Diagnosis of maternally inherited diabetes and deafness (mitochondrial A3243G mutation) based on funduscopic appearance in an asymptomatic patient

British Journal of Ophthalmology

Volumn 96, Issue 4, 2012, Pages

  Strauss, Danielle Savitsky ^a   Freund, K Bailey ^a,b  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b VITREOUS RETINA MACULA CONSULTANTS OF NEW YORK   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AGED; ARTICLE; ASYMPTOMATIC DISEASE; AUTOFLUORESCENCE IMAGING; CASE REPORT; CATARACT; CLINICAL EXAMINATION; DISEASE ASSOCIATION; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; MALE; MATERNALLY INHERITED DIABETES AND DEAFNESS; METAMORPHOSIS; MITOCHONDRIAL GENE; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PHOTORECEPTOR MEMBRANE; PRIORITY JOURNAL; RETINA MACULA VITELLIFORM DEGENERATION; RETINA PIGMENT DEGENERATION; VISUAL ACUITY;

AGED; DEAFNESS; DIABETES MELLITUS, TYPE 2; DIAGNOSIS, DIFFERENTIAL; DNA, MITOCHONDRIAL; HUMANS; MALE; MITOCHONDRIA; MUTATION; OPHTHALMOSCOPY; RETINA;

EID: 84858339243     PISSN: 00071161     EISSN: 14682079     Source Type: Journal    
DOI: 10.1136/bjophthalmol-2011-300004     Document Type: Article

References (4)

1. Rath PP, Jenkins S, Michaelides M, et al. Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence. Br J Ophthalmol 2008;92:623-9. (Pubitemid 351684170)
2. Isashiki Y, Nakagawa M, Ohba N, et al. Retinal manifestations in mitochondrial diseases associated with mitochondrial DNA mutation. Acta Ophthalmol Scand 1998;76:6-13. (Pubitemid 28120592)
3. Michaelides M, Jenkins SA, Bamiou DE, et al. Macular dystrophy associated with the A3243G mitochondrial DNA mutation. Distinct retinal and associated features, disease variability, and characterization of asymptomatic family members. Arch Ophthalmol 2008;126:320-8. (Pubitemid 351398454)
4. Guillausseau PJ, Massin P, Dubois-LaForgue D, et al. Maternally inherited diabetes and deafness: a multicenter study. Ann Intern Med 2001;134:721-8. (Pubitemid 32402064)