New/Yeni Symposium Journal • www.yenisymposium.net 169 Ekim 2006 | Cilt 44 | Sayı 4
A Case of Blepharospasm with Retinitis Pigmentosa
Nilda Turgut*, Vuslat Gürlü Pelitli**, Yahya Celik*, Ufuk Utku*, Sait Erda**
* Trakya University Medical Faculty Neurology Edirne, Turkey
** Trakya University Medical Faculty Ophthalmology Departments, Edirne, Turkey Tel: +902842357641 Fax: +902842357652
E-mail: nildaturgut@hotmail.com
ABSTRACT
Retinitis pigmentosa is a retinal dystrophy characterized with a progressive degeneration of pho-toreceptors that result with visual impairment. Blepharospasm is a primary focal dystonia presen-ted with involuntary and persistent contraction of the orbicularis oculi muscle causing spasmodic closure of the eyelids. Most of the cases of blepharospasm have no other identifiable associated disease. We report here a patient with retinitis pigmentosa who developed severe blepharospasm.
Keywords: retinitis pigmentosa, blepharospasm, retina, focal dystonia ÖZET
Retinitis pigmentoza fotoreseptörlerin ilerleyici dejenerasyonu ile gelişen ve görme bozukluğu ile seyreden bir retinal distrofidir. Blefarospazm orbikularis okuli kasında istemsiz kasılmalarla seyre-den primer fokal distoni durumudur. Vak’aların çoğunda blefarospazm izole olarak ortaya çıkmak-ta, başka bir hastalığa eşlik etmemektedir. Bu yazıda retinitis pigmentozaya ciddi blefarospazmın eşlik ettiği bir vak’a sunulmuştur.
Anahtar Kelimeler: retinitis pigmentoza, blefarospazm, retina, fokal distoni
INTRODUCTION
Retinitis pigmentosa is a retinal dystrophy that is characterized with a progressive degeneration of pho-toreceptors, and it is one of the major causes of untre-atable blindness in young adults. Clinical characteris-tics include night blindness and visual field loss ac-companied by bone spicule-like pigmentary depositi-on of the retina (Xia et al 2004, Oh et al 2003).
Blepharospasm is an involuntary and persistent contraction of the orbicularis oculi muscle that causes spasmodic closure of the eyelids, usually begins in mid-age (Misbahuddin et al 2002, Grandas et al 1988). Most cases of blepharospasm have no other identifiab-le associated disease, but it occasionally has been re-ported in patients with retinitis pigmentosa (Coppeto and Lessell 1990). We report here a patient with retini-tis pigmentosa who developed severe blepharospasm.
CASE
A 54-years-old woman was admitted to our outpa-tient neurology clinic with intermittent bilateral eyelid closure as a result of involuntary contractions of the orbicularis oculi muscles. Also she suffered visual loss and she was diagnosed retinitis pigmentosa at 13-ye-ars-old. On ophthalmic examination visual acuity was
recorded positive light perception and projection. Slit-lamp examination revealed bilateral posterior subcap-sular cataract. Intraocular pressure was 16 mmHg at the right side and 18 mmHg at the left side. Binocular and indirect ophthalmoscopy of eyes showed narro-wed retinal vessels, depigmentation of the retinal pig-ment epithelium, intra-retinal bone spicule pigpig-menta- pigmenta-tion and waxy pallor of the optic discs which were characteristically for retinitis pigmentosa. Her neuro-logical examination was normal except for the visual loss and blepharospasm.
Surface electromyography showed tonic discharges in the orbicularis oculi muscles when she attempted to open her eyes. The blink reflex was studied and the supra-orbital nerve was electrically stimulated with supra-maximal intensity with 0.2 msec duration and normal latency values of R1, R2 and R2 consensual ob-tained bilaterally. Her liver, renal and thyroid function tests and hematological findings were normal.
There was no achantocytosis. Serum lactate, pyru-vate, ceruloplasmine and betalipoprotein levels were within normal values. Magnetic resonance imaging of the brain was normal.
Patient was treated with botulinum toxin A for blepharospasm, and she obtained good relief.
New/Yeni Symposium Journal • www.yenisymposium.net 170 Ekim 2006 | Cilt 44 | Sayı 4 DISCUSSION
In this report we present a patient with retinitis pigmentosa who developed severe blepharospasm. Most cases of blepharospasm have no other identifi-able associated disease. In the literature there is only one report describing retinitis pigmentosa associated with blepharospasm. Coppeto and Lessell (1990) re-ported 2 siblings with a syndrome of pigmentary reti-nopathy, blepharospasm, and dystonia. Although the-se findings suggested Hallervorden-Spatz dithe-seathe-se they described that as a distinct disorder.
Retinitis pigmentosa is a progressive retinal dys-trophy resulting in severe visual impairment (Xia et al. 2004). Many neurodegenerative diseases are associ-ated with abnormal retinal pigmentation. These are familial disorders, and sporadic or mitochondrial syndromes. Our case had no family history, also no ot-her clinical signs and additional laboratory findings, so familial disorders such as Hallervorden-Spatz dise-ase, abetalipoproteinemia, ceruloplasmin deficiency were excluded (Coppeto and Lessell 1990, Miyajima et al 1987). Diffuse cerebral sclerosis with pigmentary retinopathy, Rud’s syndrome and Tuck-McLeod syndrome are sporadic disorders and these were exc-luded because our patient’s had no clinical and labo-ratory findings resembling these syndromes (Kayden et al 1973, Marxmiller et al 1985, Tuck and McLeod 1983). Pigmentary retinopathy sometimes occurs in mitochondrial cytopathies such as Kearns-Sayre syndrome, MERRF (myoclonus epilepsy with ragged-red fibers) or MELAS (mitochondrial encephalomyo-pathy with lactic acidosis and stroke-like episodes). But our patient had no ophtalmoplegia, deafness, myoclonic epilepsy, encephalopathy, stroke-like epi-sodes, and lactic acidosis (Mullie et al 1985, DiMauro et al 1987).
