Download Andrea Murphy - American Academy of Optometry

Restrictive Ocular Myopathy in Scleroderma
(CREST Syndromes)
Andrea L. Murphy, O.D.
AAO- Resident’s Day
October 23, 2008
Abstract
Scleroderma is a complicated, multi-system disorder characterized by cutaneous and visceral
fibrosis, vascular dysfunction, and immune activation. This case describes gaze restriction
secondary to extraocular muscle fibrosis, which is a rare manifestation of this condition.
I. Case History
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Patient RK
 58 year old white male
Chief Complaint
 Reports blur at distance and near, broke subjective Rx.
Ocular History
 Orbital fracture OS s/p surgery 1965 (inferior orbit); Pseudophakia OU
Medical History
 Scleroderma x 30 years; Raynaud’s phenomenon, s/p multiple digit amputation;
COPD; HTN; ruptured right Achilles tendon; Anxiety/panic attacks; CAD s/p MI
with 3 vessel CABG; HL; Iron deficiency; Osteopenia; Tinnitus, left ear;
Sensorineural hearing loss; Tachycardia; Hypoplastic pituitary with 2’
hypothyroid and hypogonadism; invasive SCCa (floor of mouth)- s/p surgical
resection 8/06 and 12/06; s/p appendectomy; s/p rhinoplasty 1970; h/o EtOH
abuse
Medications
 Chlorhexidine Gluconate, Diltiazem, Omeprazole, Albuterol, Aspirin, Ibuprofen,
Ipratropium Bromide, Nitroglycerin, Calcitonin, Tamsulosin, Docusate NA,
Testosterone Enanthate, Prednisone, Codeine 30/Acetaminophen 300,
Memetasone Furoate, Calcium 500/Vitamin D 200, Levothyroxine Na,
Rosuvastatin Ca.
Other salient info
 Patient RK is a former EMT and has a long history of self-adjusting medications
depending upon his symptoms.
II. Pertinent Findings
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Clinical
 VA (with manifest Rx): OD 20/20 OS 20/20-2
 Pupils: +Direct and Consensual without APD
 Confrontation fields: FTFC OD, OS
 EOMs: OD 10% supra; 25% infra, abduct, adduct
OS 10% supra; 30% adduct and abduct; 25% infra
(-)doll’s head eye movements, (-)diplopia
 Hertel Exophthalmometry: Base 101 OD: 24 mm OS: 24 mm
 MRD1: OD 1mm OS 1mm
 MRD2: OD 8 mm OS 9 mm
 Anterior Segment exam: moderate MGD and ptosis OU
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 IOP: 20 mmHg OD, OS
 Fundus exam: PCIOL OU; one macular drusen OS; otherwise unremarkable OU
Physical
 Sclerodactyly with multiple digital amputations, difficulty ambulating
independently (uses cane and wheelchair occasionally)
Laboratory studies
 (+)ANA (1:160 titer, homogenous pattern); (+)anti-Scl-70; normal anti-SSA and
anti-SSB
Radiology studies
 MRI- EOMs of normal caliber
Others: Follow-up with neuro-ophthalmologist for gaze restriction OU
 EOMs: 25% (of expected range) in all gazes OU;
(-)doll’s head eye movements; (-)diplopia
 Forced duction testing: mild-moderate resistance in all gazes OU with
cotton swab and forceps
 Conclusion- Anti-body markers and motility pattern, including reduced
Doll’s eye movements, are consistent with scleroderma.
III. Differential diagnosis
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Primary: Restrictive ocular myopathy secondary to scleroderma
Others: CPEO, PSP, Parkinson’s, MG, Thyroid disease
IV. Diagnosis and discussions
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Scleroderma is a chronic, autoimmune connective tissue disorder that leads to
inflammation and fibrosis of the skin and internal organs.
 Cause is unknown
 More common in women and African Americans
 Prevalence of women to men is 4:1
 Onset is usually between the fourth to sixth decades of life
Can be classified as systemic or localized:
 Systemic manifestations include musculoskeletal, renal, pulmonary, cardiac, and
gastrointestinal
 Localized scleroderma is differentiated into 3 forms:
 Generalized, morphea (atrophic and sclerotic skin lesions) and linear
scleroderma
The CREST acronym describes the heterogenous group of findings in scleroderma:
 Calcinosis, Raynaud’s phenomenon, Esophageal dysmotility, Sclerodactyly, and
Telangiectasias
Skin manifestations include: a fixed expression, restrictive movements of the lips,
“beaking” of the nose, morphea, sclerodactyly, and calcinosis cutis.
Involvement of the orbit and the eye is uncommon.
 Clinical ocular findings include: eyelid tightening and telangiectases;
keratoconjuctivitis sicca and hyposecretion of tears; shallow conjunctival
fornices
 CNS involvement may include: ptosis, uveitis, pseudo-oculomotor palsy,
retrobulbar pain, headache, focal neurological deficit, or seizure disorder
 Enophthalmos and restriction of ocular motility, especially in elevation, may also
ensue
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 Progressive orbital involvement may be accompanied by focal sclerotic
induration or hyperpigmentation of the forehead skin leading to “en coup de
sabre.”
Diagnosis is clinical, however, antibodies specific to scleroderma do exist, including
nuclear ribonuclear protein, nucleolar antigens, and Scl-70.
Unique features:
 Only a handful of cases reported with extraocular motility involvement
V. Treatment and management
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No cure or single treatment exists, however, therapy for specific organ involvement has
been found to be effective.
Raynaud’s phenomenon:
 Calcium-channel blockers (Nifedipine)
 Prostacyclin analogues (I.V. Iloprost, Alprostadil, or I.V. Epoprostenol)
 Sildenafil and selective serotonin-reuptake inhibitors (vasodilatory)
 Atorvastatin (vasculogenesis)
Dermatological:
 Sildenafil, Bosentan, and I.V. Iloprost (prevent and/or heal digital ulcers)
 Methotrexate & Cyclophosphamide (slow the manifestations of skin disease)
 Topical analgesic therapy
Musculoskeletal complications:
 NSAIDs and low dose prednisone (drugs of choice)
 Leflunomide (investigated as an alternative treatment)
Esophageal impairment:
 Histamine 2- receptor blockers and proton-pump inhibitors
 Diet modification.
 Cyclophosphamide for pulmonary interstitial fibrosis
 Prostacyclin analogues for pulmonary arterial hypertension
Hypertension
 ACE inhibitors
Ocular symptoms:
 DES or Sjogren’s syndrome
 Pilocarpine, artificial tears, and/or Restasis
 Orbital myositis
 NSAID’s
 Corticosteroids (dosage dependent upon muscle involvement)
 Immunosuppressive therapy may also be beneficial
VI. Conclusion
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Ocular complications of scleroderma are rare. In some instances, varying degrees of
ocular myopathy may ensue, making scleroderma an important diagnosis to consider in
these patients, given its potential for extensive systemic involvement.
 Videos, photos, and imaging to be included in presentation
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