March 2012
Volume 53, Issue 14
Free
ARVO Annual Meeting Abstract  |   March 2012
Functional And Structural Correlation In Pure Autosomal Dominant Optic Atrophy (DOA) With Opa1 Mutations
Author Affiliations & Notes
  • Maria Lucia Cascavilla
    Department of Ophthalmology University Scientific Institute San Raffaele, Milan, Italy
  • Stefania Bianchi Marzoli
    Department of Ophthalmology University Scientific Institute San Raffaele, Milan, Italy
  • Gabriella Cammarata
    Department of Ophthalmology University Scientific Institute San Raffaele, Milan, Italy
  • Luisa Pierro
    Department of Ophthalmology University Scientific Institute San Raffaele, Milan, Italy
  • Francesco Bandello
    Department of Ophthalmology University Scientific Institute San Raffaele, Milan, Italy
  • Footnotes
    Commercial Relationships  Maria Lucia Cascavilla, None; Stefania Bianchi Marzoli, None; Gabriella Cammarata, None; Luisa Pierro, None; Francesco Bandello, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science March 2012, Vol.53, 3927. doi:
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      Maria Lucia Cascavilla, Stefania Bianchi Marzoli, Gabriella Cammarata, Luisa Pierro, Francesco Bandello; Functional And Structural Correlation In Pure Autosomal Dominant Optic Atrophy (DOA) With Opa1 Mutations. Invest. Ophthalmol. Vis. Sci. 2012;53(14):3927.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : To evaluate and compare functional and structural parameters in DOA.

Methods: : 20 patients with genetically confirmed OPA1 mutation underwent a complete neuro-ophthalmologic examination and psycophysical tests with measurements of best corrected Snellen visual acuity (BCVA), pattern VEP amplitude (VEP-A) and implicit time (VEP-IT) , PERG amplitude (PERG-A) and mfERG amplitude (mfERG-A). Peripapillary RNFLT and macular measurements were obtained with TD OCT (Stratus) and SD OCT (RTVue-100) . All data were compared to the normative database.

Results: : Mean BCVA was 20/70. Normal VEP- A was found in 63% of cases at 60’ and 97% at 15’; normal VEP-IT was found in 95% of cases at 60’ and 68% at 15’. Normal PERG-A was detected in all cases. Reduced mfERG-A was measured in 24% at 5°, 16% at 10°, 11% at 15°, 6% at 20°. Average and temporal RNFLT were reduced in 96% and 90% of cases using TD OCT and in 97% and 100% with SD OCT . Central Macular Thickness (CMT) and Total Macular Volume (TMV) were normal in all cases with either TD and SD OCT. Ganglion cell complex thickness (GCCT) mesasured with SD OCT was reduced in 84%. VEP-A was found statistically correlated only with BCVA but not with RNFLT measurements. Central 5° and 10° mfERG-A was statistically significantly correlated with BCVA and with average RNFLT using SD OCT but not with TD OCT. Both TD and SD OCT average and temporal RNFLT were correlated with BCVA. Significant correlations were found between average RNFLT and CMT obtained with both OCT instruments. Macular TD and SD OCT data did not correlate with VEP, PERG and mfERG.

Conclusions: : Normal VEP and reduced mfERG amplitude were found in DOA. VEP findings could be explained with relatively sparing of ganglion cell-melanopsin complex in comparison to regular retinal ganglion cells that it has been recently suggested in mitochondrial optic neuropathies. Since normal macular OCT measurements, central mfERG response could be related to an impaired contribute from the inner retina rather than to a of functional cone defect in DOA.

Keywords: optic nerve • electrophysiology: clinical • imaging methods (CT, FA, ICG, MRI, OCT, RTA, SLO, ultrasound) 
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