Ectopia lentis and its low vision management

1. ECTOPIA LENTIS
AND ITS LOW VISION MANAGMENT
Indra P Sharma
Master of Clinical Optometry (Year I)
Amity Medical School

2. Objective
 To have a better understanding about ectopia
lentis with regard to its pathophysiology, etiology,
clinical manifestation and management.
 To understand the management of ectopia lentis
with low vision aids

3. Contents
1. An overview
2. Signs and symptoms
3. Etiology of ectopia lentis
4. Workup and evaluation
5. Treatment
6. Low Vision Management
7. Conculsion
8. Reference

4. An overview
Signs and
Symptoms
Etiology of
ectopia lentis
Workup and
evaluation
Treatment
Low Vision
Management
Conculsion
Reference
An Overview

5. Introduction
 Ectopia lentis is defined as displacement or malposition
of the crystalline lens of the eye.
 1749 - Berryat first reported case of lens dislocation
 1856- Stellwag coined the term “ectopia lentis”
 Ectopia lentis can be :
1. Subluxation
2. Luxation (dislocated)
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6. Subluxation
 Condition when the
crystalline lens is
partially displaced but
contained within the
lens space.
 Few zonular attachment
present
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7. Dislocation
 Also known as luxated
 When lens lies completely
outside the lens patellar
fossa, in the anterior
chamber, free-floating in
the vitreous, or directly on
the retina.
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8. Anatomy of zonules
 The lens is suspended in its anatomic position by
ciliary zonules (zonules of Zinn or suspensory
ligament of Zinn)
 Zonules fibers which run from ciliary body and
insert into the outer layer of the lens capsule
around the equator (1.5 mm anteriorly and 1mm
posterior)
 Stronger zonules in anterior capsule
 Each zonule measures 5 to 30μm in diameter
and is composed of bundles of microfibrils
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9. Pathophysiology
 Underlying
pathophysiology -
Disruption or dysfunction of
the zonular fibers of the
lens, regardless of cause
(trauma or heritable
condition)
 The degree of zonular
impairment determines the
degree of lens
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10. Epidemiology
Frequency
 A rare condition.
 Incidence in the general population is unknown.
Mortality/Morbidity
 Can cause marked visual disturbance, depending the
degree of lens displacement and the underlying etiology
Sex
 More common in males.
Age
 At any age (At birth or it may manifest late in life)
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11. An overview
Signs and
Symptoms
Etiology of
ectopia lentis
Workup and
evaluation
Treatment
Low Vision
Management
Conculsion
Reference
Signs and Symptoms
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12. Symptoms
 Distance visual acuity (moderate to severe impairment)
depending on position of lens
1. Fluctuating vision dramatically as the vision may alternate
between phakia and aphakic
2.Progressive movement of the lens- Extreme hyperopic shift or
myopic astigmatism
 Poor near vision
Due to loss of accommodative power due to weakened,
stretched or broken zonules
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13. Contd...
 Monocular diplopia
 Visual field defects (Due to lens induced secondary
glaucoma)
A 1963 histological study found that crystalline lenses that
were
dislocated anteriorly were associated with glaucoma 77.2% of
the time and that crystalline lenses that were subluxed or
dislocated
Source: Sihota R Sood NN, Argarwal He. 1995. Traumatic glaucoma.Acta Ophthalmol Scand
posteriorly were associated with glaucoma 87.5% of the time.
73:252-254.
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14. Contd....
 Painful red eye (secondary to trauma)
 Glare and photophobia
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15. An overview
Signs and
Symptoms
Etiology of
ectopia lentis
Workup and
evaluation
Treatment
Low Vision
Management
Conculsion
Reference
Etiology of ectopia lentis
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16. Traumatic dislocation
 Traumatic dislocation is most common cause of ectopia
lentis.
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17. Hereditary ectopia lentis without
systemic manifestations
Single (isolated) ectopia lentis
