PDF herunterladen
CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2016; 74(03): 183-188
DOI: 10.1590/0004-282X20150218
ARTICLE

Myotonic dystrophy type 1: frequency of ophthalmologic findings

Distrofia miotçnica tipo 1: frequência dos achados oftalmológicos
Karin Suzete Ikeda
1   Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Oftalmologia, Campinas SP, Brazil;
,
Cristina Iwabe-Marchese
2   Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Neurologia, Campinas SP, Brazil.
,
Marcondes Cavalcante França Jr
2   Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Neurologia, Campinas SP, Brazil.
,
Anamarli Nucci
2   Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Neurologia, Campinas SP, Brazil.
,
Keila Monteiro de Carvalho
1   Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Oftalmologia, Campinas SP, Brazil;
› Institutsangaben
› Weitere Informationen
Auch verfügbar auf
   Lizenzen und Reprints

ABSTRACT

The purpose of the study was to evaluate the frequency of ophthalmologic abnormalities in a cohort of myotonic dystrophy type 1 (DM1) patients and to correlate them with motor function. We reviewed the pathophysiology of cataract and low intraocular pressure (IOP).

MethodPatients were included after clinical and laboratory diagnosis and after signed informed consent. They were evaluated by Motor Function Measure scale, Portuguese version (MFM-P) and ophthalmic protocol.

Results We evaluated 42 patients aged 17 to 64 years (mean 40.7 ± 12.5), 22 of which were men. IOP (n = 41) was reduced in all but one. We found cataract or positivity for surgery in 38 (90.48%) and ptosis in 23 (54.76%). These signs but not IOP were significantly correlated with severity of motor dysfunction. Abnormalities in ocular motility and stereopsis were observed.

Conclusion Cataract and ptosis are frequent in DM1 and associated to motor dysfunction. Reduced IOP is also common, but appears not to be related with motor impairment.

RESUMO

O objetivo do estudo foi avaliar a frequência das anormalidades oftalmológicas em uma coorte de pacientes com distrofia miotçnica tipo 1 (DM1) correlacionando-as à função motora. Revisamos a fisiopatogenia da catarata e baixa pressão intraocular (PIO).

MétodoOs pacientes foram incluídos após diagnóstico clínico-laboratorial de DM1. Aqueles que assinaram o termo de participação foram avaliados pela escala medida da função motora, versão em português (MFM-P) e protocolo oftalmológico.

Resultados Avaliamos 42 pacientes de 17 a 64 anos (média 40,7 ± 12,5), 22 do sexo masculino. Encontramos catarata ou positividade de cirurgia em 38 (90,48%) e blefaroptose em 23 (54,76%) e esses sinais foram correlacionados significativamente à maior gravidade da disfunção motora. Baixa PIO também foi comum e não correlacionada à gravidade motora. Alterações da motilidade ocular e de estereopsia ocorreram.

Conclusão Catarata e ptose palpebral são frequentes na DM1 e associadas à gravidade motora. Baixa PIO é comum e parece ser independente da evolução motora.

myotonic dystrophy type 1 - cataract - eyelid ptosis - intraocular pressure - Motor Function Measure scale - Portuguese version
distrofia miotçnica tipo 1 - catarata - ptose palpebral - pressão intraocular - escala Medida da Função Motora - versão em português


Publikationsverlauf

Eingereicht: 06. Juli 2015

Angenommen: 17. November 2015

Artikel online veröffentlicht:
06. September 2023

© 2023. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

Thieme Revinter Publicações Ltda.
Rua do Matoso 170, Rio de Janeiro, RJ, CEP 20270-135, Brazil

 

