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CASE REPORT
Year : 2015  |  Volume : 3  |  Issue : 1  |  Page : 19-23

Any possible association between Behcet's disease and retinitis pigmentosa


Department of Medical Ophthalmology and Uvietis, Makkah Eye Complex, Sudan Eye Center, Khartoum, Sudan

Date of Web Publication10-Nov-2015

Correspondence Address:
A H Hassan
Makkah Eye Complex, Khartoum
Sudan
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DOI: 10.4103/1858-6538.169306

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  Abstract 

Behçet's disease is a rare multisystem disease; it has many ocular features, and it is not known to be associated with dystrophic conditions such as retinitis pigmentosa (RP). This is a case report of a Sudanese patient with Behçet's disease with ocular features and RP. A 28-year-old female with nyctalopia, skin hyper-pigmentation, and oral and genital ulcers was diagnosed as RP with Behçet's disease. She received a high dose of steroids and Azathioprine. She developed bilateral cataract and glaucoma. Pathergy test is negative. The patient is fulfilling the diagnostic criteria of both RP and Behçet's diseases. Behçet's disease is a rare condition; it is not common among Sudanese patients, and it has not been known to co-exist with RP.

Keywords: Behçet's disease; retinitis pigmentosa; Sudan


How to cite this article:
Hassan A H, Dirar HH, Ibrahim S M, Mudaw T M. Any possible association between Behcet's disease and retinitis pigmentosa. Albasar Int J Ophthalmol 2015;3:19-23

How to cite this URL:
Hassan A H, Dirar HH, Ibrahim S M, Mudaw T M. Any possible association between Behcet's disease and retinitis pigmentosa. Albasar Int J Ophthalmol [serial online] 2015 [cited 2019 Apr 22];3:19-23. Available from: http://www.bijojournal.org/text.asp?2015/3/1/19/169306


  Introduction Top


Behçet's disease is a multisystem disorder characterized by recurrent oral aphthous ulcers, skin lesions, genital ulcers, and ocular lesions. The disease often leads to blindness in severely affected individuals. It is most prevalent between the second and fourth decades of life. Behçet's disease is found predominantly between East Asia and the Mediterranean basin. It is uncommon in the American continents, Oceania, and sub-Saharan Africa.

Distribution of uveitis and intraocular inflammation may differ in different regions of the world. In Japan, Behçet's disease is one of the three most frequent diagnoses in patients with uveitis. The highest prevalence rate of the disease has been reported from Turkey.

This disease is strongly associated with the major histo-compatibility complex antigen human leukocyte antigen (HLA)-B51, first reported in 1973. Population with high prevalence of HLA-B51 lies predominantly north of the equator, spanning Japan, and Western Europe between 30° and 45° N.

The frequency of ocular involvement in patients is thought to be between 50% and 70%.[1] The characteristic ocular feature is a relapsing uveitis, which may involve anterior segment, posterior segment, or both. Classification of patient's uveitis is important both therapeutically and prognostically because those lesions that affect posterior part of the eye tend to be persistent and blinding. The disease may be more severe in men than in women.

Diagnostic criteria

  • Painful aphthous oral ulceration that has recurred at least three times in a 12-month period.


Plus at least two of the following:

  • Recurrent genital ulceration
  • Uveitis
  • Skin lesions include erythema nodosum, folliculitis, acneform nodules, or papulopustular lesions [Figure 1]
  • Positive pathergy test.


Retinitis pigmentosa (RP) belongs to the group of pigmentary retinopathies, a generic name that covers all retinal dystrophies presented with a loss of photoreceptors and retinal pigment deposits. RP is a retinal degenerative disease characterized by pigment deposits predominant in the peripheral retina and by a relative sparing of the central retina.
Figure 1: Photograph of the patient showing external features

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In most of the cases of RP, there is a primary degeneration of the rods photoreceptors, with secondary degeneration of cones. Thus, the typical RP is also described as a rod-cone dystrophy, which rods being more affected than cones. This sequence of photoreceptors involvement explains why patients initially present with night blindness and only in the later life would suffer visual impairment in diurnal conditions.

