Abstract
A wide range of ocular abnormalities have been documented to occur in patients with myotonic dystrophy type 1. The objectives of this study were to investigate the macular and optic nerve morphology using optical coherence tomography in patients with myotonic dystrophy type 1. A total of 30 myotonic dystrophy type 1 patients and 28 controls were recruited for participation. All participants underwent a thorough ophthalmologic examination, including spectral-domain optical coherence tomography of the macula and retinal nerve fibre layer. Images were reviewed by a retinal specialist ophthalmologist, masked to the diagnosis of the participants. Average macular thickness was significantly greater in the myotonic dystrophy group compared to controls [327.3 μm vs. 308.5 μm (p < 0.001)]. Macular thickness was significantly greater (p < 0.005) in five of the nine macular regions. The increase in macular thickness was due to the increased prevalence of epiretinal membranes in the myotonic dystrophy patient group (p = 0.0002): 48.2 % of myotonic dystrophy patient eyes had evidence of epiretinal membrane, compared with 12.5 % of control eyes. Examination revealed that 56.7 % of myotonic dystrophy patients had an epiretinal membrane in at least one eye. Visual acuity was reduced due to the presence of epiretinal membrane in six patient eyes and none of the control eyes. The presence of an epiretinal membrane was significantly correlated with increasing age in the patient group. We report an increased prevalence of epiretinal membrane in the myotonic dystrophy type 1 group. This may be a previously under-recognised form of visual impairment in this group. Epiretinal membranes can be treated surgically. We suggest that, in addition to a comprehensive clinical examination, optical coherence tomography examination is implemented as part of an ophthalmological assessment for the myotonic dystrophy type 1 patient with reduced visual acuity.
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Ranum LP, Day JW (2004) Myotonic dystrophy: RNA pathogenesis comes into focus. Am J Hum Genet 74(5):793–804
Harper PS (1989) Myotonic dystrophy, 2nd edn. WB Saunders, London
Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H et al (1992) Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 69(2):385
Rosa N, Lanza M, Borrelli M, De Bernardo M, Palladino A, Di Gregorio MG et al (2011) Low intraocular pressure resulting from ciliary body detachment in patients with myotonic dystrophy. Ophthalmology 118(2):260–264
Rosa N, Lanza M, Borrelli M, Palladino A, Di Gregorio MG, Politano L (2009) Intraocular pressure and corneal biomechanical properties in patients with myotonic dystrophy. Ophthalmology 116(2):231–234
Sarks J, Penfold P, Liu H, Sarks S, Killingsworth M, Horowitz G (1985) Retinal changes in myotonic dystrophy: a clinicomorphological study. Aust N Z J Ophthalmol 13(1):19–36
Verhagen WI, Huygen PL (1997) Abnormalities of ocular motility in myotonic dystrophy. Brain 120(Pt 10):1907–1909
Walker SD, Brubaker RF, Nagataki S (1982) Hypotony and aqueous humor dynamics in myotonic dystrophy. Invest Ophthalmol Vis Sci 22(6):744–751
Wong VA, Beckingsale PS, Oley CA, Sullivan TJ (2002) Management of myogenic ptosis. Ophthalmology 109(5):1023–1031
Eshaghian J, March WF, Goossens W, Rafferty NS (1978) Ultrastructure of cataract in myotonic dystrophy. Invest Ophthalmol Vis Sci 17(3):289–293
Hayasaka S, Kiyosawa M, Katsumata S, Honda M, Takase S, Mizuno K (1984) Ciliary and retinal changes in myotonic dystrophy. Arch Ophthalmol 102(1):88–93