  • References

  • 1 Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3’ untranslated region of the gene. Science. 1992;255(5049):1253-5. doi:10.1126/science.1546325
  • 2 Fu YH, Pizzuti A, Fenwick RG Jr, King J, Rajnarayan S, Dunne PW et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science. 1992;255(5049):1256-8. doi:10.1126/science.1546326
  • 3 Brook JD, McCurrach ME, Harley HG, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3’ end of transcript encoding a protein kinase family member. Cell. 1992;68(4):799-808. doi:10.1016/0092-8674(92)90154-5
  • 4 Sicot G, Gourdon G, Gomes-Pereira M. Myotonic dystrophy, when simple repeats reveal complex pathogenic entities: new findings and future challenges. Hum Mol Genet. 2011;20 (R2):R116-23. doi:10.1093/hmg/ddr343
  • 5 Harper PS. The eye in myotonic dystrophy. In: Harper PS editor, Myotonic dystrophy. London: WB Saunders; 2001. Chapter 8, p. 199-221.
  • 6 Burian HM, Burns CA. Ocular changes in myotonic dystrophy. Am J Ophthalmol. 1967;63(1):22-34. doi:10.1016/0002-9394(67)90577-6
  • 7 Kidd A, Turnpenny P, Kelly K Clark C, Church W, Hutchinson C et al. Ascertainment of myotonic dystrophy through cataract by selective screening. J Med Genet. 1995;32(7):519-23. doi:10.1136/jmg.32.7.519
  • 8 Rojas MVM, Chimelli LMC, Simões AL. [Myotonic dystrophy type 1 in cataract patients: Molecular diagnosis for screening and genetic counseling]. Arq Bras Oftalmol. 2005;68(1):15-20. Portuguese. doi:10.1590/S0004-27492005000100004
  • 9 Iwabe C, Miranda-Pfeilsticker BH, Nucci A. Motor function measure scale: Portuguese version and reliability analysis. Rev Bras Fisioter. 2008;12(5):417-24. doi:10.1590/S1413-35552008000500012
  • 10 Messias A, Jorge R, Cruz AAV. [Logarithmic visual acuity charts: reasons to use and how to design it]. Arq Bras Oftalmol. 2010;73(1):96-100. Portuguese. doi:10.1590/S0004-27492010000100019
  • 11 Reiter C, Gramer E. [Anticipation in patients with iridescent multicoloured posterior capsular lens opacities (“Christmas tree cataract”): the role in the diagnosis of myotonic dystrophy]. Ophthalmologe. 2009;106(12):1116-20. German. doi:10.1007/s00347-009-1924-2
  • 12 Abe T, Sato M, Kuboki J, Kano T, Tamai M. Lens epithelial changes and mutated gene expression in patients with myotonic dystrophy. Br J Opthalmol. 1999;83(4):452-7. doi:10.1136/bjo.83.4.452
  • 13 Klesert TR, Cho DH, Clark JI, Maylie J, Adelman J, Snider L et al. Mice deficient in Six5 develops cataracts: implications for myotonic dystrophy. Nat Genet. 2000;25(1):105-9. doi:10.1038/75490
  • 14 Sarkar PS, Appukuttan B, Han J, Ito Y, Ai C, Tsai W et al. Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts. Nat Genet. 2000:25(1):110-4. doi:10.1038/75500
  • 15 Rhodes JD, Monckton DG, McAbney JP, Prescott AR, Duncan G. Increased SK3 expression in DM1 lens cells leads to impaired growth through a greater calcium-induced fragility. Hum Mol Genet. 2006;15(24):3559-68. doi:10.1093/hmg/ddl432
  • 16 Medica I, Teran N, Volk M, Pfeifer V, Ladavac E, Peterlin B. Patients with primary cataract as a genetic pool of DMPK protomutation. J Hum Genet. 2007;52(2):123-8. doi:10.1007/s10038-006-0091-4
  • 17 Aring E, Ekström AB, Tulinius M, Sjöström A. Ocular motor function in relation to gross motor function in congenital and childhood myotonic dystrophy type 1. Acta Ophthalmol. 2012;90(4):369-74. doi:10.1111/j.1755-3768.2010.01956.x
  • 18 Rosa N, Lanza M, Borrelli M, Palladino A, Di Gregorio MG, Politano L. Intraocular pressure and corneal biomechanical properties in patients with myotonic dystrophy. Ophthalmology 2009;116(2):231-34. doi:10.1016/j.ophtha.2008.09.001
  • 19 Bollinger KE, Kattouf V, Arthur B, Weiss AH, Kivlin J, Kerr N et al. Hypermetropia and esotropia in myotonic dystrophy. J AAPOS. 2008;12(1):69-71. doi:10.1016/j.jaapos.2007.08.005
  • 20 Bicas HEA, Almeida HC. Funções visuais binoculares. In: Bicas HEA, Souza-Dias CR, Almeida HC, editors. Estrabismo. Rio de Janeiro: Guanabara Koogan; 2008. p. 97. (Série Oftalmologia Brasileira).
  • 21 Dadeya S, Kamlesh, Shibal F. The effect of anisometropia on binocular visual function. Indian J Ophthalmol. 2001;49(4):261-3.
  • 22 Loba P, Rajska K, Simiera J, Wilczynski M, Omulecki W, Broniarczyk-Loba A. The influence of a prolonged interoperative period on binocular vision after bilateral cataract extractions. Eur J Ophthalmol. 2015;25(4):315-9. doi:10.5301/ejo.5000569
  • 23 Manoranjan A, Shrestha S, Shrestha S. Effect of bilateral age-related cataract on stereoacuity. Strabismus. 2013;21(2):116-22. doi:10.3109/09273972.2013.786747