Journal article
Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients
Retina (Philadelphia, Pa.), Vol.31(3), pp.581-595
03/2011
DOI: 10.1097/IAE.0b013e318203ee60
PMID: 21273940
Abstract
To report 11 cases of autosomal recessive vitelliform macular dystrophy and to compare their molecular findings and phenotypic characteristics with those of patients with the more common and well-described dominant form of the disease. Blood samples were obtained from 435 unrelated individuals with a clinical diagnosis of vitelliform macular dystrophy and screened for mutations in the coding sequences of BEST1. Medical records and retinal photographs of selected patients were reviewed. Nine of the 435 probands were found to have 2 plausible disease-causing variations in BEST1, while 198 individuals were found to have heterozygous variations compatible with autosomal dominant inheritance. Inheritance phase was determined in three of the recessive families. Six novel disease-causing mutations were identified among these recessive patients: Arg47Cys, IVS7-2A>G, IVS7+4G>A, Ile205del12ATCCTGCTCCAGAG, Pro274Arg, and Ile366delCAGGTGTGGC. Forty-four novel disease-causing mutations were identified among the patients with presumed autosomal dominant disease. The phenotype of patients with recessive alleles for BEST1 ranged from typical vitelliform lesions to extensive extramacular deposits. The authors provide evidence that two abnormal BEST1 alleles, neither of which causes macular disease alone, can act in concert to cause early-onset vitelliform macular dystrophy.
Details
- Title: Subtitle
- Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients
- Creators
- Tyson R Kinnick - Department of Ophthalmology and Visual Sciences, Carver Family Center for Macular Degeneration, University of Iowa, Iowa City, Iowa 52242, USARobert F MullinsSundeep DevMonique LeysDavid A MackeyChristine N KayByron L LamGerald A FishmanElias TraboulsiRaymond IezziEdwin M Stone
- Resource Type
- Journal article
- Publication Details
- Retina (Philadelphia, Pa.), Vol.31(3), pp.581-595
- DOI
- 10.1097/IAE.0b013e318203ee60
- PMID
- 21273940
- NLM abbreviation
- Retina
- ISSN
- 0275-004X
- eISSN
- 1539-2864
- Publisher
- United States
- Grant note
- EY016822 / NEI NIH HHS Howard Hughes Medical Institute EY017451 / NEI NIH HHS
- Language
- English
- Date published
- 03/2011
- Academic Unit
- Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
- Record Identifier
- 9983979990302771
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