Diagnostic criteria

Functional signs

Night blindness (nyctalopia) is the earliest symptom

Photophobia appears later

  • The visual acuity is preserved in early and mid-stages.


Visual field

  • Patchy losses of peripheral vision evolving to ring shape scotoma, and eventually tunnel vision.


Fundus

Pigmentary deposits resembling bone spicules, initially in peripheral retina

Attenuation of the retinal vessels

Waxy pallor of the optic disc

  • Various degrees of retinal atrophy.


Electroretinogram

Dramatic diminution in a- and b-wave's amplitudes

  • Scotopic system (rods) predominates over photopic (cones) system.



  Literature Review Top


In 2007, Baklouti K, Mghaieth F, Mhiri N, Ayachi M and El Matri L reported a case of Iridocyclitis in a patient with Behçet's disease and a familial form of RP, the patient was a 55-year-old woman with a history of Behçet's disease presented with acute red and painful eyes and moderately blurred vision. Ophthalmologic examination concluded in bilateral acute hypertensive uveitis. Fundoscopy and fundus fluorescein angiogram showed RP.[2]

Regarding the clinical features of Behçet's disease, a study from Jordan done by Al-Aboosi et al., reviewed 20 patients to determine the clinical patterns in northern Jordan and compare them with other countries. Of the 20 patients, 14 were men and 6 women, giving a ratio of 2.3:1. Their ages ranged from 14 to 58 years. All had mouth ulcers, 65% genital ulcers, 65% ocular involvement, 55% joint involvement, 35% skin lesions, 20% vascular lesions, and 5% gastrointestinal involvement. The oral ulcers were the first manifestation of the disease process in 70% of the patients. Skin lesions, genital ulcers, and involvement of the central nervous system and the pulmonary system were less frequent.[3]

Another study from China done by Yang P, Fang W, Meng Q, Ren Y, Xing L, and Kijlstra A aimed at determining the clinical features of Behçet's disease in Chinese patients, four hundred thirty-seven patients were diagnosed with Behçet's disease. There were 319 male and 118 female patients. Panuveitis was the most common type of uveitis in both genders, although anterior uveitis was seen more frequently in females. Retinal vasculitis, vitritis, and retinitis were the most common ocular manifestations in these patients. Cataract and macular edema were the most common complications. Oral ulcers were the most frequent extraocular manifestation, followed by dermatologic lesions and genital ulcers.[4]

RP is known to occur as part of a syndrome association; Christian Hamel has written a review about RP in 2006 and has mentioned the following associations of it:[5]

Frequent syndromes: Usher Syndrome, Bardet Biedl syndrome, Senior Loken syndrome, Alport syndrome, Cohen syndrome, Jeune syndrome, and Cockayne syndrome

Metabolic diseases: Methylmalonic aciduria with homocystinuria, Abetalipoproteinemia (Bassen Kornzweig disease), Bietti's disease, Cystinosis, Mucopolysaccharidosis, Zellweger syndrome, Hyperoxaluria type I with retinal atrophy in spots, Neonatal adrenoleukodystrophy with leopard spots in fundus and Refsum disease

  • Neurological diseases: Neuronal ceroid lipofuscinosis, Joubert syndrome (JBTS), Autosomal dominant cerebellar ataxia type II (SCA7), Myotonic dystrophy, and Hallervorden-Spatz syndrome.


No reports of association of RP and Behçet's disease were found in the literature.


  Case Report Top


Demographic data

  • Age: 28 years
  • Sex: Female
  • Residence: Omdurman.


Presenting complaints

  • Inability to see at night: 15 years
  • Skin discoloration: 13 years
  • Mouth and genital ulcers: 2 years.


History of the presenting complaints

  • The condition started 15 years ago with inability to see at night, which was slowly progressing
  • The condition was associated with inability to read small fonts
  • The patient sought medical help and was diagnosed as RP
  • Two years later, the patient started to develop generalized skin darkening that was also slowly progressive
  • Her condition had been diagnosed first as SLE and started Prednisolone 40 mg tablets daily
  • The diagnosis of RP was confirmed
  • There was no improvement, and she became completely blind
  • Two years ago, she developed mouth and genital ulcers, when she was taken to a rheumatologist who changed the diagnosis to RP with Behçet's disease and added Azathioprine to her medications
  • Until this stage, the patient was not on regular follow up with an ophthalmologist, became completely blind, and developed bilateral cataract and glaucom.


