Segura-Rangel I, Castellanos-Valencia A

Language: Spanish
References: 25
Page: 68-73
PDF size: 544.49 Kb.

ABSTRACT

Introduction: Duchenne muscular dystrophy is characterized by muscle weakness and abnormal retina and synapses of cortical neurons. Objective: To identify eye movement disorders in patients with Duchenne muscular dystrophy. Methodology: Cross-sectional study with Duchenne muscular dystrophy patients in rehabilitation, who underwent an eye examination, which included strabismus and visual acuity, retinoscopy, determination of the type and magnitude of strabismus, tracking and saccadic movements. Data was analyzed with descriptive statistics. Results: 14 patients, median age: 12.5 (6-24) years old. Median of Vignos was 8. Molecular study in nine patients (64.2%), of whom eight presented deletions of exons 44 to 52 (89%). Visual acuity: 0.0 and 0.1 LogMAR. Spherical equivalent of -0.50. The most common refractive error was simple myopic astigmatism in 85% of cases. Ocular motility disorders were esotropia (two), exotropia (five), hyper/hypotropia (two), difficulty in maintaining fixation (four), and one with tracking movements deficiency. Conclusions: Patients with Duchenne muscular dystrophy develop damage in brain control of fixation and attention in which visual areas get involved. The various forms of strabismus suggest that they originate from changes in visual and motor cortical areas that affect eye movements.

REFERENCES

1. Duchenne GA. Recherches sur la paralysis musculaire pseudohypertrophique ou paralysie myo-sclerosique. Arch Gen Med. 1868; 5: 179-209.

2. Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010; 9: 77-93.

3. Schram G, Fournier A, Leduc H, Dahdah N, Therien J, Vanasse M et al. All-cause mortality and cardiovascular outcomes with prophylactic steroid therapy in Duchenne muscular dystrophy. J Am Coll Cardiol. 2013; 61: 948-954.

4. Ziter FA, Allsop KG, Tyler FH. Assessment of muscle strength in Duchenne muscular dystrophy. Neurology. 1977; 27(10): 981-984.

5. Anderson JL, Head SI, Rae C, Morley JW. Brain function in Duchenne muscular dystrophy. Brain. 2002; 125: 4-13.

6. Sitnik R, Campiotto S, Vainzof M, Pavanello RC, Takata RI, Zatz M et al. Novel point mutations in the dystrophin gene. Hum Mutat. 1997; 10(3): 217-222.

7. Fokkema IF, den Dunnen JT, Taschner PE. LOVD: easy creation of a locus-specific sequence variation database using an “LSDB-in-a-box” approach. Hum Mutat. 2005; 26(2): 63-68.

8. Bunyan DJ, Skinner AC, Ashton EJ, Sillibourne J, Brown T, Collins AL et al. Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene. Mol Biotechnol. 2007; 35(2): 135-140.

9. López-Hernández LB, Vásquez-Cárdenas NA, Luna-Padrón E. Distrofia muscular de Duchenne: actualidad y perspectivas de tratamiento. Rev Neurol. 2009; 49(7): 369-375.

10. Costa MF, Oliveira AG, Feitosa-Santana C, Zatz M, Ventura DF. Red-green color vision impairment in Duchenne muscular dystrophy. Am J Hum Genet. 2007; 80(6): 1064-1075.

11. Rodríguez-Hernández M, Santiesteban-Freixas R, González SL, Guerra-Badía R, Francisco-Plasencia M, Carrero-Salgado M et al. Alteraciones en el electrorretinograma de los pacientes con distrofia muscular de Duchenne y su relación con las deleciones del gen responsable de la enfermedad. Rev Cubana de Oftalmol. 1999; 12(2): 129-135.

12. Fitzgerald KM, Cibis GW, Giambrone SA, Harris DJ. Retinal signal transmission in Duchenne muscular dystrophy: evidence for dysfunction in the photoreceptor/depolarizing bipolar cell pathway. J Clin Invest. 1994; 93(6): 2425-2430.

13. Rojas-Galindo B, Díaz-Martínez L, Montañez-Frausto M. Alteraciones visuales en pacientes con distrofia muscular de Duchenne. Rev Mex Med Fis Rehab. 2009; 21(2): 38-41.

14. Lui F, Fonda S, Merlini L, Corazza R. Saccadic eye movements are impaired in Duchenne muscular dystrophy. Doc Ophthalmol. 2001; 103(3): 219-228.

15. Di Costanzo A, Toriello A, Mottola A, Di Iorio G, Bonavita V, Tedeschi G. Relative sparing of extraocular muscles in myotonic dystrophy: an electrooculographic study. Acta Neurol Scand. 1997; 95(3): 158-163.

16. Pacheco-Pinedo EC, Budak MT, Zeiger U, Jorgensen LH, Bogdanovich S, Schroder HD et al. Transcriptional and functional differences in stem cell populations isolated from extraocular and limb muscles. Physiol Genomics. 2009; 37: 35-42.

17. Spencer RF, Porter JD. Biological organization of the extraocular muscles. Prog Brain Res. 2006; 151: 43-80.

18. Vignos PJ Jr, Spencer GE Jr, Archibald KC. Management of progressive muscular dystrophy in childhood. JAMA. 1963; 184: 89-96.

19. World Health Organization. International Statistical Classification of Diseases and Related Health Problems. Blindness and visual acuity decrease. Geneva, Switzerland: OMS; 1992.

20. Hoyt C, Taylor D. Pediatric ophthalmology and strabismus. Epidemiology and world-wide impact of visual impairment in children. 3rd ed. Edinburgh, UK: Elsevier and Saunders; 2005.

21. Kallestad K, Hebert S, McDonald A, Daniel M, Cu S, McLoon L. Sparing of extraocular muscle in aging and muscular dystrophies: a myogenic precursor cell hypothesis. Exp Cell Res. 2011; 317(6): 873-85.

22. St-Cyr G. Signal and noise in the human oculomotor system. Vision Res. 1973; 13(10): 1979-1991.

23. Verheijen FJ. A simple after-image method demon-strating the involuntary multidirectional eye movements during fixation. Opt Acta (Lond). 1961; 8: 309-311.

24. Lynch JC, McLaren JW. The contribution of parieto-occipital association cortex to the control of slow eye movements. In: Lennerstrand G, Zee DS, Keller EL, eds. Functional basis of ocular motility disorders. Oxford, England: Pergamon Press; 1982.

25. Khurana TS, Prendergast RA, Alameddine HS, Tomé FM, Fardeau M, Arahata K et al. Absence of extraocular muscle pathology in Duchenne’s muscular dystrophy: role for calcium homeostasis in extraocular muscle sparing. J Exp Med. 1995; 182(2): 467-475.