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Retinal Telangiectasis in Facioscapulohumeral Muscular Dystrophy With Deafness

Retinal Telangiectasis in Facioscapulohumeral Muscular Dystrophy With Deafness Abstract • A 22-year-old patient with newly diagnosed facioscapulohumeral (FSH) muscular dystrophy had a macular lesion in her right eye and poor central vision, which had been present since early childhood. Fluorescein angiographic examination revealed bilateral peripheral vessel closure, peripheral retinal telangiectasis, and hyperfluorescence in both foveae. This widespread vascular abnormality was deemed responsible for her macular disease. Her mother, brother, and sister, all of whom are affected by varying degrees of FSH muscular dystrophy and clinical deafness, also have abnormal retinal vasculature, as determined by fluorescein angiography. However, none had related visual symptoms and two showed no ophthalmoscopic evidence of vascular abnormalities. In young patients with unexplained retinal vascular lesions, the diagnosis of FSH muscular dystrophy should be considered. Similarly, young patients with FSH muscular dystrophy should be examined for sight-threatening and potentially treatable vascular retinopathy. References 1. Tyler FH, Stephens FE: Studies in disorders of muscle: II. Clinical manifestations and inheritance of facioscapulohumeral dystrophy in a large family . Ann Intern Med 1950;32:640-660.Crossref 2. Carroll JE, Brooke MH: Infantile facioscapulohumeral dystrophy , in Serratrice G, Roux H (eds): Peroneal Atrophies and Related Disorders . New York, Masson Publishing USA Inc, 1979, pp 305-318. 3. Taylor DA, Carroll JE, Smith ME, et al: Facioscapulohumeral dystrophy associated with hearing loss and Coats syndrome . Ann Neurol 1982;12:395-398.Crossref 4. Wulff JD, Lin JT, Kepes JJ: Inflammatory facioscapulohumeral muscular dystrophy and Coats syndrome . Ann Neurol 1982;12:398-401.Crossref 5. Small RG: Coats' disease and muscular dystrophy . Ophthalmology 1968;72:225-231. 6. Coats G: Forms of retinal disease with massive exudation . R London Ophthalmic Hosp Rep 1908;17:440-525. 7. Coats G: A case of exudative retinitis . Ophthalmic Rev 1911;30:289-297. 8. Ridley ME, Shields JA, Brown GC, et al: Coats' disease: Evaluation of management . Ophthalmology 1982;89:1381-1387.Crossref 9. Chang M, McLean IW, Merritt JC: Coats' disease . J Pediatr Ophthalmol Strabismus 1984; 21:163-168. 10. Munsat TL, Piper D, Cancilla P, et al: Inflammatory myopathy with facioscapulohumeral distribution . Neurology 1972;22:335-347.Crossref 11. Dubowitz V: Muscle Disorders in Childhood . Philadelphia, WB Saunders Co, 1978, p 52. 12. Egerer I, Tasman W, Tomer TI: Coats' disease . Arch Ophthalmol 1974;92:109-112.Crossref 13. Manschot WA, De Bruijn WC: Coats' disease: Definition and pathogenesis . Br J Ophthalmol 1971;55:289-301.Crossref 14. Campbell FP: Coats' disease and congenital vascular retinopathy . Trans Am Ophthalmol Soc 1976;74:365-424. 15. Gass JDM: A fluorescein angiographic study of macular dysfunction secondary to retinal vascular disease . Arch Ophthalmol 1968; 80:592-605.Crossref 16. Chisholm IA, Foulds WS, Christison D: Investigation and therapy of Coats' disease . Trans Ophthalmol Soc UK 1974;94:335-341. 17. Morales AG: Coats' disease: Natural history and results of treatment . Am J Ophthalmol 1956;60:855-865. 18. Harris GS: Coats' disease: Diagnosis and treatment . Can J Ophthalmol 1970;5:311-320. 19. Spitznas M, Joussen F, Wessing A, et al: Coats' disease: An epidemiologic and fluorescein angiographic study . Graefes Arch Clin Exp Ophthalmol 1975;195:241-250.Crossref 20. Theodossiadis GP: Some clinical, fluorescein-angiographic and therapeutic aspects of Coats' disease . J Pediatr Ophthalmol Strabismus 1979;16:257-262. 21. Deutsch TA, Rabb MF, Jampol LM: Spontaneous regression of retinal lesions in Coats' disease . Can J Ophthalmol 1982;17:169-172. 22. Green WR: Bilateral Coats' disease: Massive gliosis of the retina . Arch Ophthalmol 1967; 77:378-383.Crossref 23. Woods AC, Duke JR: Coats' disease: Review of the literature, diagnostic criteria, clinical findings and plasma lipid studies . Br J Ophthalmol 1963;47:385-412.Crossref 24. Tarkkanen A, Laatikainen L: Coats' disease: Clinical, angiographic, histopathological findings and clinical management . Br J Ophthalmol 1983;67:766-776.Crossref 25. Criswick VG, Schepens CL: Familial exudative vitreoretinopathy . Am J Ophthalmol 1969; 68:578-594. 26. Canny CBL, Oliver GL: Fluorescein angiographic findings in familial exudative vitreoretinopathy . Arch Ophthalmol 1976;94:1114-1120.Crossref 27. Ober RR, Bird AC, Hamilton AM, et al: Autosomal exudative vitreoretinopathy . Br J Ophthalmol 1980;64:112-120.Crossref 28. Van Nouhuys CE: Dominant exudative vitreoretinopathy and other vascular developmental disorders of the peripheral retina , in Monographs of Ophthalmology . The Hague, Dr W Junk NV Publishers, 1982. 29. Renie WA, Murphy RP, Anderson KC, et al: Patients with Eales' disease . Retina 1983; 3:243-248.Crossref 30. Meyerson MD, Lewis EK: Facioscapulohumeral muscular dystrophy and accompanying hearing loss . Arch Otolaryngol 1984:110:261-266.Crossref 31. Tripathi R, Ashton N: Electron microscopical study of Coats' disease . Br J Ophthalmol 1971;55:289-301.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Ophthalmology American Medical Association

