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Ectopia lentis
Ectopia lentis refers to a displacement of the lens from its normal position. The lens may be
completely dislocated, rendering the pupil aphakic (luxated), or partially displaced, still
remaining in the pupillary area (subluxated). Ectopia lentis may be hereditary or acquired.
Acquired causes include trauma, a large eye (e.g. high myopia, buphthalmos), anterior uveal
tumours and hypermature cataract. Only hereditary causes are discussed below.
Without systemic associations
1 Familial ectopia lentis is an AD condition characterized by bilateral symmetrical
superotemporal displacement. It may manifest congenitally or later in life.
2 Ectopia lentis et pupillae is a rare, congenital, bilateral, AR disorder characterized by
displacement of the pupil and the lens in opposite directions. The pupils are small, slit
like and dilate poorly (Fig. 9.28A). Other findings include iris transillumination, large
corneal diameter, glaucoma, cataract and microspherophakia.
3 Aniridia is occasionally associated with ectopia lentis (Fig. 9.28B).

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Fig. 9.28 Ectopia lentis without systemic associations. (A) Ectopia lentis et pupillae; (B) inferior subluxation in aniridia

(Courtesy of J Schuman, V Christopoulos, D Dhaliwal, M Kahook and R Noecker, from Lens

and Glaucoma, in Rapid Diagnosis in Ophthalmology, Mosby 2008 fig. A; U Raina fig.B)
With systemic associations
Marfan syndrome

1 Pathogenesis. There is mutation of the fibrillin-1 gene (FBN1) on chromosome 15q21.

2 Inheritance is AD with variable expressivity; a minority of patients manifest only ocular

signs.
3 Musculoskeletal features
Tall, thin stature with disproportionately long limbs compared with the trunk (arm

span > height Fig. 9.29A).

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Kyphoscoliosis, sternal prominence (pectus carinatum) or depression (pectus

excavatum).
Long spider-like fingers and toes (arachnodactyly Fig. 9.29B) and mild joint

laxity.
A narrow high-arched (gothic) palate (Fig. 9.29C).
A long-shaped head, malar hypoplasia, enophthalmos and downslanting palpebral

fissures.
Flat feet, cutaneous striae and easy bruising.
Muscular underdevelopment and predisposition to hernias.

4 Cardiovascular lesions include dilatation of the aortic root, mitral valve prolapse and
aortic aneurysm formation.
5 Ectopia lentis which is bilateral and symmetrical is present in 80% of cases.
Subluxation is most frequently supero-temporal, but may be in any meridian. Because

the zonule is frequently intact (Fig. 9.29D), accommodation is retained, although rarely
the lens may dislocate into the anterior chamber or vitreous (Fig. 9.29E). The lens may
also be microspherophakic.
6 Other ocular features include angle anomaly which may result in glaucoma, retinal

detachment associated with lattice degeneration, hypoplasia of the dilator pupillae,

peripheral iris transillumination defects, cornea plana and strabismus.

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Fig. 9.29 Marfan syndrome. (A) Long limbs compared with the trunk; (B) arachnodactyly; (C) high-arched palate; (D) superotemporal
subluxation with intact zonule; (E) dislocation into the vitreous is rare

WeillMarchesani syndrome

WeillMarchesani syndrome is a rare systemic connective tissue disease, conceptually the

converse of Marfan syndrome.
1 Inheritance is AR or AD; the former maps to 19p13.3-p13.2 and the latter to FBN1, the

same as Marfan syndrome.

2 Systemic features include short stature, brachydactyly characterized by short, stubby

fingers (Fig. 9.30A) and toes, stiff joints and mental handicap.
3 Ectopia lentis which is inferior occurs in 50% of cases during late childhood or early

adult life. Microspherophakia is common so that subluxation occurs anteriorly to cause

pupil block or occasionally into the anterior chamber (Fig. 9.30B).
4 Other ocular features include angle anomalies, asymmetrical axial lengths and

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presenile vitreous liquefaction.

Fig. 9.30 WeillMarchesani syndrome. (A) Bradydactyly; (B) dislocation of microspheric lens into the anterior chamber

(Courtesy of R Curtis fig. B)

Homocystinuria

1 Pathogenesis. Inborn error of metabolism in which decreased hepatic activity of

cystathionine beta-synthase results in systemic accumulation of homocysteine and
methionine.
2 Inheritance is AR with the gene locus on chromosome 21q.22.3.
3 Systemic features
Coarse blond hair, blue irides, malar flush (Fig. 9.31A), Marfanoid habitus but

infrequent arachnodactyly.
Neurodevelopmental delay, mental handicap, psychiatric disturbance and

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osteoporosis.
Thromboses in any vessel and at any age, particularly postoperatively or

postpartum.
Treatment involves oral pyridoxine, folic acid and vitamin B12 to reduce plasma

homocysteine and methionine levels.

4 Ectopia lentis, typically inferonasal (Fig. 9.31B), is almost universal by the age of 25
years in untreated cases. The zonule, which normally contains high levels of cysteine

(deficient in homocystinuria), disintegrates (Fig. 9.31C) so that accommodation is often

lost. Secondary angle-closure may occur as a result of pupil block caused by lens
incarceration in the pupil, or a total dislocation into the anterior chamber.
5 Other ocular features include iris atrophy, optic atrophy, cataract, corneal opacity,

myopia and retinal detachment.

Fig. 9.31 Homocystinuria. (A) Coarse blond hair; (B) inferior subluxation with zonular disintegration; (C) histology shows matted zonular

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fibres lying over the ciliary epithelium

(Courtesy of J Schuman, V Christopoulos, D Dhaliwal, M Kahook and R Noecker, from Lens

and Glaucoma, in Rapid Diagnosis in Ophthalmology, Mosby 2008 fig. B; J Harry and G
Misson, from Clinical Ophthalmic Pathology, Butterworth-Heinemann 2001 fig. C)
Other systemic associations

1 Sulphite oxidase deficiency is an AR inborn error of sulphur metabolism characterized

by progressive psychomotor deterioration, progressive muscular rigidity, decerebrate
posture and demise usually before the age of 5 years. Ectopia lentis is universal.
2 Hyperlysinaemia is a very rare, AR inborn error of metabolism caused by a deficiency
in lysine alpha-ketoglutarate reductase. Systemic features include lax ligaments,

hypotonic muscles, seizures and mental handicap. It is occasionally associated with

ectopia lentis.
3 Stickler syndrome is occasionally associated with ectopia lentis, retinal detachment

being the most common problem.

4 EhlersDanlos syndrome is occasionally associated with ectopia lentis, scleral fragility,

keratoconus and myopia being more common.

Management
The main complications of ectopia lentis are (a) refractive error (lenticular myopia), (b) optical
distortion due to astigmatism and/or lens edge effect, (c) glaucoma (see Ch. 10) and, rarely,
(d) lens-induced uveitis.
1 Spectacle correction may correct astigmatism induced by lens tilt or edge effect in eyes

with mild subluxation. Aphakic correction may also afford good visual results if a
significant portion of the visual axis is aphakic in the undilated state.
2 Surgical removal of the lens, using closed intraocular microsurgical techniques, is

indicated for intractable ametropia, meridional amblyopia, cataract, lens-induced

glaucoma, uveitis or endothelial touch.

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