and in TI, NS, NI, T, N and I sectors (p < 0.01). Dominant optic atrophy-H (DOA-H) group displayed only a significant (p < 0.01) reduction in N1-P1 RADs values, exclusively in R1 and in the NS sector. Conclusion: Preganglionic retinal impairment occurs in DOA with a clear genotype to retinal dysfunction association. Missense mutations are characterized by a far more severe functional impairment. © 2017 Acta Ophthalmologica Scandinavica Foundation

Original language	English
Pages (from-to)	e156-e163
Number of pages	8
Journal	Acta Ophthalmologica
Volume	96
Issue number	2
DOIs	https://doi.org/10.1111/aos.13557
Publication status	Published - 2018

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Cascavilla, M. L., Parisi, V., Triolo, G., Ziccardi, L., Borrelli, E., Di Renzo, A., Balducci, N., Lamperti, C., Bianchi Marzoli, S., Darvizeh, F., Sadun, AA., Carelli, V., Bandello, F., & Barboni, P. (2018). Retinal dysfunction characterizes subtypes of dominant optic atrophy. Acta Ophthalmologica, 96(2), e156-e163. https://doi.org/10.1111/aos.13557

Retinal dysfunction characterizes subtypes of dominant optic atrophy. / Cascavilla, Maria Lucia; Parisi, V; Triolo, Giacinto; Ziccardi, L; Borrelli, Enrico; Di Renzo, A; Balducci, Nicole; Lamperti, C; Bianchi Marzoli, S; Darvizeh, Fatima; Sadun, AA; Carelli, V; Bandello, F; Barboni, Piero.

In: Acta Ophthalmologica, Vol. 96, No. 2, 2018, p. e156-e163.

Research output: Contribution to journal › Article

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abstract = "Purpose: To assess preganglionic retinal function usin g multifocal electroretinogram (mfERG) in patients affected by dominant optic atrophy (DOA) stratified by OPA1 gene mutation. Methods: Multifocal electroretinogram (mfERG) was recorded in 18 DOA patients (DOA group, 35 eyes) and 25 age-matched healthy subjects (control group, 25 eyes). Patients were stratified in two groups based on gene mutation: missense mutation (DOA-M group, 11 eyes) and mutation causing haploinsufficiency (DOA-H group, 24 eyes). The mfERG N1-P1 response amplitude density (RAD) has been evaluated in five annular retinal areas with different eccentricity from the fovea (ring 1: 0-5 degrees, R1; ring 2: 5-10 degrees, R2; ring 3: 10-15 degrees, R3; ring 4: 15-20 degrees, R4; and ring 5: 20-25 degrees, R5) and in eight sectors on the basis of the retinal topography: temporal-superior (TS), temporal-inferior (TI), nasal-superior (NS) and nasal-inferior (NI), temporal (T), superior (S), nasal (N) and inferior (I). Results: Compared to controls, DOA group revealed a significant reduction in N1-P1 RADs values in R1-R4 rings and in TI, NS and N sectors [analysis of variance (ANOVA), p < 0.01). DOA-M group showed a significant reduction in N1-P1 RADs values in R1-R5 rings and in TI, NS, NI, T, N and I sectors (p < 0.01). Dominant optic atrophy-H (DOA-H) group displayed only a significant (p < 0.01) reduction in N1-P1 RADs values, exclusively in R1 and in the NS sector. Conclusion: Preganglionic retinal impairment occurs in DOA with a clear genotype to retinal dysfunction association. Missense mutations are characterized by a far more severe functional impairment. {\textcopyright} 2017 Acta Ophthalmologica Scandinavica Foundation",

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AU - Cascavilla, Maria Lucia

