Advertisement

Documenta Ophthalmologica

, Volume 129, Issue 3, pp 191–202 | Cite as

Ten-year follow-up of two unrelated patients with Müller cell sheen dystrophy and first report of successful vitrectomy

  • Agnes B. Renner
  • Viola Radeck
  • Ulrich Kellner
  • Herbert Jägle
  • Horst Helbig
Original Research Article

Abstract

Purpose

To describe clinical characteristics of Müller cell sheen dystrophy (MCSD) in two unrelated patients followed for 10 years.

Methods

Best-corrected visual acuity (BCVA), kinetic perimetry, biomicroscopy, ophthalmoscopy, fundus photography, fluorescein angiography, fundus autofluorescence, near-infrared reflectance, optical coherence tomography (OCT), and electroretinography (ERG).

Results

Case 1: A 61-year-old woman showed internal limiting membrane (ILM) folds at the posterior pole (OU), and cystoid macular edema (CME) in OD. During follow-up, BCVA decreased from 0.2 to 0.06 (OD) and from 0.7 to hand movements (OS). Fundus presented fluctuant CME and subretinal fluid, and an increase in ILM folds and intraretinal schisis cavities. ERG was negative in OD and initially normal in OS. Case 2: A 60-year-old man was first diagnosed with epiretinal membrane before MCSD with ILM folds was detected. OCT showed schisis cavities in all retinal layers. After vitrectomy with ILM peeling in OD because of visual loss and massive CME, BCVA recovered from 0.05 to 0.4. BCVA in OS remained at 0.6. OD developed negative ERG.

Conclusions

MCSD presents with late onset, ILM folds, intraretinal schisis cavities, and negative ERG. Visual loss is accompanied by CME and subretinal fluid. Vitrectomy with ILM peeling led to BCVA increase and anatomic improvement.

Keywords

Cystoid macular edema Internal limiting membrane Müller cell sheen dystrophy Negative electroretinogram Optical coherence tomography Pars plana vitrectomy 

References

  1. 1.
    Dalma A et al. (1991) Invest Ophthalmol Vis Sci 32. ARVO Abstract 2738Google Scholar
  2. 2.
    Polk TD, Gass JDM, Green WR, Novak MA, Johnson MW (1997) Familial internal limiting membrane dystrophy. A new sheen retinal dystrophy. Arch Ophthalmol 115:878–885PubMedCrossRefGoogle Scholar
  3. 3.
    Kellner U, Kraus H, Heimann H, Helbig H, Bornfeld N, Foerster M (1998) Electrophysiological evaluation of visual loss in Müller cell sheen dystrophy. Br J Ophthalmol 82:650–654PubMedCentralPubMedCrossRefGoogle Scholar
  4. 4.
    Franco-Cardenas V et al. (2013) Invest Ophthalmol Vis Sci 54. ARVO E-Abstract 5921Google Scholar
  5. 5.
    Renner AB, Tillack H, Kraus H, Kohl S, Wissinger B, Mohr N, Weber BHF, Kellner U, Foerster M (2004) Morphology and functional characteristics in adult vitelliform macular dystrophy. Retina 24:929–939PubMedCrossRefGoogle Scholar
  6. 6.
    Renner AB, Walter A, Fiebig BS, Jägle H (2012) Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation. Doc Ophthalmol 125:81–89PubMedCrossRefGoogle Scholar
  7. 7.
    Marmor MF, Fulton AB, Holder GE, Miyake Y, Brigell M, Bach M (2009) ISCEV Standard for full-field clinical electroretinography (2008 update). Doc Ophthalmol 118:69–77PubMedCrossRefGoogle Scholar
  8. 8.
    Fishman GA, Gilbert LD, Fiscella RG, Kimura AE, Jampol LM (1989) Acetazolamide for treatment of chronic macular edema in retinitis pigmentosa. Arch Ophthalmol 107:1445–1452PubMedCrossRefGoogle Scholar
  9. 9.
    Grover S, Fishman GA, Fiscella RG, Adelman AE (1997) Efficacy of dorzolamide hydrochloride in the management of chronic cystoid macular edema in patients with retinitis pigmentosa. Retina 17:222–231PubMedCrossRefGoogle Scholar
  10. 10.
    Reichenbach A, Bringmann A (2013) New functions of Müller cells. Glia 61:651–678PubMedCrossRefGoogle Scholar
  11. 11.
    Shen W, Fruttiger M, Zhu L, Chung SH, Barnett NL, Kirk JK, Lee S, Coorey NJ, Killingsworth M, Sherman LS, Gillies MC (2012) Conditional Müller cell ablation causes independent neuronal and vascular pathologies in a novel transgenic model. J Neurosci 32:15715–15727PubMedCentralPubMedCrossRefGoogle Scholar
  12. 12.
    Tout S, Chan-Ling T, Hollander H, Stone J (1993) The role of Müller cells in the formation of the blood-retinal barrier. Neuroscience 55:291–301PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Agnes B. Renner
    • 1
    • 2
  • Viola Radeck
    • 1
  • Ulrich Kellner
    • 2
    • 3
    • 4
  • Herbert Jägle
    • 1
  • Horst Helbig
    • 1
    • 2
  1. 1.Klinik und Poliklinik für AugenheilkundeUniversitätsklinikum RegensburgRegensburgGermany
  2. 2.Klinik und Poliklinik für AugenheilkundeCharité Universitätsmedizin Berlin, Campus Benjamin FranklinBerlinGermany
  3. 3.RetinaScienceBonnGermany
  4. 4.Zentrum für seltene NetzhauterkrankungenAugenZentrum Siegburg, MVZ ADTC Siegburg GmbHSiegburgGermany

Personalised recommendations