Download Ectopia Lentis

Clinical
Ectopia Lentis
P. Gururaj, DNB, Aravind Eye Hospital, Madurai
Introduction
Ectopia lentis is defined as displacement or
malposition of the crystalline lens of the eye.
Berryat described the first reported case of lens
dislocation in 1749, and Stellwag subsequently
coined the term ectopia lentis in 1856 (describing
a patient with congenital lens dislocation).
Disruption or dysfunction of the zonular fibers
of the lens, regardless of cause (trauma or heritable
condition) is the underlying pathophysiology of
ectopia lentis. The degree of zonular impairment
determines the degree of lens displacement.
Management of Ectopia lentis continues to be a
difficult problem for the general ophthalmologist.
Surgery is technically challenging procedure.
The correct timing of surgery to prevent amblyopia
is not known & what percentage of cases cionni
CTR is feasible is also not known. Following
lens removal, several options are available. The
child can be left aphakic or IOL implantation
can be performed. The IOL can be implanted in
the anterior chamber, suture fixated to the Iris,
sclera fixated or implanted in the bag following
cionni CTR implantion. To date, there is no
evidence in the literature as to which of these is
the best approach for paediatric ectopia lentis.
10-0 polypropylene use is controversial. (because
of high risk of spontaneous breakage). Now 9-0
polypropylene is used in all cases. In a paediatric
patient with low hyperopic aphakic refraction, any
form of sutured IOL implantation is difficult to
justify. Keeping all this in mind, our study aimed
to understand the clinical profile, management
strategies and functional outcome of ectopia lentis.
Embryology of lens and zonules
Lens placode, the thickened area of surface
ectoderm from which the lens develops, is
identifiable by 27 days of Gestation (Embryo
4-4.5mm). The lens placode invaginates the sinus
below the surface ectoderm to form a lens vesicle,
which consists of a single layer of cells covered by
a basal lamina.
Primary Lens Fibers
The cells of the posterior wall of the lens vesicle
rapidly elongate and get filled with proteins called
crystalline which make them transparent. These
elongated transparent cells are known as Primary
Lens Fibers. The nuclei of the lens fibers are
present more anteriorly within the cells to form
a line cortex forward called the nuclear bow. The
primary lens fibers are formed upto 3rd month of
gestation and are presented as the compact core of
the lens, known as embryonic nucleus.
Secondary Lens Fibers
The equatorial cells of the anterior lens epithelium
remain active throughout the life and form the so
called secondary lens fibers. Depending upon the
period of development the secondary lens fibers
are named as below:
- Fetal nucleus refers to secondary lens fibers
from 3rd to 8th month of gestation.
- Infantile nucleus refers to secondary lens fibers
formed during the last week of fetal life to
puberty.
- Adult nucleus is formed by the secondary lens
fibers formed after the puberty.
- Cortex consists of the recently formed
superficial secondary lens fibers.
The Lens Zonules
They develop from the neuroectoderm in the
ciliary region. The earliest fibers of the zonular
apparatus are a continuation of the internal
limiting membrane that thickness over the
nonpigmented epithelium of the developing
ciliary processes. They begin to develop at about
10th week of gestation (45 mm stage). Later,
2
zonular fibers are increased in number, strength
and coarseness. By the 5th month of gestation, the
zonules reach the lens and merge with both the
anterior and posterior capsules.
The Anatomy of Ciliary Zonules
The ciliary zonules (zonules of zinn or suspensory
ligaments of lens) consist essentially of a series of
fibers which run from the ciliary body and fuse
into the outer layer of the lens capsule around
the equatorial zone. Thus, they hold the lens in
position and enable the ciliary muscle to act on it.
Structure
The zonular fibers are transparent, stiff and
not elastic. Each zonular fibre has a diameter
of about 0.35 to 1.0µ. It is composed of micro
fibrils with a diameter varying from 8-40nm.
Zonular fibres are composed of glycoproteins and
mucopolysaccharides and are similar in structure
to the micro fibrils of the elastic fibers. Their
susceptibility to hydrolysis by a-chymotrypsin has
been used to advangage in intracapsular cataract
surgery. Structurally, three different types of
zonular fibres have been described.
- First type fibres. These are thick, about 1µ in
diameter, wavy and usually lie near the vitreous
from 3rd to 8th month of gestation.
- Second type fibres. These are thin and flat.
- Third type fibres. These are very fine and run
a circular course.
The fibrils are composed of a non collagenous
glycoprotein containing O and N-linked
oligosaccharides, which explains their positive
histochemical reaction to PAS stain. The zonular
fibers are strongly immunoreactive for fibrillin.
The fibrils resemble elastin in size, tubular
structure, cross reactivity and amino acid profile.
Gross Appearance
Grossly, the ciliary zonules form a complete ring
of fibres, which extend from ciliary body to the
lens equator circumferentially. On cut section the
ciliary zonules appear to be arranged in a triangular
form. The base of the triangle is towards the
equator of the lens and apex towards the ciliary
AECS Illumination
body. The space between the triangle is filled with
the zonular fibres except for a circumferential
space around the equator of the lens between
anterior and posterior zonular fibres – the canal
of Hannover.