Kimizuka Y, Kiyosawa M, Tamai M, Takase S (1993) Retinal changes in myotonic dystrophy: clinical and follow-up evaluation. Retina 13(2):129–135
Bollen E, den Heyer JC, Tolsma MH, Bellari S, Bos JE, Wintzen AR (1992) Eye movements in myotonic dystrophy. Brain 115(Pt 2):445–450
Huang D, Swanson EA, Lin CP, Schuman JS, Stinson WG, Chang W et al (1991) Optical coherence tomography. Science 254(5035):1178–1181
Schara U, Schoser BGH (2006) Myotonic dystrophies type 1 and 2: a summary on current aspects. Semin Pediatr Neurol 13(2):71–79
Kierkegaard M, Tollback A (2007) Reliability and feasibility of the six minute walk test in subjects with myotonic dystrophy. Neuromuscul Disord 17(11–12):943–949
Mathieu J, Boivin H, Meunier D, Gaudreault M, Begin P (2001) Assessment of a disease-specific muscular impairment rating scale in myotonic dystrophy. Neurology 56(3):336–340
Hunter A, Tsilfidis C, Mettler G, Jacob P, Mahadevan M, Surh L et al (1992) The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy. J Med Genet 29(11):774–779
Groh WJ, Groh MR, Shen CY, Monckton DG, Bodkin CL, Pascuzzi RM (2011) Survival and CTG repeat expansion in adults with myotonic dystrophy type 1. Muscle Nerve 43(5):648–651
Milani P, Raimondi G, Morale D, Scialdone A (2012) Biomicroscopy versus optical coherence tomography screening of epiretinal membranes in patients undergoing cataract surgery. Retina 32(5):897–904
Ng CH, Cheung N, Wang JJ, Islam AFM, Kawasaki R, Meuer SM et al (2011) Prevalence and risk factors for epiretinal membranes in a multi-ethnic United States population. Ophthalmology 118(4):694–699
McLeod D, Hiscott PS, Grierson I (1987) Age-related cellular proliferation at the vitreoretinal juncture. Eye 1(Pt 2):263–281
Mitchell P, Smith W, Chey T, Jie Jin W, Chang A (1997) Prevalence and associations of epiretinal membranes: the Blue Mountains eye study, Australia. Ophthalmology 104(6):1033–1040
Koh V, Cheung CY, Wong W-L, Cheung C-M, Wang JJ, Mitchell P et al (2012) Prevalence and risk factors of epiretinal membrane in Asian Indians. Invest Ophthalmol Vis Sci 53(2):1018–1022
Foos RY (1974) Vitreoretinal juncture: simple epiretinal membranes. Graefes Arch Clin Exp Ophthalmol 189(4):231–250
Bringmann A, Wiedemann P (2009) Involvement of muller glial cells in epiretinal membrane formation. Graefes Arch Clin Exp Ophthalmol 247(7):865–883
Chang L, Ernst T, Osborn D, Seltzer W, Leonido-Yee M, Poland RE (1998) Proton spectroscopy in myotonic dystrophy: correlations with CTG repeats. Arch Neurol 55(3):305–311
Yoshimura N, Otake M, Igarashi K, Matsunaga M, Takebe K, Kudo H (1990) Topography of Alzheimer’s neurofibrillary change distribution in myotonic dystrophy. Clin Neuropathol 9(5):234–239
Hernandez–Hernandez O, Guiraud-Dogan C, Sicot G, Huguet A, Luilier S, Steidl E et al (2013) Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour. Brain 136(Pt 3):957–970
Tian M, Xu CS, Montpetit R, Kramer RH (2012) Rab3A mediates vesicle delivery at photoreceptor ribbon synapses. J Neurosci 32(20):6931–6936
Michels RG (1981) Vitreous surgery for macular pucker. Am J Ophthalmol 92(5):628–639
Ghazi-Nouri SMS, Tranos PG, Rubin GS, Adams ZC, Charteris DG (2006) Visual function and quality of life following vitrectomy and epiretinal membrane peel surgery. Br J Ophthalmol 90(5):559–562
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Kersten, H.M., Roxburgh, R.H., Child, N. et al. Epiretinal membrane: a treatable cause of visual disability in myotonic dystrophy type 1. J Neurol 261, 37–44 (2014). https://doi.org/10.1007/s00415-013-7141-6
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DOI: https://doi.org/10.1007/s00415-013-7141-6