 Autosomal dominant inheritance
 Genetic defect located on chromosome
15, causing a dysfunctional zonular
apparatus.
 Microspherophakia is common.
 Present at birth, can even onset late
 Typically, supertemporal displacement
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18. Ectopia lentis et pupillae
 Usually is bilateral and typically autosomal
recessive.
 characterized by asymmetric eccentric pupils
that are displaced in the opposite direction of
the lens dislocation (toward the most
dysfunctional zonular fibers).
 The irides often appear atrophic with
transillumination defects
 Cataracts (common)
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19. Pupil may be displaced in opposite
Single (isolated) ectopia lentis direction (ectopia lentis et pupillae)
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20. Systemic conditions associated
with ectopia lentis
 Marfan syndrome (most frequent cause of
hereditary ectopia lentis)
 Homocystinuria (second most common cause of
hereditary ectopia lentis)
 Weil-Marchesani syndrome
 Sulfite oxidase
 Hyperlysinemia
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21. Marfan syndrome
 Transmitted as an autosomal dominant
trait
 Prevalence: approx. 5 per 100,000.
 Mutations involving the fibrillin gene on
chromosomes 15 and 21 and may relate
to incompetent zonular fibers.
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22. Systemic association of
Marfan
• Limb-trunk
• disproportion
• Arachnodactyly
• Pectus excavatum
• High-arched palate
• Aortic dilatation,
dissection and
regurgitation
• Mitral valve prolapse
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23. Ocular manifestation
 Superio-temporal
dislocation of a lens in 80%
of cases
 Zonules usually intact
 Blue sclera
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24. Contd..
 Axial myopia  Lattice degeneration
 Cornea plana
 Angle anomaly and
glaucoma
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25. Homocystinuria
 It is an inborn error of metabolism.
 Most often caused by a deficiency of
cystathionine b-synthetase (the enzyme
that converts homocysteine to
cystathionine).
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26. Systemic and ocular
manifestation
 Malar flush and fine fair hair
 Marfanoid habaitus
 Increased platelet stickiness
 Mental retardation-50%
 Inferonasal lens
subluxation -90%
 Disintegretation of
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27. Weil-Marchesani Syndrome
 Rare syndrome characterized by skeletal
malformations
 The inheritance pattern is not well
understood.
 Pupillary block glaucoma is common;
therefore, prophylactic laser peripheral
iridotomies are recommended.
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28. Systemic and ocular
manifestation
 Short stature
 Short stubby fingers
(brachydactyly)
 Mental handicap
 Microspherophakia (most
common)
 Anterior lens subluxation
(usually)
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29. Sulfite oxidase deficiency
 Extremely rare disorder caused by a
defect in sulfur metabolism.
Salient features are:
 Progressive CNS abnormalities that
develop within the first year of life
 Ectopia lentis.
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30. Hyperlysinemia
 Extremely rare autosomal recessive
enzymatic defect of amino acid
metabolism
Salient features:
 Mental retardation and lens dislocation.
 Diagnosis is made by demonstration of
increased plasma levels of lysine.
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31. Primary ocular disorders
associated
 Congenital glaucoma/buphthalmos
 Pseudoexfoliation syndrome
 Syphilis/chronic uveitis
 Retinitis pigmentosa
 Hypermature cataract
 Intraocular tumor
 High myopia
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32. Systemic diseases rarely
associated
 Ehlers-Danlos
syndrome
 Crouzon disease
 Refsum syndrome
 Kniest syndrome
 Mandibulofacial
dysostosis
 Sturge-Weber
syndrome
 Conradi syndrome
 Pfaundler
syndrome
 Pierre Robin
syndrome
 Wildervanck
syndrome
 Sprengel deformity
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33. An overview
Signs and
Symptoms
Etiology of
ectopia lentis
Workup and
evaluation
Treatment
Low Vision
Management
Conculsion
Reference
Workup and evaluation
Sharma IP

