PMID- 10453731
OWN - NLM
STAT- MEDLINE
DCOM- 19990902
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 104
IP  - 6
DP  - 1999 Jun
TI  - Evaluation of the Best disease gene in patients with age-related macular
      degeneration and other maculopathies.
PG  - 449-53
AB  - Vitelliform macular dystrophy (VMD2, Best disease, MIM153700) is an early onset, 
      autosomal, dominant macular degeneration characterized by the deposition of
      lipofuscin-like material within and below the retinal pigment epithelium (RPE);
      it is associated with degeneration of the RPE and overlying photoreceptors.
      Recently, we cloned the gene bestrophin, which is responsible for the disease,
      and identified a number of causative mutations in families with VMD2. Here, we
      report that the analysis of bestrophin in a collection of 259 age-related macular
      degeneration (AMD) patients provides evidence that mutations in the Best disease 
      gene do not play a significant role in the predisposition of individuals to AMD. 
      However, our results suggest that, in addition to Best disease, mutations within 
      the bestrophin gene could be responsible for other forms of maculopathy with
      phenotypic characteristics similar to Best disease and for other diseases not
      included in the VMD category.
FAU - Allikmets, R
AU  - Allikmets R
AD  - Intramural Research Support Program, SAIC-Frederick, National Cancer
      Institute-Frederick Cancer Research and Development Center, MD 21702-1201, USA.
      rla22@columbia.edu
FAU - Seddon, J M
AU  - Seddon JM
FAU - Bernstein, P S
AU  - Bernstein PS
FAU - Hutchinson, A
AU  - Hutchinson A
FAU - Atkinson, A
AU  - Atkinson A
FAU - Sharma, S
AU  - Sharma S
FAU - Gerrard, B
AU  - Gerrard B
FAU - Li, W
AU  - Li W
FAU - Metzker, M L
AU  - Metzker ML
FAU - Wadelius, C
AU  - Wadelius C
FAU - Caskey, C T
AU  - Caskey CT
FAU - Dean, M
AU  - Dean M
FAU - Petrukhin, K
AU  - Petrukhin K
LA  - eng
GR  - EY11309/EY/NEI NIH HHS/United States
GR  - EY11600/EY/NEI NIH HHS/United States
GR  - N01-CO-56000/CO/NCI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (BEST1 protein, human)
RN  - 0 (Best1 protein, mouse)
RN  - 0 (Bestrophins)
RN  - 0 (Chloride Channels)
RN  - 0 (Eye Proteins)
RN  - 0 (Ion Channels)
SB  - IM
MH  - Adult
MH  - Age Factors
MH  - Age of Onset
MH  - Aged
MH  - Alleles
MH  - Animals
MH  - Bestrophins
MH  - Chloride Channels
MH  - Eye Proteins/*genetics
MH  - Genetic Variation
MH  - Humans
MH  - Ion Channels
MH  - Macular Degeneration/*genetics/pathology
MH  - Mice
MH  - Phenotype
MH  - Point Mutation
EDAT- 1999/08/24 00:00
MHDA- 1999/08/24 00:01
CRDT- 1999/08/24 00:00
PHST- 1999/08/24 00:00 [pubmed]
PHST- 1999/08/24 00:01 [medline]
PHST- 1999/08/24 00:00 [entrez]
AID - 10.1007/s004390050986 [doi]
PST - ppublish
SO  - Hum Genet. 1999 Jun;104(6):449-53. doi: 10.1007/s004390050986.