Autosomal dominant stargardt-like macular dystrophy: Identification of a new family with a mutation in the ELOVL4 gene

American Journal of Ophthalmology

Volumn 136, Issue 3, 2003, Pages 542-545

  Vrabec, Tamara R ^a   Tantri, Avinash ^a   Edwards, Albert ^b   Frost, Arcilee ^a   Donoso, Larry A ^a  

^a WILLS EYE HOSPITAL   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CLINICAL EXAMINATION; CLINICAL FEATURE; CONTROLLED STUDY; DNA SEQUENCE; DOMINANT GENE; ELOVL4 GENE; EXON; FAMILIAL DISEASE; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENEALOGY; GENETIC COUNSELING; GENETIC EPIDEMIOLOGY; GENETIC SCREENING; HUMAN; MALE; MUTATIONAL ANALYSIS; ONSET AGE; OPHTHALMOSCOPY; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; SEQUENCE ANALYSIS; STARGARDT DISEASE; VISUAL IMPAIRMENT;

EID: 0041326353     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(03)00227-7     Document Type: Article

References (5)

1. Donoso L.A., Edwards A.O., Frost A., et al. Autosomal dominant Stargardt-like macular dystrophy. Surv Ophthalmol. 46:2001;149-163.
2. Zhang K., Kniazeva M., Han M., et al. A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nat Genet. 27:2001;89-93.
3. Edwards A.O., Donoso L.A., Ritter R. A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family. Invest Ophthalmol. 42:2001;2652-2663.
4. Bernstein P.S., Tammur J., Singh N., et al. Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene. Invest Ophthalmol. 42:2001;3331-3336.
5. Donoso L.A., Frost A.T., Stone E.M., et al. Autosomal dominant Stargardt-like macular dystrophy. Arch Ophthalmol. 119:2001;564-570.