Arrangement of zonular fibres
1. Main fibres of the ciliary zonules:
a. Orbiculo posterior capsular fibers
b. Orbiculo anterior capsular fibers
c. Cilio posterior capsular fibers
d. Cilio equatorial fibers
2. Auxillary fibers:
Pathophysiology
Marfan’s Syndrome
Mutations in the gene for fibrillin-1 (FBN 1)
result in the connective tissue disorder Marfan's
Syndrome as well as “simple” Ectopia lentis. FBNI
has been mapped to chromosome 15 q 21.1 micro
fibril abnormalities have been shown to lie behind
the spectrum of diseases produced by FBNI
mutations, collectively termed fibrillinopathies.
They range from the severe condition neonatal
Marfan's Syndrome (usually fatal by age 2) to
simple ectopia lentis which is not associated with
systemic disease.
Zonular fibers are fewer in number, thin,
stretched and irregular in diameter. They are also
inelastic & more easily broken than normal fibers.
The insertion and ultra structure of Zonular fibers
attached to the lens capsule is also abnormal. The
micro fibrils of the fibers are loosely arranged and
disorganized. They exhibit fragmentation and
interbead periodicity.
It was thought that reduced synthesis of
fibrillin combined with proteolytic degradation
of micro fibrils accounts for the variable and
occasionally progressive nature of some of the
clinical manifestations of marfan syndrome.
Fibrillin is a glycoprotein secreted by fibroblasts
that aggregate either alone or in conjunction with
other proteins to form a micro fibrillar network
in extra cellular matrix. The micro fibrillar fibers
serve as scaffolding for deposition of elastin and
Vol. XIV, No.4, October - December 2014
are considered integral components of elastic
elements. Although micro fibrillar structures are
widely distributed, they are particularly abundant
in the Aorto, in ligaments and in the ciliary zonules
that support the lens.
Histopathology
Eyes from patients with Marfan's Syndrome
are often markedly enlarged and show poor
development of the iris dilator muscle,
hypopigmentation or iris pigment epithelium
and elongation of ciliary processes. The bundles
of zonular fibrils are thin, scanty and poorly
aggregated.
Homocystinuria
It is an autosomal recessive disorder that classically
results from a deficiency of cystathionine beta
synthase. Hypothetically the deficiency of
cystathionine beta synthase could decrease the
availability of cysteine for incorporation into
the cysteine rich zonular fibrils. Reduced cross
linking between sulfahydryl groups could lead
to fragmentation and weakening of the zonules.
Histopathologically the zonular fibers have
an abnormal porous sponge like appearance on
scanning electron microscopy, reflecting their
composition of short disoriented fibrils.
Weill – Marchesani Syndrome
Microspherophakia, the classical lenticular finding
in patients with Weill – Marchesani Syndrome
is an inherited disorder of connective tissue of
uncertain cause. The volume of the lens is reduced
by 25 – 40%. Thus the abnormal morphology of
the lens cannot be explained by loss of zonular
traction.
Spherophakia & Microspherophakia
The lens typically appears smaller & more spheric
in configuration when there is partial or total
aplasia of the zonule and when the zonular fibers
fail to exert sufficient traction on the lens capsule.
Sulfite Oxidase Deficiency
Sulfite oxidase is a mitochondrial enzyme that
is necessary for the final degradation of sulfur –
3
containing aminoacids by oxidation of sulfite to
sulfate. Lens dislocation probably occurs because
disulfide linkage are important intramolecular
(and possibly intermolecular) bounds in the
glycoprotein fibrillin, a major constituent of
zonular fibers.
Clinical Features
The most common ocular manifestation of
ectopia lentis is reduction in visual acuity, most
often due to high lenticular myopia. The amount
of visual disturbance varies with type & degree
of displacement and the presence of associated
abnormalities. Four clinical grades of ectopia
lentis are defined by Traboulsi as minimal mild,
moderate & total (dislocation)1.
Minimal subluxation of a lens may cause
no visual symptoms but when the zonules are
disrupted causing increased curvature of the
lens the result may be lenticular myopia and
astigmatism. Ametropic amblyopia produced by
subluxated lens has far reaching consequences
including glaucoma or retinal detachment. Mono
ocular diplopia and photophobia may be present
in some.
Prevalence of ectopia lentis in general
population is not known. The visual outcome
with various modalities of treatment is not clearly
elucidated. Appropriate refractive correction is
often difficult. Surgical indications & techniques
keep changing in each decade. Systemic & ocular
evaluation is necessary to establish the appropriate
prophylactic measures. Ectopia lentis continues to
be a diagnostic & therapeutic challenge for most
ophthalmologists.
Patients with ectopia lentis may be followed for
many years without significant ocular problems.
However ocular complications associated with
displacement of the lens are commonly serious2.
The associated abnormalities include amblyopia,
uveitis, glaucoma, cataract formation and retinal
detachment.