AU - Parisi, V

AU - Triolo, Giacinto

AU - Ziccardi, L

AU - Borrelli, Enrico

AU - Di Renzo, A

AU - Balducci, Nicole

AU - Lamperti, C

AU - Bianchi Marzoli, S

AU - Darvizeh, Fatima

AU - Sadun, AA

AU - Carelli, V

AU - Bandello, F

AU - Barboni, Piero

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N2 - Purpose: To assess preganglionic retinal function usin g multifocal electroretinogram (mfERG) in patients affected by dominant optic atrophy (DOA) stratified by OPA1 gene mutation. Methods: Multifocal electroretinogram (mfERG) was recorded in 18 DOA patients (DOA group, 35 eyes) and 25 age-matched healthy subjects (control group, 25 eyes). Patients were stratified in two groups based on gene mutation: missense mutation (DOA-M group, 11 eyes) and mutation causing haploinsufficiency (DOA-H group, 24 eyes). The mfERG N1-P1 response amplitude density (RAD) has been evaluated in five annular retinal areas with different eccentricity from the fovea (ring 1: 0-5 degrees, R1; ring 2: 5-10 degrees, R2; ring 3: 10-15 degrees, R3; ring 4: 15-20 degrees, R4; and ring 5: 20-25 degrees, R5) and in eight sectors on the basis of the retinal topography: temporal-superior (TS), temporal-inferior (TI), nasal-superior (NS) and nasal-inferior (NI), temporal (T), superior (S), nasal (N) and inferior (I). Results: Compared to controls, DOA group revealed a significant reduction in N1-P1 RADs values in R1-R4 rings and in TI, NS and N sectors [analysis of variance (ANOVA), p < 0.01). DOA-M group showed a significant reduction in N1-P1 RADs values in R1-R5 rings and in TI, NS, NI, T, N and I sectors (p < 0.01). Dominant optic atrophy-H (DOA-H) group displayed only a significant (p < 0.01) reduction in N1-P1 RADs values, exclusively in R1 and in the NS sector. Conclusion: Preganglionic retinal impairment occurs in DOA with a clear genotype to retinal dysfunction association. Missense mutations are characterized by a far more severe functional impairment. © 2017 Acta Ophthalmologica Scandinavica Foundation

AB - Purpose: To assess preganglionic retinal function usin g multifocal electroretinogram (mfERG) in patients affected by dominant optic atrophy (DOA) stratified by OPA1 gene mutation. Methods: Multifocal electroretinogram (mfERG) was recorded in 18 DOA patients (DOA group, 35 eyes) and 25 age-matched healthy subjects (control group, 25 eyes). Patients were stratified in two groups based on gene mutation: missense mutation (DOA-M group, 11 eyes) and mutation causing haploinsufficiency (DOA-H group, 24 eyes). The mfERG N1-P1 response amplitude density (RAD) has been evaluated in five annular retinal areas with different eccentricity from the fovea (ring 1: 0-5 degrees, R1; ring 2: 5-10 degrees, R2; ring 3: 10-15 degrees, R3; ring 4: 15-20 degrees, R4; and ring 5: 20-25 degrees, R5) and in eight sectors on the basis of the retinal topography: temporal-superior (TS), temporal-inferior (TI), nasal-superior (NS) and nasal-inferior (NI), temporal (T), superior (S), nasal (N) and inferior (I). Results: Compared to controls, DOA group revealed a significant reduction in N1-P1 RADs values in R1-R4 rings and in TI, NS and N sectors [analysis of variance (ANOVA), p < 0.01). DOA-M group showed a significant reduction in N1-P1 RADs values in R1-R5 rings and in TI, NS, NI, T, N and I sectors (p < 0.01). Dominant optic atrophy-H (DOA-H) group displayed only a significant (p < 0.01) reduction in N1-P1 RADs values, exclusively in R1 and in the NS sector. Conclusion: Preganglionic retinal impairment occurs in DOA with a clear genotype to retinal dysfunction association. Missense mutations are characterized by a far more severe functional impairment. © 2017 Acta Ophthalmologica Scandinavica Foundation

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DO - 10.1111/aos.13557

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