PMID- 10218695
OWN - NLM
STAT- MEDLINE
DCOM- 19990428
LR  - 20190627
IS  - 0002-9394 (Print)
IS  - 0002-9394 (Linking)
VI  - 127
IP  - 4
DP  - 1999 Apr
TI  - Autosomal dominant Stargardt-like macular dystrophy: I. Clinical
      characterization, longitudinal follow-up, and evidence for a common ancestry in
      families linked to chromosome 6q14.
PG  - 426-35
AB  - PURPOSE: Characterize the phenotype of autosomal dominant Stargardt-like macular 
      dystrophy in two families linked to chromosome 6q14 and determine whether they
      share a common ancestry. METHODS: Two families spanning 10 generations were
      identified and studied independently. Participating members were examined and
      genetic linkage and genotyping performed. RESULTS: Presenting symptoms included
      decreased vision, hemeralopia, and mild photophobia. The subjective onset of
      visual loss ranged from age 3 to 50 with a mean of 14 years. A Snellen acuity of 
      20/200 occurred at a mean age of 22 years. Over decades, the macular lesion
      enlarged and visual acuity decreased to 20/300 to 20/800. The typical phenotype
      was well-circumscribed, homogenous atrophy of the retinal pigment epithelium and 
      choriocapillaris in the macula, with surrounding yellow flecks and temporal optic
      nerve pallor. The phenotypic spectrum included a pattern dystrophy-like
      appearance, diffuse geographic atrophy, and extensive fundus flecks. Genotyping
      revealed that the two families were linked to chromosome 6q14 and shared a common
      haplotype spanning 21 cM between D6S430 and D6S300. The two families were
      subsequently shown by genealogic investigation to represent different branches of
      a common kindred. CONCLUSIONS: Families with autosomal dominant Stargardt-like
      macular dystrophy linked to chromosome 6q14 share a common phenotype and in some 
      cases can be distinguished from similar dystrophies by inheritance pattern and
      clinical features. The finding that these two families shared a common ancestor
      suggests the existence of a founder effect. Characterization of the gene for
      autosomal dominant Stargardt-like macular dystrophy may enable better
      understanding of this condition and elucidation of its potential role in other
      forms of macular degeneration.
FAU - Edwards, A O
AU  - Edwards AO
AD  - Casey Eye Institute, Department of Ophthalmology, Oregon Health Sciences
      University, Portland, USA.
FAU - Miedziak, A
AU  - Miedziak A
FAU - Vrabec, T
AU  - Vrabec T
FAU - Verhoeven, J
AU  - Verhoeven J
FAU - Acott, T S
AU  - Acott TS
FAU - Weleber, R G
AU  - Weleber RG
FAU - Donoso, L A
AU  - Donoso LA
LA  - eng
GR  - R01 EY012699-04/EY/NEI NIH HHS/United States
GR  - R01 EY003279/EY/NEI NIH HHS/United States
GR  - R01 EY012699-02/EY/NEI NIH HHS/United States
GR  - R01 EY012699-01/EY/NEI NIH HHS/United States
GR  - R01 EY012699-03/EY/NEI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Ophthalmol
JT  - American journal of ophthalmology
JID - 0370500
SB  - AIM
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Child
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 6/*genetics
MH  - Female
MH  - Fluorescein Angiography
MH  - Follow-Up Studies
MH  - Fundus Oculi
MH  - Genetic Linkage/*genetics
MH  - Genotype
MH  - Haplotypes/genetics
MH  - Humans
MH  - Macular Degeneration/diagnosis/*genetics
MH  - Male
MH  - Middle Aged
MH  - Pedigree
MH  - Phenotype
MH  - Vision Disorders/diagnosis/genetics
MH  - Visual Acuity
EDAT- 1999/04/28 00:00
MHDA- 1999/04/28 00:01
CRDT- 1999/04/28 00:00
PHST- 1999/04/28 00:00 [pubmed]
PHST- 1999/04/28 00:01 [medline]
PHST- 1999/04/28 00:00 [entrez]
AID - S0002939498003316 [pii]
AID - 10.1016/s0002-9394(98)00331-6 [doi]
PST - ppublish
SO  - Am J Ophthalmol. 1999 Apr;127(4):426-35. doi: 10.1016/s0002-9394(98)00331-6.