Skip to main content

Advertisement

SpringerLink
Log in

A 43-year-old man with reduced visual acuity and normal fundus: occult macular dystrophy—case report

  • Original Research Paper
  • Published:
Documenta Ophthalmologica Aims and scope Submit manuscript

Abstract

Purpose Occult macular dystrophy (OMD) is an unusual, inherited macular dystrophy characterized by a slowly progressive decline of visual acuity with normal fundus and fluorescein angiography (FA). The authors present a 43-year-old man who was diagnosed as having OMD because of the results of electrophysiological, psychophysical, optical coherence tomography (OCT) tests. Methods Routine ophthalmological evaluation, FA, visual field tests, electroretinographic examinations (EOG, ERG, PERG and mfERG recordings according to ISCEV standards) and foveal thickness measurements (OCT) were performed. Results Funduscopic examinations, FA, full field ERG as well as PERG results were all normal. In both eyes, the abnormalities were observed in static perimetry (relative central scotomas), mfERG (significant reduction of P1 amplitude in the central retinas) and OCT (significantly thinner foveal thickness). Conclusions A new case with OMD is added to preceding reports. The mfERG and OCT tests are important in detection of OMD patients. It can help in differential diagnosis of amblyopia, optic nerve diseases and non-organic visual disorders.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5

Similar content being viewed by others

References

  1. Miyake Y, Ichikawa K, Shiose Y, Kawase Y (1989) Hereditary macular dystrophy without visible fundus abnormality. Am J Ophthalmol 108:292–299

    PubMed  CAS  Google Scholar 

  2. Miyake Y, Horiguchi M, Tomita N, Kondo M, Tanikawa A, Takahashi H et al (1996) Occult macular dystrophy. Am J Ophthalmol 122:644–653

    PubMed  CAS  Google Scholar 

  3. Miyake Y (2006) Occult macular dystrophy. In: Electrodiagnosis of retinal diseases. Springer-Verlag, Tokyo

  4. Piao Ch, Kondo M, Tanikawa A, Terasaki H, Miyake Y (2000) Multifocal electroretinogram in occult macular dystrophy. Invest Ophthalmol Vis Sci 41:513–517

    PubMed  CAS  Google Scholar 

  5. Matthews GP, Sandberg MA, Berson EL (1992) Foveal cone electroretinograms in patients with central visual loss of unexplained etiology. Arch Ophthalmol 110:1568–1570

    PubMed  CAS  Google Scholar 

  6. Kondo M, Ueno S, Piao Ch, Ito Y, Terasaki H, Miyake Y (2004) Occult macular dystrophy in an 11 year old boy. Br J Ophthalmol 88:1602–1603

    Article  PubMed  CAS  Google Scholar 

  7. Fujii S, Escano MFT, Ishibashi K, Matsuo H, Yamamoto M (1999) Multifocal electroretinography in patients with occult macular dystrophy. Br J Ophthalmol 83:879–880 (letters)

    Article  PubMed  CAS  Google Scholar 

  8. Lyons JS (2005) Non-familial occult macular dystrophy. Doc Ophthalmol 111:49–56

    Article  PubMed  Google Scholar 

  9. Nakamura M, Kanamori A, Maeda H, Negi A (2003) A case of occult macular dystrophy accompanying normal tension glaucoma. Am J Ophthalmol 135:715–717

    Article  PubMed  Google Scholar 

  10. Wilderberger H, Niemeyer G, Junghardt A (2003) Multifocal electroretinogram (mfERG) in a family with occult macular dystrophy (OMD). Klin Monatsbl Augenheilkd 220:111–115

    Article  Google Scholar 

  11. Kondo M, Ito Y, Ueno S, Piao Ch, Terasaki H, Miyake Y (2003) Foveal thickness in occult macular dystrophy. Am J Ophthalmol 135:725–728

    Article  PubMed  Google Scholar 

  12. Brockhurst RJ, Sandberg MA (2007) Optical coherence tomography findings in occult macular dystrophy. Am J Ophthalmol 143: 516–518

    Article  PubMed  Google Scholar 

  13. Brown M et al (2006) ISCEV Standard for Clinical Electro-oculography (EOG) (2006). Doc Ophthalmol 113:205–212

    Article  PubMed  Google Scholar 

  14. Marmor MF, Holder GE, Seelinger MW, Yamamoto S (2004 Update) Standard for clinical electroretinography. Doc Ophthalmol 108:107–114

    Google Scholar 

  15. Bach M et al (2000) Standard for pattern electroretinography. Doc Ophthalmol 101:35–49

    Article  Google Scholar 

  16. Holder GE et al (2007) ISCEV standard for clinical pattern electroretinography – 2007 update. Doc Ophthalmol 114:111–116

    Article  PubMed  Google Scholar 

  17. Marmor MF et al (2003) Guidelines for Basic Multifocal Electroretinography (mfERG). Doc Ophthalmol 106:105–115

    Article  PubMed  Google Scholar 

  18. Kondo M, Miyake Y, Kondo N, Ueno S, Takakuwa H, Terasaki H (2004) Peripheral cone dystrophy: a variant of cone dystrophy with predominant dysfunction in the peripheral cone system. Ophthalmology 111:732–739

    Article  PubMed  Google Scholar 

  19. Ohba N (1974) Progressive cone dystrophy: for cases of unusual form. Jpn J Ophthalmol 18:50–69

    Google Scholar 

  20. Kellner V, Jandeck C, Uvaus H, Foerster MH (1998) Hereditäre Makuladystrophien. Ophthalmologe 95(9):597–601

    Article  PubMed  CAS  Google Scholar 

  21. Hood DC, Odel JG, Chen CS, Winn BJ (2003) The multifocal electroretinogram. J Neuro-Ophthalmol 23:225–235

    Article  Google Scholar 

  22. Lois N, Holder GE, Bunce C, Fitzke FW, Bird AC (2001) Phenotypic subtypes of Stargardt macular dystrophy – fundus flavimaculatus. Arch Ophthalmol 119:359–369

    PubMed  CAS  Google Scholar 

  23. Berminger T, Schuurmans RP (1985) Spatial tuning of the pattern ERG across temporal frequency. Doc Ophthalmol 61:17–25

    Article  Google Scholar 

Download references

Acknowledgement

The authors thank Mrs. L. Rekowska for her help with recordings and data acquisition.

Author information

Authors and Affiliations

  1. Department of Ophthalmology, Pomeranian Medical University, Powstańców Wlkp. 72 str., 70-111, Szczecin, Poland

    Wojciech Lubiński, Wojciech Gosławski, Monika Drobek-Słowik & Danuta Karczewicz

  2. Institute of Electronics, Telecommunications and Computer Science, Szczecin University of Technology, Szczecin, Poland

    Krzysztof Penkala

Authors
  1. Wojciech Lubiński
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Wojciech Gosławski
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Krzysztof Penkala
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Monika Drobek-Słowik
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Danuta Karczewicz
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Wojciech Lubiński.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Lubiński, W., Gosławski, W., Penkala, K. et al. A 43-year-old man with reduced visual acuity and normal fundus: occult macular dystrophy—case report. Doc Ophthalmol 116, 111–118 (2008). https://doi.org/10.1007/s10633-007-9086-5

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10633-007-9086-5

Keywords

Search

Navigation