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SIMPLE ECTOPIA LENTIS: A CASE REPORT.

Article in Optometry and vision science: official publication of the American Academy of Optometry · December 2001
DOI: 10.1097/00006324-200112001-00292

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 Simple Ectopia Lentis: A Case Report

Muriel M. Schornack, O.D. and Douglas T. Edwards, M.D.

Mayo Clinic, Rochester, Minnesota
 Background
Ectopia lentis (dislocation of the crystalline lens) was first
described over 200 years ago. Prevalence of the condition is
approximately 6.4/100,000. Ectopia lentis can either occur as an
isolated ocular finding, or can be associated with a systemic
disease. The two most common forms of ectopia lentis without
systemic manifestations are simple ectopia lentis and ectopia
lentis et pupillae. A majority of patients with ectopia lentis have
been found to have an underlying systemic disorder. Marfan
syndrome, homocystinuria, Weill-Marchesani syndrome, sulfite
oxidase deficiency, and hyperlysinemia are associated with
ectopia lentis.
 Case Report
Pertinent History:
BL, a 26 year old female, presented to the Mayo Clinic
Department of Ophthalmology for a general eye examination. She
reported gradually decreasing vision in her right eye more than
her left since her pregnancy one year prior to her examination.
Her pregnancy and delivery had been uncomplicated. She had
been told that her right eye was “weaker” than her left at previous
eye examinations, but had not undergone eye surgery or eye
patching. Her medical history was unremarkable. She was taking
no medications, and reported no allergies. Her family medical
history was also unremarkable.
Health Assessment:

BL was of average height. She did not report unusually loose

joints. Her fingers appeared to be of normal length.

No external ocular abnormalities were noted. BL’s lid margins

were not inflamed, and her lashes were free of debris. No
conjunctival chemosis or injection was noted. The sclera was
white and quiet. The corneas were clear and compact. Mild
corneal endothelial pigment deposits, which resembled a
Krukenberg’s spindle, were present in the left eye. The anterior
chambers in both eyes were of normal depth, and no signs of
ocular inflammation were present. Her rises were blue, with no
stromal or pigment disturbances. The pupils were round, equal in
size, and equally reactive to light. No relative afferent pupillary
defect was noted. BL’s ocular motility was normal in both eyes.
Her confrontation fields showed no visual field constriction in
either eye.
The intraocular pressure was 20 mmHg OD and 21 mmHg OS at
2:00 pm by Goldmann applanation tonometry. Both eyes were
dilated with 1% tropicamide.

After dilation, BL’s crystalline lenses were found to be displaced

inferiorly in both eyes. The superior equator of the right lens was
visible below the pupillary margin after dilation. The iris covered
the entire left lens even after dilation, but Y-sutures were
displaced inferiorly. Lens capsules were intact in both eyes. (See
photos)

The vitreous was clear. The cup to disc ratio in both eyes was
.2/.2. The disc margins were distinct. No pallor was noted in
either eye. Foveal reflexes were present in both eyes. Retinal
vasculature was of normal caliber. No angioid streaks or posterior
staphyloma were present. The retina was flat and intact
throughout the periphery in both eyes.
Refractive Condition:

BL’s prior spectacle prescription was:

OD: -1.75 + 1.25 X 095
OS: -3.00 + 1.75 X 120
With this prescription, her visual acuity was 20/60 OD and 20/30
OS. Pinhole visual acuity was 20/50 OD and 20/25 OS.

The current refraction was:

OD: -1.75 + 1.75 X 090
OS: -2.25 + 1.50 X 135
With this prescription, BL’s vision was 20/50 OD and 20/20-1 OS.

The corneal curvature was also measured by keratometry. The

mires were clear and undistorted. The following results were
obtained:
OD: 44.50 @ 160, 46.25 @ 070
OS: 44.75 @ 175, 46.25 @ 085
BL’s corneal curvature is consistent with with-the-rule astigmatism
of approximately 1.25 to 1.75 diopters in both eyes. The
magnitude of cylindrical refractive error was accurately reflected in
corneal toricity. However, the axis of cylindrical correction for BL’s
left eye was oblique. Cover testing through her current spectacles
showed orthophoria at distance and near.
Supplementary Pertinent Data:

Dr. DE ordered serum and urine tests to rule out metabolic

disorders (homocystinuria and Weill-Marchesani syndrome).
Results were normal.

BL was scheduled for consultation with a medical geneticist. Dr.

VM examined BL on December 15. At that time, BL reported that
she had noted iridodonesis as early as junior high school. She
reported that she was of average height for her family. She
reported overall good health. No cardiac or pulmonary
abnormalities were reported. Dr. VM noted no marfanoid
characteristics. Dr. VM recommended an echocardiogram to rule
out dilation of the aorta. Ophthalmologic evaluation of family
members was also recommended.
An echocardiogram was performed on December 18, 200. Dr. VM
saw BL again on December 19 to review the results. No evidence
of Marfan syndrome was seen on echocardiogram. Dr. VM
recommended that echocardiograms be repeated every 5 years,
or prior to another pregnancy. She also recommended that BL
seek prompt medical attention if she developed shortness of
breath, chest pain, pain that radiates into her back, or severe
abdominal pain of unknown cause. If any family members were
found to have ectopia lentis, echocardiograms were
recommended for them, as well. BL was encouraged to schedule
annual appointments in the Ophthalmology department because
of the risk of glaucoma, cataracts, and retinal detachment.