Retinal Telangiectasis in Facioscapulohumeral Muscular Dystrophy With Deafness

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Publisher
American Medical Association
Copyright
Copyright © 1985 American Medical Association. All Rights Reserved.
ISSN
0003-9950
eISSN
1538-3687
DOI
10.1001/archopht.1985.01050110089033
Publisher site
See Article on Publisher Site

Abstract

Abstract • A 22-year-old patient with newly diagnosed facioscapulohumeral (FSH) muscular dystrophy had a macular lesion in her right eye and poor central vision, which had been present since early childhood. Fluorescein angiographic examination revealed bilateral peripheral vessel closure, peripheral retinal telangiectasis, and hyperfluorescence in both foveae. This widespread vascular abnormality was deemed responsible for her macular disease. Her mother, brother, and sister, all of whom are affected by varying degrees of FSH muscular dystrophy and clinical deafness, also have abnormal retinal vasculature, as determined by fluorescein angiography. However, none had related visual symptoms and two showed no ophthalmoscopic evidence of vascular abnormalities. In young patients with unexplained retinal vascular lesions, the diagnosis of FSH muscular dystrophy should be considered. Similarly, young patients with FSH muscular dystrophy should be examined for sight-threatening and potentially treatable vascular retinopathy. References 1. Tyler FH, Stephens FE: Studies in disorders of muscle: II. Clinical manifestations and inheritance of facioscapulohumeral dystrophy in a large family . Ann Intern Med 1950;32:640-660.Crossref 2. Carroll JE, Brooke MH: Infantile facioscapulohumeral dystrophy , in Serratrice G, Roux H (eds): Peroneal Atrophies and Related Disorders . New York, Masson Publishing USA Inc, 1979, pp 305-318. 3. Taylor DA, Carroll JE, Smith ME, et al: Facioscapulohumeral dystrophy associated with hearing loss and Coats syndrome . Ann Neurol 1982;12:395-398.Crossref 4. Wulff JD, Lin JT, Kepes JJ: Inflammatory facioscapulohumeral muscular dystrophy and Coats syndrome . Ann Neurol 1982;12:398-401.Crossref 5. Small RG: Coats' disease and muscular dystrophy . Ophthalmology 1968;72:225-231. 6. Coats G: Forms of retinal disease with massive exudation . R London Ophthalmic Hosp Rep 1908;17:440-525. 7. Coats G: A case of exudative retinitis . Ophthalmic Rev 1911;30:289-297. 8. Ridley ME, Shields JA, Brown GC, et al: Coats' disease: Evaluation of management . Ophthalmology 1982;89:1381-1387.Crossref 9. Chang M, McLean IW, Merritt JC: Coats' disease . J Pediatr Ophthalmol Strabismus 1984; 21:163-168. 10. Munsat TL, Piper D, Cancilla P, et al: Inflammatory myopathy with facioscapulohumeral distribution . Neurology 1972;22:335-347.Crossref 11. Dubowitz V: Muscle Disorders in Childhood . Philadelphia, WB Saunders Co, 1978, p 52. 