Correlation between visual acuity and OCT-measured retinal nerve fiber layer thickness in a family with ADOA and an OPA1 mutation.
OBJECTIVE
To assess the association between retinal nerve fiber layer (RNFL) thickness and visual acuity in a family from Siracusa (Sicily) with autosomal dominant optic atrophy (ADOA) due to a heterozygous c.869G>A OPA1 mutation.


METHODS
Affected family members underwent complete neuro-ophthalmological evaluation, including visual acuity testing, colour vision testing, tonometry, visual field testing, colour fundus photography, pattern visual-evoked potential (PVEP) testing, and pattern electroretinography (PERG). Patients and age-matched control subjects were scanned by spectral-domain optical coherence tomography (SD-OCT) to assess circumpapillary RNFL thickness.


RESULTS
All patients showed the characteristic optic disc pallor and central scotomas in the visual field. PVEP testing and PERG also showed alterations consistent with ADOA. The average circumpapillary RNFL thickness was thinner in ADOA patients than in control subjects (60.87 ± 6.58µm and 108.13 ± 6.53µm, respectively; p = 0.0001). The visual acuity in patients with ADOA correlated significantly with the circumpapillary average RNFL thickness (r = -0.845, p = 0.008).


CONCLUSIONS
OCT-measured peripapillary RNFL thickness is reduced in ADOA patients compared with healthy subjects and correlates significantly with visual acuity in patients with ADOA. The photoreceptor layers are morphologically unaffected.
Eye Clinic, Department of Neurological Sciences and Vision, University of Brescia, Brescia, Italy. andrea@russoandrea.it
Andrea
A
Russo
Luisa
L
Delcassi
Eleonora
E
Marchina
Francesco
F
Semeraro
D000293:Adolescent; D000368:Aged; D003118:Color Perception; D004252:DNA Mutational Analysis; D005074:Evoked Potentials, Visual / Q000502:physiology; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D009412:Nerve Fibers / Q000473:pathology*; D029241:Optic Atrophy, Autosomal Dominant / Q000175:diagnosis* / Q000235:genetics; D009898:Optic Disk / Q000473:pathology*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012165:Retinal Ganglion Cells / Q000473:pathology*; D012607:Scotoma / Q000175:diagnosis; D041623:Tomography, Optical Coherence; D014065:Tonometry, Ocular; D014792:Visual Acuity / Q000502:physiology*; D055815:Young Adult
D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human