PMID- 21778272
OWN - NLM
STAT- MEDLINE
DCOM- 20111201
LR  - 20220309
IS  - 1552-5783 (Electronic)
IS  - 0146-0404 (Print)
IS  - 0146-0404 (Linking)
VI  - 52
IP  - 10
DP  - 2011 Sep 21
TI  - Photoreceptor structure and function in patients with congenital achromatopsia.
PG  - 7298-308
LID - 10.1167/iovs.11-7762 [doi]
AB  - PURPOSE: To assess photoreceptor structure and function in patients with 
      congenital achromatopsia. METHODS: Twelve patients were enrolled. All patients 
      underwent a complete ocular examination, spectral-domain optical coherence 
      tomography (SD-OCT), full-field electroretinographic (ERG), and color vision 
      testing. Macular microperimetry (MP; in four patients) and adaptive optics (AO) 
      imaging (in nine patients) were also performed. Blood was drawn for screening of 
      disease-causing genetic mutations. RESULTS: Mean (+/- SD) age was 30.8 (+/- 16.6) 
      years. Mean best-corrected visual acuity was 0.85 (+/- 0.14) logarithm of the 
      minimal angle of resolution (logMAR) units. Seven patients (58.3%) showed either 
      an absent foveal reflex or nonspecific retinal pigment epithelium mottling to 
      mild hypopigmentary changes on fundus examination. Two patients showed an 
      atrophic-appearing macular lesion. On anomaloscopy, only 5 patients matched over 
      the entire range from 0 to 73. SD-OCT examination showed a disruption or loss of 
      the macular inner/outer segments (IS/OS) junction of the photoreceptors in 10 
      patients (83.3%). Seven of these patients showed an optically empty space at the 
      level of the photoreceptors in the fovea. AO images of the photoreceptor mosaic 
      were highly variable but significantly disrupted from normal. On ERG testing, 10 
      patients (83.3%) showed evidence of residual cone responses to a single-flash 
      stimulus response. The macular MP testing showed that the overall mean retinal 
      sensitivity was significantly lower than normal (12.0 vs. 16.9 dB, P < 0.0001). 
      CONCLUSIONS: The current approach of using high-resolution techniques to assess 
      photoreceptor structure and function in patients with achromatopsia should be 
      useful in guiding selection of patients for future therapeutic trials as well as 
      monitoring therapeutic response in these trials.
FAU - Genead, Mohamed A
AU  - Genead MA
AD  - Department of Ophthalmology and Visual Sciences, University of Illinois at 
      Chicago, Chicago, Illinois, USA.
FAU - Fishman, Gerald A
AU  - Fishman GA
FAU - Rha, Jungtae
AU  - Rha J
FAU - Dubis, Adam M
AU  - Dubis AM
FAU - Bonci, Daniela Maria O
AU  - Bonci DM
FAU - Dubra, Alfredo
AU  - Dubra A
FAU - Stone, Edwin M
AU  - Stone EM
FAU - Neitz, Maureen
AU  - Neitz M
FAU - Carroll, Joseph
AU  - Carroll J
LA  - eng
GR  - R01 EY017607-05/EY/NEI NIH HHS/United States
GR  - P30EY001792/EY/NEI NIH HHS/United States
GR  - R01EY017607/EY/NEI NIH HHS/United States
GR  - C06 RR-RR016511/RR/NCRR NIH HHS/United States
GR  - R01 EY017607/EY/NEI NIH HHS/United States
GR  - T32EY014537/EY/NEI NIH HHS/United States
GR  - T32 EY014537/EY/NEI NIH HHS/United States
GR  - C06 RR016511/RR/NCRR NIH HHS/United States
GR  - P30 EY001931/EY/NEI NIH HHS/United States
GR  - P30 EY001792/EY/NEI NIH HHS/United States
GR  - P30EY001931/EY/NEI NIH HHS/United States
GR  - P30 EY001730/EY/NEI NIH HHS/United States
GR  - P30EY001730/EY/NEI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20110921
PL  - United States
TA  - Invest Ophthalmol Vis Sci
JT  - Investigative ophthalmology & visual science
JID - 7703701
RN  - 0 (CNGA3 protein, human)
RN  - 0 (CNGB3 protein, human)
RN  - 0 (Cyclic Nucleotide-Gated Cation Channels)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Color Perception Tests
MH  - Color Vision Defects/congenital/genetics/*physiopathology
MH  - Cyclic Nucleotide-Gated Cation Channels/genetics
MH  - DNA Mutational Analysis
MH  - Electroretinography
MH  - Exons/genetics
MH  - Female
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Mutation
MH  - Photic Stimulation
MH  - Photoreceptor Cells, Vertebrate/*pathology
MH  - Polymerase Chain Reaction
MH  - Tomography, Optical Coherence
MH  - Visual Acuity/physiology
MH  - Visual Field Tests
PMC - PMC3183969
EDAT- 2011/07/23 06:00
MHDA- 2011/12/13 00:00
PMCR- 2012/03/01
CRDT- 2011/07/23 06:00
PHST- 2011/07/23 06:00 [entrez]
PHST- 2011/07/23 06:00 [pubmed]
PHST- 2011/12/13 00:00 [medline]
PHST- 2012/03/01 00:00 [pmc-release]
AID - iovs.11-7762 [pii]
AID - 11-7762 [pii]
AID - 10.1167/iovs.11-7762 [doi]
PST - epublish
SO  - Invest Ophthalmol Vis Sci. 2011 Sep 21;52(10):7298-308. doi: 
      10.1167/iovs.11-7762.