Retinitis Pigmentosa Mimicking Uveitis. A Case Report


Authors: E. Szabó;  M. Brichová;  P. Lišková;  P. Svozílková;  E. Říhová
Authors‘ workplace: Oční klinika, 1. lékařská fakulta, Univerzita Karlova v Praze a Všeobecná fakultní nemocnice v Praze, přednosta doc. MUDr. Bohdana Kalvodová, CSc.
Published in: Čes. a slov. Oftal., 69, 2013, No. 1, p. 32-36
Category: Case Report

Overview

Purpose:
To describe a case report of a 23-year-old patient with retinitis pigmentosa (RP) misdiagnosed as uveitis.

Methods:
A comprehensive eye examination including automated visual field assessment, contrast sensitivity, colour vision discrimination, ultrasound examination (US), spectral domain optical coherence tomography (SD-OCT) and full-field electroretinography (ERG) was performed in a patient diagnosed elsewhere as having intermediate uveitis because of the observation of a cellular reaction in the anterior chamber, bilateral cystoid macular oedema and suspected left optic disc swelling.

Results:
The patient reported nyctalopia. The best corrected visual acuity in both eyes was 6/12. Concentric visual field constriction was detected bilaterally (less than 25 degrees in the right eye and 15 degrees in the left eye). Fundus examination revealed a few pigment clumps and cystoid macular edema in both eyes confirmed by SD-OCT. Contrast sensitivity was decreased to 1,20 in the right and 0,9 in the left. No colour vision disturbance was present. The B scan ultrasound showed left optic disc drusen. Rod ERG responses were bilaterally not detectable and cone ERGs were abnormally reduced. Based on the examination results, a diagnosis of nonsyndromic RP was made.

Conclusion:
Clinicians should be aware of various manifestations of RP, including mild inflammation, to avoid possible confusin with uveitis.

Key words:
benign masquerade syndrome, retinitis pigmentosa


Sources

1. Baklouti, K., Mghaieth, F., Mhiri, N. et al.: Iridocyclitis in a patient with Behćet's disease and a familial form of retinitis pigmentosa. J Fr Ophtalmol. 2007 Oct; 30(8): e25.

2. Bansal, S., Saha, N., Woon, WH.: The management of "coats' response" in a patient with x-linked retinitis pigmentosa-a case report. ISRN Surg. 2011; 2011: 970361. Epub 2011 Apr 20.

3. Barry, MP., Dagnelie, G.: Use of the Argus II Retinal Prosthesis to Improve Visual Guidance of Fine Hand Movements. Invest Ophthalmol Vis Sci. 2012 Jun 1.

4. Berson, EL., Rosner, B., Sandberg MA. et al.: Further evaluation of docosahexaenoic acid in patients with retinitis pigmentosa receiving vitamin A treatment: subgroup analyses. Arch Ophthalmol. 2004 Sep; 122(9): 1306-1314.

5. Berson, EL., Rosner, B., Sandberg, MA. et al.: A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa. Arch Ophthalmol. 1993; 111(6): 761–772.

6. Berson, EL., Rosner, B., Sandberg, MA. et al.: Clinical trial of docosahexaenoic acid in patients with retinitis pigmentosa receiving vitamin A treatment. Arch Ophthalmol. 2004; 122(9): 1297–1305.

7. Berson, EL., Rosner, B., Sandberg, MA. et al.: Clinical trial of lutein in patients with retinitis pigmentosa receiving vitamin A. Arch Ophthalmol. 2010; 128(4): 403–411.

8. Besch, D., Sachs, H., Szurman, P., et al.: Extraocular surgery for implantation of an active subretinal visual prosthesis with externalconnections: feasibility and outcome in seven patients. Br J Ophthalmol. 2008 Oct; 92 (10): 1361–8. Epub 2008 Jul 28.

9. Hamel, C.: Retinitis pigmentosa, Orphanet J Rare Dis. 2006 Oct 11; 1: 40.

10. Hamel, CP.: Cone rod dystrophies. Orphanet J Rare Dis. 2007 Feb 1; 2: 7.

11. Heidemann, DG., Beck, RW.: Retinitis pigmentosa. A mimic of neurologic disease. Surv Ophthalmol. 1987 Jul-Aug; 32(1): 45–51.

12. Kanski, J. J.: "Clinical Ophthalmology: A Systematic Approach", Butteworth-Heinemann 2007, s 150–155, ISBN 978070-2040931.

13. Kubicka-Trzaska, A., Romanowska-Dixon, B.: Non-malignant uveitis masquerade syndromes. Klin Oczna. 2008; 110 (4–6): 203–6.

14. Kuchynka, P. et al.: Oční lékařství, Grada Publishing, a.s., 2007, s. 279-281, SBN 978-80-247-1163-8.

15. L I van den Born, M J van Schooneveld, P T de Jong et al.: Fuchs' heterochromic uveitis associated with retinitis pigmentosa in a father and son. Br J Ophthalmol. 1994 June; 78(6): 504–505.

16. Liang, FQ., Aleman, TS., Dejneka, NS., et al.: Long-term protection of retinal structure but not function using RAAV. CNTF in animal models of retinitis pigmentosa. Mol Ther. 2001 Nov; 4(5): 461–72.

17. Lichtinger, A., Chowers, I., Amer, R.: Usher syndrome associated with Fuchs' heterochromic uveitis. Graefes Arch Clin Exp Ophthalmol. 2010 Oct; 248(10): 1481–5. Epub 2010 Jun 24.

18. Marmor, MF.: A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa [reply letter]. Arch Ophthalmol. 1993; 111(11): 1460–1461.

19. Musarella, A. M., MacDonald, I. M.: Current Concepts in the Treatment of Retinitis Pigmentosa. J Ophthalmol. 2011; 2011: 753547. Epub 2010 Oct 11.

20. Nagpal, A., Biswas J.: Pseudouveitis - analysis of cases misdiagnosed as posterior uveitis. Ocul Immunol Inflamm. 2006 Feb; 14(1): 13–20.

21. Norton, EWD.: A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa [letter to the editor]. Arch Ophthalmol. 1993;111(11): 1460.

22. Nussenblatt, R.B., Whitcup, S.M., Palestine, A.G.: Masquerade syndromes. In: Uveitis: Fundamentals and clinical practice. Mosby-Year Book, Inc., St. Louis, 1996: 385–395.

23. Otradovec, J.: Klinická neurooftalmologie, Grada Publishing, a.s., 2003, s. 159-164, ISBN: 80-247-0280-0.

24. Říhová, E. et al.: Uveitidy, Grada Publishing, a.s., 2009, s. 102-105, ISBN 978-80-247-2897-1.

25. Tan, MH., Smith, AJ., Pawlyk, B. et al.: Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: Effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors. Hum Mol Genet. 2009 Jun 15; 18 (12): 2099-114. Epud 2009 Mar 19.

26. Willermain, F., Greiner, K., Forrester, JV.: Atypical end-stage birdshot retinochoroidopathy. Ocul Immunol Inflamm. 2003 Dec; 11(4): 305–7.

Labels
Ophthalmology
Login
Forgotten password

Don‘t have an account?  Create new account

Forgotten password

Enter the email address that you registered with. We will send you instructions on how to set a new password.

Login

Don‘t have an account?  Create new account