12. Egerer I, Tasman W, Tomer TI: Coats' disease . Arch Ophthalmol 1974;92:109-112.Crossref 13. Manschot WA, De Bruijn WC: Coats' disease: Definition and pathogenesis . Br J Ophthalmol 1971;55:289-301.Crossref 14. Campbell FP: Coats' disease and congenital vascular retinopathy . Trans Am Ophthalmol Soc 1976;74:365-424. 15. Gass JDM: A fluorescein angiographic study of macular dysfunction secondary to retinal vascular disease . Arch Ophthalmol 1968; 80:592-605.Crossref 16. Chisholm IA, Foulds WS, Christison D: Investigation and therapy of Coats' disease . Trans Ophthalmol Soc UK 1974;94:335-341. 17. Morales AG: Coats' disease: Natural history and results of treatment . Am J Ophthalmol 1956;60:855-865. 18. Harris GS: Coats' disease: Diagnosis and treatment . Can J Ophthalmol 1970;5:311-320. 19. Spitznas M, Joussen F, Wessing A, et al: Coats' disease: An epidemiologic and fluorescein angiographic study . Graefes Arch Clin Exp Ophthalmol 1975;195:241-250.Crossref 20. Theodossiadis GP: Some clinical, fluorescein-angiographic and therapeutic aspects of Coats' disease . J Pediatr Ophthalmol Strabismus 1979;16:257-262. 21. Deutsch TA, Rabb MF, Jampol LM: Spontaneous regression of retinal lesions in Coats' disease . Can J Ophthalmol 1982;17:169-172. 22. Green WR: Bilateral Coats' disease: Massive gliosis of the retina . Arch Ophthalmol 1967; 77:378-383.Crossref 23. Woods AC, Duke JR: Coats' disease: Review of the literature, diagnostic criteria, clinical findings and plasma lipid studies . Br J Ophthalmol 1963;47:385-412.Crossref 24. Tarkkanen A, Laatikainen L: Coats' disease: Clinical, angiographic, histopathological findings and clinical management . Br J Ophthalmol 1983;67:766-776.Crossref 25. Criswick VG, Schepens CL: Familial exudative vitreoretinopathy . Am J Ophthalmol 1969; 68:578-594. 26. Canny CBL, Oliver GL: Fluorescein angiographic findings in familial exudative vitreoretinopathy . Arch Ophthalmol 1976;94:1114-1120.Crossref 27. Ober RR, Bird AC, Hamilton AM, et al: Autosomal exudative vitreoretinopathy . Br J Ophthalmol 1980;64:112-120.Crossref 28. Van Nouhuys CE: Dominant exudative vitreoretinopathy and other vascular developmental disorders of the peripheral retina , in Monographs of Ophthalmology . The Hague, Dr W Junk NV Publishers, 1982. 29. Renie WA, Murphy RP, Anderson KC, et al: Patients with Eales' disease . Retina 1983; 3:243-248.Crossref 30. Meyerson MD, Lewis EK: Facioscapulohumeral muscular dystrophy and accompanying hearing loss . Arch Otolaryngol 1984:110:261-266.Crossref 31. Tripathi R, Ashton N: Electron microscopical study of Coats' disease . Br J Ophthalmol 1971;55:289-301.Crossref

Journal

Archives of OphthalmologyAmerican Medical Association

Published: Nov 1, 1985

References

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