PMID- 22779427
OWN - NLM
STAT- MEDLINE
DCOM- 20130821
LR  - 20130409
IS  - 1744-5094 (Electronic)
IS  - 1381-6810 (Linking)
VI  - 34
IP  - 1-2
DP  - 2013 Mar-Jun
TI  - Correlation between visual acuity and OCT-measured retinal nerve fiber layer 
      thickness in a family with ADOA and an OPA1 mutation.
PG  - 69-74
LID - 10.3109/13816810.2012.702259 [doi]
AB  - PURPOSE: 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 +/- 6.58microm and 108.13 +/- 6.53microm, 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.
FAU - Russo, Andrea
AU  - Russo A
AD  - Eye Clinic, Department of Neurological Sciences and Vision, University of 
      Brescia, Brescia, Italy. andrea@russoandrea.it
FAU - Delcassi, Luisa
AU  - Delcassi L
FAU - Marchina, Eleonora
AU  - Marchina E
FAU - Semeraro, Francesco
AU  - Semeraro F
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20120711
PL  - England
TA  - Ophthalmic Genet
JT  - Ophthalmic genetics
JID - 9436057
RN  - EC 3.6.1.- (GTP Phosphohydrolases)
RN  - EC 3.6.1.- (OPA1 protein, human)
SB  - IM
MH  - Adolescent
MH  - Aged
MH  - Color Perception
MH  - DNA Mutational Analysis
MH  - Evoked Potentials, Visual/physiology
MH  - Female
MH  - GTP Phosphohydrolases/*genetics
MH  - Humans
MH  - Middle Aged
MH  - *Mutation
MH  - Nerve Fibers/*pathology
MH  - Optic Atrophy, Autosomal Dominant/*diagnosis/genetics
MH  - Optic Disk/*pathology
MH  - Pedigree
MH  - Polymerase Chain Reaction
MH  - Retinal Ganglion Cells/*pathology
MH  - Scotoma/diagnosis
MH  - Tomography, Optical Coherence
MH  - Tonometry, Ocular
MH  - Visual Acuity/*physiology
MH  - Young Adult
EDAT- 2012/07/12 06:00
MHDA- 2013/08/22 06:00
CRDT- 2012/07/12 06:00
PHST- 2012/07/12 06:00 [entrez]
PHST- 2012/07/12 06:00 [pubmed]
PHST- 2013/08/22 06:00 [medline]
AID - 10.3109/13816810.2012.702259 [doi]
PST - ppublish
SO  - Ophthalmic Genet. 2013 Mar-Jun;34(1-2):69-74. doi: 10.3109/13816810.2012.702259. 
      Epub 2012 Jul 11.