34. Detailed history
History of ocular trauma.
History investigating possible systemic disease
associations.
 Cardiovascular disease in Marfan syndrome
 Skeletal problems in Marfan syndrome,Weil-Marchesani
syndrome or homocystinuria
Pertinent family history
 Consanguinity
 Mental retardation
 Unexplained deaths at young age
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35. Ophthalmic evaluation
Visual acuity
 Amblyopia is a common cause of decreased
vision in congenital ectopia lentis.
External ocular examination
 Orbital anatomy for hereditary malformations
(eg, enophthalmos with facial myopathic
appearance seen in Marfan syndrome).
 Measure corneal diameter (megalocornea in
Marfan syndrome).
 Strabismus is common (secondary to amblyopia).
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36. Contd..
Retinoscopy and and keratometry
 Careful retinoscopy and refraction is essential, often
revealing myopia with astigmatism.
 Keratometry may help ascertain degree of corneal
astigmatism.
Slit lamp examination
 Evaluate lens position, and identify phacodonesis or
cataract.
 Measure intraocular pressure.
Dilated fundus examination
 To rule out retinal detachment
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37. Laboratory studies
 Perform appropriate diagnostic and laboratory
evaluation, if a hereditary condition is suspected
 Cardiac evaluation for Marfan syndrome
 Check serum and urine levels of homocysteine
or methionine for homocystinuria.
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38. Imaging studies
A scan
 Axial length measurement may be of benefit
(patients with Marfan syndrome have large
globes)
B scan
 For any other associated vitrous and retinal
complications
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39. An overview
Signs and
Symptoms
Etiology of
ectopia lentis
Workup and
evaluation
Treatment
Low Vision
Management
Conculsion
Reference
Treatment
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40. Refractive management
The key to managing lens subluxation optically is
to
perform two refractions:
 1.For that portion of the pupil covered by the
crystalline lens (myopic astigmatism zone) and
 2. For that portion of the pupil not covered by
the crystalline lens (highly hyperopic zone).
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41. Contd...
 For moderate to severe subluxation
Option: An aphakic prescription with bifocals
and a pharmacologic dilation
 For lens is subluxed out of the visual axis
(bilateral) Best option: An aphakic prescription
 Both spectacle and contact lens may be
helpful.
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42. Medical management
 If no, history of trauma, patients may
possess a systemic disease with potentially
deleterious effects; therefore,
comanagement with pediatrician or internist
is essential.
 Dietary restriction: partially effective in
homocystinuria.
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43. Contd...
 Treatment of glaucoma is dependent on the
etiologic mechanism.
 Pupillary block requires laser peripheral iridotomy
or iridectomy and raised IOP treated medically.
 Prophylactic laser iridotomy in microspherophakia.
 Dislodged lens into the AC is initially
pharmacological (mydriasis/cycloplegia) in
conjunction with ocular massage through a closed
lid.
 Treatment of a dislocated lens in the vitreous is
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44. Sugical treatment
1.Nd:YAG laser zonulysis
 to displace lens out of visual axis
2.Lesectomy
Lensectomy is technically challenging and are indication in the
following:
 Lens in the anterior chamber
 Lens-induced uveitis
 Lens-induced glaucoma
 Lenticular opacity with poor visual function
 Anisometropia or refractive error not amenable to optical
correction (eg, in a child to prevent amblyopia)
 Impending dislocation of the lens
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45. Prevention and prognsis
Deterrence/Prevention
 Early diagnosis of ectopia lentis with appropriate optical
correction can prevent amblyopia.
Complications
 The most common ocular complications include
amblyopia, uveitis, glaucoma, and retinal detachment
Prognosis
 Depending on the degree of lens dislocation, the age of
onset, and its associated secondary complications, most
patients do well.
 Trauma-associated ectopia lentis – poor visual
prognosis
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46. An overview
Signs and
Symptoms
Etiology of
ectopia lentis
Workup and
evaluation
Treatment
Low Vision
Management
Conculsion
Reference
Low vision management
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47. Rule of thumb
 Provide LVA to help releive the main
symptoms first
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48. Distance viewing devices
Why do we need it?
 To compensate for high hypermetropia or
myopic astigmatism
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49. High power lenses
 High plus spectacle
(aspheric lenses)
 Aphakic contact
lens
(Silsoft/silsoft super plus)
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50. Roving Ring Scotoma
 Circular restriction in the peripheral VF due to
prismatic effect of high plus lenses.
 Aspheric lenses
reduces this scotoma
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51. Telescopes
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52. Sharma IP

