PMID- 20574029
OWN - NLM
STAT- MEDLINE
DCOM- 20101207
LR  - 20220309
IS  - 1552-5783 (Electronic)
IS  - 0146-0404 (Linking)
VI  - 51
IP  - 11
DP  - 2010 Nov
TI  - Progressive loss of cones in achromatopsia: an imaging study using 
      spectral-domain optical coherence tomography.
PG  - 5952-7
LID - 10.1167/iovs.10-5680 [doi]
AB  - PURPOSE: Achromatopsia (ACHM) is a congenital autosomal recessive cone disorder 
      with a presumed stationary nature and only a few causative genes. Animal studies 
      suggest that ACHM may be a good candidate for corrective gene therapy. Future 
      implementation of this therapy in humans requires the presence of viable cone 
      cells in the retina. In this study the presence of cone cells in ACHM was 
      determined, as a function of age. METHODS: The appearance and thickness of all 
      retinal layers were evaluated by spectral-domain optical coherence tomography 
      (SD-OCT) in 40 ACHM patients (age range, 4-70 years) with known mutations in the 
      CNGB3, CNGA3, and PDE6C genes. A comparison was made with 55 healthy age-matched 
      control subjects. RESULTS: The initial feature of cone cell decay was loss of 
      inner and outer segments with disruption of the ciliary layer on OCT, which was 
      observed as early as 8 years of age. Cone cell loss further progressed with age 
      and occurred in 8 (42%) of 19 patients below 30 years and in 20 (95%) of 21 of 
      those aged 30+ years. Retinal thickness was significantly thinner in the fovea of 
      all patients (126 mum in ACHM vs. 225 mum in the control; P < 0.001) and correlated 
      with age (beta = 0.065; P = 0.011). Foveal hypoplasia was present in 24 (80%) of 30 
      patients and in 1 of 55 control subjects. CONCLUSIONS: ACHM is not a stationary 
      disease. The first signs of cone cell loss occur in early childhood. If 
      intervention becomes available in the future, the present results imply that it 
      should be applied in the first decade.
FAU - Thiadens, Alberta A H J
AU  - Thiadens AA
AD  - Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands.
FAU - Somervuo, Ville
AU  - Somervuo V
FAU - van den Born, L Ingeborgh
AU  - van den Born LI
FAU - Roosing, Susanne
AU  - Roosing S
FAU - van Schooneveld, Mary J
AU  - van Schooneveld MJ
FAU - Kuijpers, Robert W A M
AU  - Kuijpers RW
FAU - van Moll-Ramirez, Norka
AU  - van Moll-Ramirez N
FAU - Cremers, Frans P M
AU  - Cremers FP
FAU - Hoyng, Carel B
AU  - Hoyng CB
FAU - Klaver, Caroline C W
AU  - Klaver CC
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20100623
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)
RN  - 0 (Eye Proteins)
RN  - EC 3.1.4.35 (Cyclic Nucleotide Phosphodiesterases, Type 6)
RN  - EC 3.1.4.35 (PDE6C protein, human)
RN  - Achromatopsia incomplete, X-linked
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Cell Death
MH  - Child
MH  - Child, Preschool
MH  - Color Vision Defects/diagnosis/genetics
MH  - Cyclic Nucleotide Phosphodiesterases, Type 6/genetics
MH  - Cyclic Nucleotide-Gated Cation Channels/genetics
MH  - Eye Proteins/genetics
MH  - Female
MH  - Fovea Centralis/abnormalities
MH  - Genetic Diseases, X-Linked/diagnosis/genetics
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Retinal Cone Photoreceptor Cells/*pathology
MH  - *Tomography, Optical Coherence
MH  - Visual Acuity
MH  - Young Adult
EDAT- 2010/06/25 06:00
MHDA- 2010/12/14 06:00
CRDT- 2010/06/25 06:00
PHST- 2010/06/25 06:00 [entrez]
PHST- 2010/06/25 06:00 [pubmed]
PHST- 2010/12/14 06:00 [medline]
AID - iovs.10-5680 [pii]
AID - 10.1167/iovs.10-5680 [doi]
PST - ppublish
SO  - Invest Ophthalmol Vis Sci. 2010 Nov;51(11):5952-7. doi: 10.1167/iovs.10-5680. 
      Epub 2010 Jun 23.