Blepharospasm is a disorder characterized by bila-teral episodic contractions of the orbicularis oculi muscle that cause spasmodic closure of the eyelids (Grandas et al 1988, Kerrison et al 2003). Most cases of blepharospasm have no other identifiable associated disease. Blepharospasm can occasionally associate with degenerative extrapyramidal disorders such as Idiopathic Parkinson’s disease (PD), progressive sup-ranuclear palsy (PSP), multi-system atrophy (MSA) and cortico-basal degeneration (CBD) (Janati et al 1989, Rivest et al 1990, Gibb et al 1989, Boesch et al 2002). But it has been reported that blepharospasm de-velop in the advanced stage of the extrapyramidal di-sorder (Janati et al 1989). Our patient had no clinical
signs and radiological findings of PD, PSP, MSA and CBD. So we think that blepharospasm is a distinct fin-ding other than neurodegenerative disorder.
Coppeto and Lessell (1990) reported 2 siblings with a syndrome of pigmentary retinopathy, blepha-rospasm, and dystonia resembling to Hallorverden-Spatz disease. But unlike those with Hallervorden-Spatz disease, their patients had not a fulminant cour-se, and one of the patients’ illness began in late teens rather than in childhood. Also Newell et al (1979) re-ported that cases of Hallervorden-Spatz disease with pigmentary retinopathy have an earlier onset and mo-re fulminant course than cases without mo-retinopathy.
In this report we presented a patient with retinitis pigmentosa who developed severe blepharospasm. In our case retinitis pigmentosa developed at age 13, blepharospasm developed at age 45. We think that re-tinitis pigmentosa and blepharospasm represents an independent entity. But this entity may be distinct di-sorder without identifiable neuroimaging and bioche-mical abnormalities.
REFERENCES
Boesch SM, Wenning GK, Ransmayr G, Poewe W (2002) Dysto-nia in multiple system atrophy. J Neurol Neurosurg Psychi-atry; 72: 300-303.
Coppeto J, Lessell S (1990) A familial syndrome of dystonia, blepharospasm, and pigmentary retinopathy. Neurology; 40: 1359-1363.
DiMauro S, Bonilla E, Zeviani M, Servidei S, DeVivo DC, Schon EA (1987) Mitochandrial myopathies. J Inherit Metab Dis; 10(suppl 1): 113-128.
Gibb WRG, Luthert PJ, Marsden CD (1989) Corticobasal degene-ration. Brain; 112: 1171-1192.
Grandas F, Elston J, Quinn N, Marsden CD (1988) Blepharos-pasm: a review of 264 patients. J Neurol Neurosurg Psychi-atry; 51: 767-772.
Janati A, Metzer WS, Archer RL, Nickols J, Raval J (1989) Blep-harospasm associated with olivopontocerebellar atrophy. J Clin Neuroophthalmol; 9: 281-284.
Kayden NJ, Reagan TJ, Mize CE, Herndon JH, Steinberg D (1973) Diffuse cerebral sclerosis erroneously reported as Ref-sum’s disease. Arch Neurol; 28: 304-307.
Kerrison JB, Lancaster JL, Zamarripa FE, Richardson LA, Morri-son JC, Holck DEE, AndreaMorri-son KW, Blaydon SM, Fox PT (2003) Positron emission tomography scanning in essential blepharospasm. Am J Ophthalmol; 136: 846-852.
Marxmiller J, Trenkle I, Ashwal S (1985) Rud syndrome revisi-ted: ichthyosis, mental retardation, epilepsy and hypogana-dism. Dev Med Child Neurol; 27: 335-343.
Misbahuddin A, Placzek MR, Chaudhuri KR, Wood NW, Bhatia KP, Warner TT (2002) A polymorphism in the dopamine re-ceptor DRD5 is associated with blepharospasm. Neurology; 58: 124-126.
Miyajima H, Nishimura Y, Mizoguohi K, Sakamoto M, Shimizu T, Honda N (1987) Familial apoceruloplasmin deficiency as-sociated with blepharospasm and retinal degeneration. Ne-urology; 37: 761-767.
Mullie MA, Harding AE, Petty RK, Ikeda H, Morgan-Hughes JA, Sanders MD (1985) Retinal manifestations of mitocondrial myopathy: A study of 22 cases. Arch Ophthalmol; 103: 1825-1830.
Newel FW, Johnson RO, Huttenlocher PR (1979) Pigmentary de-generation of the retina in Hallervorden-Spatz syndrome. Am J Ophthalmol; 88: 467-471.
Oh KT, Longmuir R, Oh DM, Stone EM, Kopp K, Brown J, Fish-man GA, Sonkin P, Gehrs KM, Weleber RG (2003)
Compari-son of the clinical expression of retinitis pigmentosa associ-ated with rhodopsin mutations at codon 347 and codon 23. Am J Ophthalmol; 136: 306-313.
Rivest J, Quinn N, Marsden CD (1990) Dystonia in Parkinson’s disease, multiple system atrophy, and progressive supranuc-lear palsy. Neurology; 41: 1571-1578.
Tuck RR, McLeod JG (1983) Retinitis pigmentosa, ataxia and pe-ripheral neuropathy. J Neurol Neurosurg Psychiatry; 46: 206-213.
Xia K, Zheng D, Pan Q, Liu Z, Xi X, Hu Z, Deng H, Liu X, Jiang D, Deng H, Xia J (2004) A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pig-mentosa. Mol Vision; 10: 361-365.
