Ectopia Lentis

Ectopia lentis is a displacement of the lens that may be congenital, developmental, or

acquired. A subluxated lens is partially displaced from its normal position but remains
in the pupillary area. A luxated, or dislocated, lens is completely displaced from the pupil,
implying separation of all zonular attachments. Findings associated with lens subluxation
include decreased vision, marked astigmatism, monocular diplopia, and iridodonesis
(tremulous iris). Potential complications of ectopia lentis include cataract and
36 Lens and Cataract
displacement of the lens into the anterior chamber or into the vitreous. Dislocation into
the anterior chamber or pupil may cause pupillary block and angle-closure glaucoma.
Dislocation of the lens posteriorly into the vitreous cavity often has no adverse sequelae
aside from a profound change in refractive error.
Trauma is the most common cause of acquired lens displacement. Nontraumatic ectopia
len tis is commonly associated with Marfan syndrome, homocystinuria, aniridia, and
congenital glaucoma. Less frequently, it appears with Ehlers-Danlos syndrome, hyperlysinemia,
and sulfite oxidase deficiency. Ectopia len tis may occur as an isolated anomaly
(simple ectopia lentis), usually inherited as an autosomal dominant trait. Ectopia lentis
can also be associated with pupillary abnormalities in the ocular syndrome ectopia lentis
et pupillae (discussed later in this chapter) .
Marian syndrome
Marfan syndrome is a heritable disorder with ocular, cardiac, and skeletal manifestations.
Though usually inherited as an autosomal dominant trait, the disorder appears with no
family history in approximately 15% of cases. Marfan syndrome is caused by mutations
in the fibrillin gene on chromosome 15. Affected individuals are tall, with arachnodactyly
(Fig 3-15A) and chest wall deformities. Associated cardiac abnormalities include dilated
aortic root and mitral valve prolapse.
From 50% to 80% of patients with Marfan syndrome exhibit ectopia lentis (Fig 3-15B).
The lens subluxation tends to be bilateral and symmetric (usually superior and temporal),
but variations do occur. The zonular attachments commonly remain intact but become
stretched and elongated. Ectopia lentis in Marfan syndrome is probably congenital in
most cases. Progression oflens subluxation is observed in some patients over time, but in
many patients the lens position remains stable.
Ocular abnormalities associated with Marfan syndrome include axial myopia and an
increased risk of retinal detachment. Patients with Marfan syndrome may develop pupillary
block glaucoma if the lens dislocates into the pupil or anterior chamber. Open-angle
glaucoma may also occur. In addition, children with lens subluxation may develop amblyopia
if their refractive error shows significant asymmetry or remains uncorrected in
early childhood.
A8
Figure 3-15 Marfan syndrome. A, Arachnodactyly in a patient with Marfan syndrome. B, Subluxated
lens in Marfan syndrome. (Part A courtesy of Karla J. Johns, MD.)
CHAPTER 3: Embryology and Developmental Defects 37
Spectacle or contact lens correction of the refractive error provides satisfactory visual
acuity in most cases. Pupillary dilation is sometimes helpful. The clinician may refract
both the phakic and the aphakic portions of the pupil to determine the optimum
visual acuity. A reading add is often necessary because the subluxated lens lacks sufficient
accommodation.
In some cases, adequate visual acuity cannot be obtained with spectacle or contact
lens correction, and removal of the lens may be indicated. Lens extraction-either extracapsular
or intracapsular- in patients with Marfan syndrome is associated with a high
rate of complications such as vitreous loss and complex retinal detachment. (Intracapsular
and extracapsular cataract extraction are discussed in detail in Chapter 7.) Improved results
have been reported with lensectomy using vitrectomy instrumentation, although the
long-term results are not yet known. Pooyan 66961526-7
Homocystinuria
Homocystinuria is an autosomal recessive disorder, an inborn error of methionine metabolism.
Serum levels of homocystine and methionine are elevated. Affected individuals
are healthy at birth but develop seizures and osteoporosis and soon display mental disability.
They are usually tall and have light-colored hair. Patients with homocystinuria are
also prone to thromboembolic episodes, and surgery and general anesthesia are thought
to increase the risk of thromboembolism.
Lens dislocation in homocystinuria tends to be bilateral and symmetric. The dislocation
appears in infancy in approximately 30% of affected individuals, and by the age
of 15 years, it appears in 80% of those affected. The lenses are usually subluxated inferiorly
and nasally, but variations have been reported. Because zonular fibers of the lens are
known to have a high concentration of cysteine, deficiency of cysteine is thought to dis turb
normal zonular development; affected fibers tend to be brittle and easily disrupted.
Studies of infants with homocystinuria treated with a low-methionine, high-cysteine diet
and vitamin supplementation with the coenzyme pyridoxine (vitamin B6) have shown
that this therapy holds promise in reducing the incidence of ectopia lentis. (See also BCSC
Section 6, Pediatric Ophthalmology and Strabismus.)
Hyperlysinemia
Hyperlysinemia, an inborn error of metabolism of the amino acid lysine, is associated with
ectopia len tis. Affected individuals also show mental disability and muscular hypotony.