53. Near optical devices
Why is it required?
 To compensate for high hyperopia and loss of
accommodation
 Preferable near viewing devices
1. Spectacle-mounted Reading Lenses
2. Telemicroscopes
3. Magnifiers
4. Electronic Devices- CCTV
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54. Spetacle mounted reading glasses
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55. Telemicroscope
 Eyeglass
mounted
microscopes can
be
made to focus at
any
working distance.
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56. Magnifiers
 Illuminated and non-illuminated
 Hand held and stand magnifiers
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57. Electronic magnification
devices
 Head mounted
video
display systems
 CCTV
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58. Visual field enhancing
devices
 Reverse telescope
To compensate for VF
defects due to secondary
Glaucoma.
 Prisms
 Mirrors
 Reverse Telescope
system
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59. Non-optical aids
 Relative size and larger assistive devices
 Glare, contrast, and lighting control
devices
 Handwriting and written communication
devices
 Medical management devices
 Orientation and mobility management
techniques and devices
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60. Relative size and larger assistive
devices
 Large print
 Books, magazines, newspaper, dictionaries, thesauri,
atlas, cookbooks, encyclopedias, bibles
 Photocopy machines ( e.g. A4 size to A3 size)
 Computer with large prints font
 Computer software program
 Large print typewriters
 Others
 Telephone dial, bank checks, watches, clocks, calculators etc
 Games like cross word puzzles, playing cards, chess
checkers, bingo etc.
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61.  Magic 8.0  Large print
telephones
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62.  Large print
calculator
 Playing cards
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63. Glare, contrast, and lighting
control devices
Aphakia allows for increased transmission of UV
radiation
 Shades
 Tennis shades, caps, hats, side-shields, visors
 Filters
 NoIR and CPF lenses
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64.  Sunglasses/ photochromatic lenses to reduce
illumination levels
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65. Typoscopes – a reading guide cut
off glare
Glare cutter ( 390-410nm)-
cuts 100% UVB, 99% UVA
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66. Diplopia eliminating devices
 Stenopeic slit
 Aperture control contact lens
 Pinhole lenses
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67. Color and contrast
adjustments
Environmental modification Painted edges of Staircase
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68.  Contrast in kitchen
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69. Hand writing and written
communication
 Signature guide
 Check guides
 Reading guide
 Large prints
 Bold felt-tip pens
 Bold line paper
 Large print typewriters
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70. Medical management devices
 Monitoring blood glucose
 Large print syringe
 Syringe with magnifiers ( optical device)
 Preset dosage
 Pre-filled syringes- filled with clicking sounds
 Monitoring blood pressure
 Readout sphygmomanometers for hearing problems
 Monitoring temperatures
 Large readout thermometers and talking thermometer
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71.  Talking colour detector
IPS
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72. Counselling
 If a hereditary condition is discovered,
appropriate genetic counseling recommended.
 All relatives with potential risk should be
examined.
 Advised against playing contact sports or doing
physically strenous activities.
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73. An overview
Signs and
Symptoms
Etiology of
ectopia lentis
Workup and
evaluation
Treatment
Low Vision
Management
Conculsion
Reference
Conclusion
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74. Take home message
 Managing patients with ectopia lentis including
refraction is usually difficult and needs
expertise to manage them well.
 As most patients with ectopia lentis are
syndromic, co-management with other
specialist is essential.
 While managing patient with low vision we
need to looks at various cause and other
ocular association like glaucoma, retinal
detachment and amblyopia.
 An optometrist needs to understand the need
of the patient and prescribe according.
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75. An overview
Signs and
Symptoms
Etiology of
ectopia lentis
Workup and
evaluation
Treatment
Low Vision
Management
Conculsion
Reference Reference
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76. Reference
Books
 Jonathan A Jackson, Low Vision Mannual,2007, Butterworth
Heineman Elsevier.
 William J Benjamin,2006, Borish’s Clinical Refraction,
Butterworth Heineman Elsevier. 20: 816-829
 Lighthouse International, The Lighthouse Clinician’s Guide
to Low Vision Practice
 Brilliant Richard L, 1999, Essentials of Low vision Practice,
Butterworth Heineman Elsevier. 6.8.9.10
Websites
 www.emedicine.medscape.com
 www.rootatlas.com
 en.wikipedia.org
 www.google.com/imghp
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77. Tashi Delek
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