Alex V. Levin
BASICS
DESCRIPTION
• Child born with drooping eyelid toward or into the visual axis
• May be unilateral or bilateral
EPIDEMIOLOGY
Unreported.
RISK FACTORS
• Family history
• Birth trauma
Genetics
• Mostly unknown
• Reported genomic loci include 8q21.11–q22.1 (1), 1p32–1p34.1 (autosomal dominant), and Xq24–27.1 (X linked recessive)
• Associated with many genetic syndromes (e.g., Cornelia de Lange, Turner syndrome, craniofacial disorders)
• One of the cardinal features of blepharophimosis syndrome (congenital ptosis, epicanthus inversus, horizontal shortening of palpebral fissures), autosomal dominant, FOXL2 gene (3q22), may be associated with female infertility, also a locus at 7q34.
GENERAL PREVENTION
• Genetic counseling where appropriate
• Otherwise no specific intervention
PATHOPHYSIOLOGY
Dysgenesis of levator palpebrae muscle: Decreased contractile force of the levator muscle.
ETIOLOGY
Usually idiopathic, possible genetic factors.
COMMONLY ASSOCIATED CONDITIONS
• Marcus-Gunn Jaw Wink phenomenon (2%)
• Amblyopia
• Strabismus
• Chin lift
• Brow lift
• Refractive error (myopia or astigmatism)
DIAGNOSIS
HISTORY
• Onset from birth
• May be symmetric or asymmetric,
• May range from less than a millimeter to complete closure.
– Possible chin up position to view straight ahead.
– Inquire about lagophthalmos when sleeping.
PHYSICAL EXAM
• Visual acuity testing to reveal amblyopia secondary to obstruction of the visual axis or induced aniso-astigmatism
• Child may have chin up position, particularly if ptosis is bilateral and in the visual axis.
– Evaluate ocular motility for possible cranial nerve III palsy, or double elevator palsy.
– Absent upper lid skin crease if severe
– Evaluate pupils and lower lid position to rule out Horner syndrome and mydriasis of cranial III palsy.
– Cycloplegic refraction to uncover induced astigmatism, myopia, and anisometropia
– Measure interpalpebral fissure height, margin reflex distance, and maximal levator function if possible.
– Anterior segment evaluation to reveal iris heterochromia of Horner syndrome.
• Check for “reversal” of ptosis in downgaze. Congenital myogenic ptotic eyelids are typically short. Downgaze may reveal lower eyelid on normal side.
– Evaluate eyelid position while child is drinking from bottle or chewing for Marcus-Gunn Jaw-Wink phenomenon.
– Full systemic examination for malformation is indicative of an associated systemic syndrome.
DIAGNOSTIC TESTS & INTERPRETATION
Lab
Initial lab tests
• None
• Electrocardiography in cases of suspected chronic progressive ophthalmoplegia
Follow-up & special considerations
• Consider genetic testing if blepharophimosis syndrome suspected.
• Anti-acetylcholine receptor antibody titers in cases of suspected myasthenia gravis.
Imaging
Initial approach
Usually none required.
Follow-up & special considerations
Consider neuroimaging in cases of suspected cranial nerve III palsy, double elevator palsy, Horner syndrome, and tumor.
Diagnostic Procedures/Other
B scan ultrasound may be useful if lid mass suspected.
Pathological Findings
• Fibrous and adipose tissues replace normal muscle fibers in the muscle belly.
• Lack of normal muscle fibers with some changes to extracellular matrix
• Amorphous extracellular material stained positively for collagen type III and fibronectin (2).
DIFFERENTIAL DIAGNOSIS
• Cranial nerve III palsy
• Horner syndrome
– Double elevator palsy
– Hypotropia
– Congenital fibrosis of extraocular muscles
– Rarely myasthenia gravis, myotonic dystrophy, chronic progressive external ophthalmoplegia, birth trauma, orbital tumors
– Blepharophimosis syndrome
– Pseudoptosis in cases of microphthalmia or enophthalmos
TREATMENT
MEDICATION
First Line
None.
Second Line
May need ocular lubrication (e.g., artificial tear ointment), especially as child gets older, if significant corneal exposure due to lagophthalmos when sleeping.
ADDITIONAL TREATMENT
General Measures
• Glasses for refractive error
• Patching or atropine penalization for amblyopia as needed
• Taping lid shut at night may be helpful in cases of significant lagophthalmos while sleeping particularly if corneal exposure develops.
• If secondary, then treatment of primary disorder (e.g., strabismus surgery for hypotropia)
Issues for Referral
• If considering cranial nerve III palsy, Horner syndrome, chronic progressive ophthalmoplegia, consult pediatric neurologist or neuro-ophthalmologist.
– Genetic counseling if indicated
SURGERY/OTHER PROCEDURES
• Surgery when amblyopia likely or for significant chin up position
– If poor levator muscle function (usually <4 mm), frontalis suspension surgery
– When adequate levator muscle function, levator resection surgery
IN-PATIENT CONSIDERATIONS
Discharge Criteria
Usually same day surgery with discharge when stable post anesthesia.
ONGOING CARE
FOLLOW-UP RECOMMENDATIONS
• Observation may be indicated in mild congenital ptosis cases when there is no obstruction of the visual axis, induced refractive error, or anomalous head position. Continued follow-up indicated to monitor for amblyopia.
• If diagnosed in infancy, follow up when child is sitting up to evaluate ptosis, visual axis, and anomalous head position.
– Repeat pupil, motility, and cycloplegic refraction for changes.
• If surgery performed
• Usually 4–7 days postoperative
– Follow up at 1 and 4 months, then every 6 months.
– Recurrence of ptosis may require repeated surgeries over years.
Patient Monitoring
Must monitor for recurrent ptosis, induced astigmatism, amblyopia, and anomalous head position (3).
PATIENT EDUCATION
• Patients and or parents need to understand recurrence of ptosis and need for continued follow up to screen for amblyopia and refractive error.
• http://www.mdjunction.com/congenital-ptosis
PROGNOSIS
Excellent with consistent follow-up care.
COMPLICATIONS
• Amblyopia if significant ptosis is not addressed. (4)
– Recurrent ptosis may occur at any time.
– Infections or granulomas can occur in the early postoperative period following frontalis sling surgery, and may require return to operating room for incision and drainage, and systemic antibiotics.
– Lid asymmetry may require repeat surgery.
– Exposure keratopathy in some cases of lagophthalmos
REFERENCES
1. Nakashima M, Nakano M, Hirano A, et al. Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family. J Hum Genet 2008;53(1):34–41.
2. Clark BJ, Kemp EG, Behan WM, et al. Abnormal extracellular material in the levator palpebrae superioris complex in congenital ptosis. Arch Ophthalmol 1995;113(11):1414–9.
3. Berry-Brincat A, Willshaw H. Paediatric blepharoptosis: A 10-year review. Eye 2009;23(7):1554–9.
4. Oral Y, Ozgur OR, Akcay L, et al. Congenital ptosis and amblyopia. J Pediatr Ophthalmol Strabismus 2010;47(2):101–4.
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