BL’s parents and brother were evaluated in the Ophthalmology

department, and no evidence of ectopia lentis was found.
 Discussion
Ectopia lentis can occur with or without systemic manifestations.
Figure 1 demonstrates the nosologic characteristics of ectopia
lentis as reported by Fuchs and Rosenberg1. There are two
primary forms of ectopia lentis without systemic manifestations.
Simple ectopia lentis can occur as a congenital condition, or may
appear spontaneously later in life. Both forms of the disorder are
usually inherited as autosomal dominant conditions. Ectopia lentis
et pupillae is a rare congenital disorder in which lens dislocation is
combined with ectopic slit-shaped or oval pupils. Both simple
ectopia lentis and ectopia lentis et pupillae are associated with
cataract formation, glaucoma, and retinal detachment.

Systemic disorders commonly associated with ectopia lentis

include Marfan syndrome, homocystinuria, Weill-Marchesani
syndrome, hyperlysinemia, and sulfite oxidase deficiency.
Marfan syndrome is an autosomal dominant condition
characterized by skeletal, cardiovascular, and ocular
abnormalities. The primary defect involves abnormal collagen
production and stability. Patients are frequently tall compared with
other family members. Arachnodactyly, loose-jointedness,
scoliosis, and chest deformities are characteristic of the condition.
The major cardiovascular complications associated with Marfan
syndrome are aortic dilatation, dissecting aortic aneurysm, and
“floppy mitral valve”. Cardiovascular abnormalities can be life-
threatening if not appropriately identified and treated. Ocular
manifestations include amblyopia, moderate to high myopia,
abnormally flat cornea, hypoplastic iris or ciliary body muscle,
retinal detachment, and increased axial length of the globe. The
diagnosis of Marfan syndrome is made based on the presence of
certain criteria in the skeletal, ocular, cardiovascular, pulmonary,
or integumentary systems. In a case in which there is no known
family history of Marfan syndrome, the diagnosis can be made
even in the absence of musculoskeletal involvement.
Homocystinuria is an inborn error of amino acid metabolism. It is
inherited through an autosomal recessive pattern. It is also
characterized by skeletal, cardiovascular, and ocular
abnormalities. In addition, mental retardation is present in
approximately 50% of cases. Excessive height, osteoporosis with
vertebral collapse, scoliosis, deformities of the anterior chest, and
mild limitation of joint mobility are associated with homocystinuria.
Cardiovascular abnormalities include intimal and endothelial
changes, disruption of elastic lamellae, and partial or complete
obstruction of vessels of all sizes in a number of organs. These
changes can lead to fatal vascular occlusion in relatively young
individuals. Ectopia lentis is the most common ocular
manifestation of the disease, and can be detected in
approximately 90% of patients. Unlike the stable ectopia lentis
associated with Marfan syndrome, ectopia lentis is acquired and
progressive in homocystinuria.
Weill-Marchesani syndrome is rarer than either Marfan syndrome
or homocystinuria. Its diagnostic characteristics are bradydactyly
and microspherophakia. No metabolic defect has been identified
for this condition. The syndrome is certainly familial, but the exact
pattern of inheritance is unclear. Skeletal abnormalities are the
opposite of those seen in Marfan syndrome: these patients are
short, and have limited joint mobility. Microspherophakia is a
prerequisite clinical finding to a diagnosis of Weill-Marchesani
syndrome. Progressive myopia is frequently present prior to the
development of ectopia lentis.

Ectopia lentis has also been reported in association with

hyperlysinemia and sulfite oxidase deficiency. Both of these
conditions are rare, and are associated with mental retardation.
 Optometric
Treatment/Management:
Polycarbonate spectacles were prescribed to protect BL’s eyes
from accidental trauma and to correct her refractive error. We
were not able to definitively determine the cause of the amblyopia
in her right eye. No strabismus was identified, but BL did report
that her right eye had been “weaker” than her left for some time.
BL may well have been hyperopic as a young child. Greater
dislocation of the lens in BL’s right eye than in her left is probably
a sign of relative zonular weakness in the right eye. Hyperopia
combined with asymmetric accommodative response during the
critical period of visual development could have led to the
development of anisometropic amblyopia in her right eye.
BL was diagnosed with simple ectopia lentis. Blood tests,
urinalysis, and an echocardiogram ruled out homocystinuria and
Marfan syndrome. Other members of her family were also
examined for any signs of ectopia lentis. No other immediate
family members were affected. BL was advised to have annual
eye examinations. Because retinal detachment can be associated
with ectopia lentis, BL was informed of the signs and symptoms of
retinal detachment, and was instructed to seek care immediately if
signs were noted. She was also instructed to wear safety glasses
when participating in activities during which eye injury was
possible.

In BL’s case, ectopia lentis was not associated with a systemic

condition. A majority of patients with ectopia lentis do have an
underlying systemic condition. Early identification of the
underlying condition and its additional manifestations may allow
appropriate intervention and prolongation of life in these patients.
 Bibliography:
1. Nelson LB, Maumenee IH. Ectopia lentis. Surv Ophthalmol
1982:(27(3);143-60.

2. Fuchs J, Rosenberg T. Congenital ectopia lentis: a Danish

national survey. Acta Ophthalmol Scand 1998:76(1);20-6.

3. Tsipouras P, Silverman DI. The genetic basis of aortic

disease. Marfan syndrome and beyond. Cardiol Clin
1999:17(4);683-96.

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