Systemic review

Unremarkable.

Past medical and surgical history

Unremarkable.

Past ophthalmic history

  • No history of eye surgery or trauma
  • No history of refractive error.


Social history

  • Despite the long struggle with her illness, the patient managed to complete her university education.
  • She is the oldest among five children
  • Her father had passed away
  • Poor socioeconomic class.


Family history

  • No family history of a similar condition
  • No family history of long term illnesses.


Medications

  • Prednisolone tablets 40 mg daily
  • Azathioprine tablets.



  Summary Top


A 28-year-old female with nyctalopia, skin hyper-pigmentation, oral and genital ulcers has been diagnosed as RP with Behçet's disease; she is on treatment and her condition is static.

The Summary of ophthalmic examination of our patient was summarized in [Table 1].
Table 1: Summary of ophthalmic examination

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  Discussion Top


Behçet's disease is uncommon in Sudan. It is found predominantly between East Asia and Mediterranean Basin, especially in Turkey. In this report, we found that the patient has RP associated with Behçet's disease. She was using systemic steroids for long time without any ophthalmic follow up until she became completely blind. Although she is highly educated, she was not concerned about her progressive visual loss. She has mature cataract on her left eye. A-B scan of the left eye showed vitreous opacities [Figure 2]. Right eye showed chorioretinal atrophic changes, RP signs and full optic Disc cupping on the Fundus photography [Figure 3], Fluorescein angiography in [Figure 4] and the optical coherence tomography [Figure 5]. Her blood investigations showed low hemoglobin and slight C-reactive protein increase [Figure 6].
Figure 2: A-B scan of the left eye

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Figure 3: Fundus photography of the right eye

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Figure 4: Fundus fluorescein angiography of the right eye (15 s)

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Figure 5: Optical coherence tomography of the right eye

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Figure 6: Blood investigations

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Here, we are reporting a case with Behçet's disease and RP; we found only one similar case report with the same association between these two diseases, which was a case of iridocyclitis in a patient with Behçet's disease and RP reported from France in 2007.[2] We hope that this might draw the attention to a possible association between the two diseases and generate more research in this field.


  Conclusion Top


Behçet's disease is uncommon disease among Sudanese patients, and it has not been known to co-exist with RP worldwide. So, it needs more researches and case reports to focus on their association.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Kitaichi N, Miyazaki A, Iwata D, Ohno S, Stanford MR, Chams H. Ocular features of Behcet's disease: An international collaborative study. Br J Ophthalmol 2007;91:1579-82.  Back to cited text no. 1
    
2.
Baklouti K, Mghaieth F, Mhiri N, Ayachi M, El Matri L. Iridocyclitis in a patient with Behçet's disease and a familial form of retinitis pigmentosa. J Fr Ophtalmol 2007;30:e25.  Back to cited text no. 2
    
3.
al-Aboosi MM, al Salem M, Saadeh A, al-Jamal M, Hijawi M, Khammash M, et al. Behçet's disease: Clinical study of Jordanian patients. Int J Dermatol 1996;35:623-5.  Back to cited text no. 3
    
4.
Chung YM, Yeh TS, Sheu MM, Chen MS, Wen MS, Tsai HY, et al. Behcet's disease with ocular involvement in Taiwan: A joint survey of six major ophthalmological departments. J Formos Med Assoc 1990;89:413-7.  Back to cited text no. 4
    
5.
Hamel C. Retinitis pigmentosa. Orphanet J Rare Dis 2006;1:40.  Back to cited text no. 5
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]
 
 
    Tables

  [Table 1]



 

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  In this article
Abstract
Introduction
Literature Review
Case Report
Summary
Discussion
Conclusion
References
Article Figures
Article Tables

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