Fine central macular dots associated with childhood-onset Stargardt Disease

Acta Ophthalmologica

Volumn 92, Issue 2, 2014, Pages

  Fujinami, Kaoru ^a,b,c,d   Singh, Ravjit ^a,b,e   Carroll, Joseph ^f   Zernant, Jana ^g   Allikmets, Rando ^g,h   Michaelides, Michel ^a,b   Moore, Anthony T ^a,b  

^a MOORFIELDS EYE HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c NATIONAL HOSPITAL ORGANIZATION TOKYO MEDICAL CENTER   (Japan)

^d KEIO UNIVERSITY   (Japan)

^e UNIVERSITY OF NEW SOUTH WALES   (Australia)

^f MEDICAL COLLEGE OF WISCONSIN   (United States)

^g Och Spine at New York Presbyterian Hospitals   (United States)

^h Department of Medicine   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABCA4 GENE; AUTOFLUORESCENCE IMAGING; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE ASSOCIATION; FEMALE; GENE; HUMAN; LETTER; MEDICAL HISTORY; ONSET AGE; OPTICAL COHERENCE TOMOGRAPHY; PHENOTYPIC VARIATION; PRIORITY JOURNAL; RDH5 GENE; RETINA MACULA DEGENERATION; RPE65 GENE; STARGARDT DISEASE; VISUAL ACUITY;

ATP-BINDING CASSETTE TRANSPORTERS; CHILD; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; FLUORESCEIN ANGIOGRAPHY; HUMANS; MACULAR DEGENERATION; MUTATION; RETINAL DISEASES; SIBLINGS; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY;

EID: 84896726239     PISSN: 1755375X     EISSN: 17553768     Source Type: Journal    
DOI: 10.1111/aos.12259     Document Type: Letter

References (5)

1. Allikmets R, Singh N, Sun H, et al. (1997): A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 15: 236-246.
2. Burke TR, Yzer S, Zernant J, Smith RT, Tsang SH, &, Allikmets R, (2013): Abnormality in the external limiting membrane in early Stargardt Disease. Ophthalmic Genet 34: 75-77.
3. Michaelides M, Hunt DM, &, Moore AT, (2003): The genetics of inherited macular dystrophies. J Med Genet 40: 641-650.
4. Sergouniotis PI, Sohn EH, Li Z, et al. (2012): Phenotypic Variability in RDH5 Retinopathy (Fundus Albipunctatus). Ophthalmology 118: 1661-1670.
5. Weleber RG, Michaelides M, Trzupek KM, Stover NB, &, Stone EM, (2011): The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis. Invest Ophthalmol Vis Sci 52: 292-302.