Optic atrophy in Wolfram (DIDMOAD) syndrome

Eye

Volumn 11, Issue 6, 1997, Pages 882-888

  Barrett, Timothy G ^a,d   Bundey, Sarah E ^a   Fielder, Alistair R ^b   Good, Peter A ^c  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

^c CITY HOSPITAL   (United Kingdom)

^d BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

Author keywords

DIDMOAD; Optic atrophy; Wolfram syndrome

Indexed keywords

MITOCHONDRIAL DNA;

ADOLESCENT; ADULT; ARTICLE; CENTRAL SCOTOMA; CEREBELLUM DEGENERATION; CHILD; CLINICAL ARTICLE; COLOR VISION DEFECT; DIABETIC RETINOPATHY; ELECTRORETINOGRAPHY; EVOKED VISUAL RESPONSE; FEMALE; GENE REARRANGEMENT; HUMAN; JUVENILE DIABETES MELLITUS; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; OPTIC CHIASM; OPTIC NERVE; OPTIC NERVE ATROPHY; PATHOLOGY; PUPIL REFLEX; VISUAL ACUITY; VISUAL FIELD; WOLFRAM SYNDROME;

EID: 0031466720     PISSN: 0950222X     EISSN: None     Source Type: Journal    
DOI: 10.1038/eye.1997.226     Document Type: Article

References (22)

1. Wolfram DJ, Wagener HP. Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Mayo Clin Proc 1938;9:715-8.
2. Gunn T, Bortolussi R, Little J, Andermann F, Clarke FC, Belmonte M. Juvenile diabetes mellitus, optic atrophy, sensory nerve deafness and diabetes insipidus: a syndrome. J Pediatr 1976;89:565-70.
3. Cremers CW, Wijdeveld PG, Pinckers AJ. Juvenile diabetes mellitus, optic atrophy, hearing loss diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome). Acta Pediatr Scand 1977;264(Suppl): 1-16.
4. Blasi C, Pierelli E, Rispoli E, Saponara M, Vingolo E, Andreani D. Wolfram's syndrome: a clinical, diagnostic, and interpretive contribution. Diabetes Care 1986; 9:521-8.
5. Rose FC, Fraser GR, Friedmann AI, Kohner EM The association of juvenile diabetes mellitus and optic atrophy: clinical and genetical aspects. Q J Med 1966; 353:385-405.
6. Niemeyer G, Marquardt JL. Retinal function in a unique syndrome of optic atrophy, juvenile diabetes mellitus, diabetes insipidus, neurosensory hearing loss, autonomic dysfunction, and hyperalaninuria. Invest Ophthalmol 1972;11:617-24.
7. Mtanda AT, Cruysberg JRM, Pinckers AJLG. Optic atrophy in Wolfram syndrome. Ophthalmic Paediatr Genet 1986;7:159-65.
8. Carson MJ, Slager UT, Steinberg RM. Simultaneous occurrence of diabetes mellitus, diabetes insipidus and optic atrophy in a brother and sister. Am J Dis Child 1977;131:1382-5.
9. Rando TA, Horton JC, Layzer RB. Wolfram syndrome: evidence of a diffuse neurodegenerative disease by magnetic resonance imaging. Neurology 1992;42:1220-4.
10. Polymeropoulos M, Swift R, Swift M. Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4. Nature Genet 1994:8:95-7.
11. Collier DA, Barrett TG, Curtis D, Macleod A, Arranz MJ, Maasen JA, Bundey S. Linkage of Wolfram syndrome to chromosome 4p 16.1 and evidence for heterogeneity. Am J Hum Genet 1996; 59:55-63.
12. Bundey S, Poulton K, Whitwell H, Curtis E, Brown IAR, Fielder AR. Mitochondrial abnormalities in the DIDMOAD syndrome. J Inher Metab Dis 1992; 15:315-9.
13. Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet 1995;346:1458-63.
14. Goto Y, Nonaka I, Horai S. A mutation in the tRNA Leu (UUR) gene associated with the MELAS subgroup of mitochondrial encephalopathies. Nature 1990;348:651-3.
15. Li YY, Hengstenberg C, Maisch B. Whole mitochondrial genome amplification reveals basal level multiple deletions in mtDNA of patients with dilated cardiomyopathy. Biochem Biophys Res Commun 1995;210: 211-8.
16. Pilz D, Quarrell OW, Jones EW. Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD). J med Genet 1994;31:328-30.
17. Kinsley BT, Swift M, Dumont RH, Swift RG. Morbidity and mortality in the Wolfram syndrome. Diabetes Care 1995;18:1566-70.
18. Krowlewski AH, Warram JH, Rand LI, Christlieb AR, Busick EJ, Kahn CR. Risk of proliferative diabetic retinopathy in juvenile-onset type 1 diabetes: a 40-yr followup study. Diabetes Care 1986;9: 443-52.
19. Kohner EM, Patel V, Rassam SMB. Role of blood flow and impaired autoregulation in the pathogenesis of diabetic retinopathy. Diabetes 1995;44:603-7.
20. Millar NR, editor. Walsh and Hoyt's clinical neuroophthalmology. Vol 2. Baltimore: William and Wilkins, 1985.
21. Williamson JR, Chang K, Tilton RG, Prater C, Jeffrey JR, Weigel C, et al. Increased vascular permeability in spontaneously diabetic BB/W rats and in rats with mild versus severe streptozotocin-induced diabetes: prevention by aldose reductase inhibitors and castration. Diabetes 1987;36:813-21.
22. Becker B. Diabetes mellitus and primary open-angle glaucoma. Am J Ophthalmol 1971:71:1-16.