Axonal loss occurs early in dominant optic atrophy

Abstract

. Purpose: This study set out to investigate retinal nerve fibre layer (RNFL) thickness and best corrected visual acuity (BCVA) in relation to age in healthy subjects and patients with OPA1 autosomal dominant optic atrophy (DOA). Methods: We carried out a cross‐sectional investigation of RNFL thickness and ganglion cell layer density in 30 healthy subjects and 10 patients with OPA1 DOA using optical coherence tomography (OCT). We then performed a regression analysis of RNFL thickness and BCVA versus age. Results: Both healthy subjects and DOA patients demonstrated a gradual reduction in RNFL thickness with age; the relationship was best described statistically by a model that assumed a constant offset between the two groups. Best corrected VA decreased significantly with age in DOA patients, in whom BCVA was correlated with peripapillary RNFL thickness in the inferior and superior peripapillary quadrants and with total macular thickness at eccentricities of 500–3000 μm. The observations were best described by a constant offset of 41.9 μm separating the two groups and an annual decrease in RNFL thickness of 0.48 μm (p < 0.0001). In patients with DOA, increasing age was associated with decreasing BCVA (p = 0.046). Conclusions: This cross‐sectional study found evidence of comparable age‐related decreases in RNFL thickness in healthy subjects and in DOA patients, where the deficit in DOA patients is best described using a model that assumes the deficit between the groups does not vary with age. The gradual reduction of BCVA with age may be a consequence of a relative deficit in RNFL thickness that is established before the second decade of life.

Drug-Related Mitochondrial Optic Neuropathies

“…The red Amsler grid is a particularly useful screening test. OCT is a useful ancillary test in the subacute and chronic stages by measuring the RNFL thickness and confirming thinning involving the PMB beginning in the inferotemporal sector (11)(12)(13)(14). In the later stages, OCT demonstrates thinning of RNFL thickness in all quadrants (9).…”

SDOCT Thickness Measurements of Various Retinal Layers in Patients with Autosomal Dominant Optic Atrophy due toOPA1Mutations

“…Milea et al  [16] reported a gradual reduction in peripapillary RNFL thickness with age in 10 ADOA patients with OPA1 mutations as well as in 30 healthy subjects using Stratus OCT. In ADOA patients, VA decreased significantly with age.…”

Toxic optic neuropathies

“…Early thinning starts in the inferotemporal sector of the PMB [21][22][23][24], with thinning of retina nerve fiber layer (RNFL) thickness in all quadrants in later stages [25].…”