Ectopia of lens may cause visual symptoms
that vary in severity, depending on the position
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of the lens. The lens may remain in its normal
central position, dislocated slightly backwards
with minimal refractive error. Lenticular myopia
may result from increased curvature because of
relaxation or poor complement of the zonules. A
displaced lens may be tilted, causing significant
myopi and astigmatism which are difficult to
correct optically. If the lens is so much displaced
that it occupies only a portion of the puplliary
area, an aphakic correction is necessary. Therefore
early and careful refraction is necessary to avoid
the occurrence of amblyopia2.
Uveitis in ectopia lentis may occur by two
different mechanisms. Iridocyclitis may occur
due to contact irritation between the iris and
ciliary body3. This type of uveitis is often acute,
temporary and recurrent and usually responsive to
topical steroids. A posterior displacement is usually
well tolerated for years provided the lens capsule
is not permeable or rupture, allowing lens protein
to escape. If this occurs, a phacolytic uvetis with
or without a secondary glaucoma might result,
requiring a lens extraction.
Glaucoma is a serious and common
complication of ectopia lentis. The mechanism
of glaucoma varies greatly in these eyes. Glaucoma
may result from outflow obstruction due to
chronic inflammatory cells from lens – induced
uveitis, macrophages from a phacolytic glaucoma
etc. It may also occur from pupillary block as
described in Weill Marchsani syndrome, or
by displacement of the lens into the anterior
chamber2. Iridectomy is often the treatment of
choice; it can prevent or cure the puplillary block
glaucoma and simultaneously provide a clear
optical area.
Although the lens in ectopia lentis may clears
for many years, the gradual development of
cataract is frequent. The lens opacity may be partial
or complete with eventual Morgagnian changes if
it becomes totally displaced posteriorly into the
vitreous2. Besides causing a visual disturbance a
hypermature cataract may also be responsible for
phacolytic glaucoma.
AECS Illumination
Retinal detachment is common and often
phacolytic complications occur in the eye
with ectopia lentis. They have been reported
spontaneously in cases of congenital displacements
of lens regardless of surgery4. Jensen and Cross
have described retinal detachments in the Marfan's
Syndrome and homocystinuria only in eyes with
aphakia or ectopia lentis5. However they found
no significant difference in the frequency of
retinal detachment before and after lens surgery.
Treatment of retinal detachment is often difficult
because the displaced lens may interfere with
visualization of areas of degeneration or tears
responsible for the condition. Jarrett found that
of retinal detachments in a series of 166 cases of
ectopia lentis, only 14 were successfully repaired6.
Classification
Non – Traumatic subluxation of lens may
occur in or in association with systemic and ocular
disorders. According to Nelson LB, Maumenee IH
et al, Ectopia lentis can be classified as
A. Genetic Ectopia lentis without systemic
manifestation
1. Simple ectopia lentis.
2. Ectopia lentis Et pupillae
B. Systemic disorders associated with ectopia
lentis
i. Systemic disorders with commonly associated
ectopia lentis
- Marfans syndrome
- Homocystinuria
- Weill Marchesani syndrome
- Hyperlysinemia
- Sulfite oxidize deficiency
ii. Systemic disorders with rarely associated
ectopia lentis
- Ehlers – Danlos syndrome
- Crouzon disease
- Refsum syndrome
- Kniest syndrome
- Mandibulofacial dysostosis
- Sturge – Weber syndrome
Vol. XIV, No.4, October - December 2014
- Conradi syndrome
- Pfaundler syndrome
- Pierre syndrome
- Wildervanck syndrome
- Sprengel deformity
C. Ocular disorders with ectopia lentis without
hereditary predisposition.
Other ocular conditions have been reported
to occur with ectopia lentis. The most common
is ocular trauma, which was the cause of ectopia
lentis in 53% of cases in one series. Other ocular
abnormalities include retinitis pigmentosa,
persistant papillary membrane, aniridia, Reiger’s
anomaly, megalo cornea, blepharoptosis & high
myopia as well as congenital glaucoma.
A. Genetic Ectopia Lentis without systemic
Manifestation
1. Simple Ectopia Lentis
Simple ectopia lentis occurs either as a congenital
disorder or as a spontaneous disorder of the late
onset type. Both are inherited in the majority of
cases as autosomal dominant without associated
systemic abnormalities. Recessive inheritance
is rare, usually occurring in families in which
consanguinity has been documented7,8. The ocular
anomaly in ectopia lentis is usually manifested
as bilateral symmetrical, upward & temporal
dislocation of the lens. Occasionally the degree of
displacement varies considerably between the two
eyes. Some of the patients may have spherophakia
& lenticular myopia.
Spontaneous late subluxation of lenses occur
in patients between the ages of 20 and 65 years,
There is often marked irregularity & degeneration
of the zonular fibers with subluxation of lens
inferiorly. Herniation of vitreous associated with
zonular degeneration occurs through the zonular
defect into the anterior chamber. Both types of
ectopia lentis may be associated with cataracts
& retinal detachment. Glaucoma usually occurs
in the spontaneous late subluxation type rather
than the congenital type9. Seland & co-workers
described the changes in the zonular fibers from a
5
patient with normal, it was completely devoid of
zonular fibers in most of the areas. The remaining
capsular attachments were under developed.
2. Ectopia Lentis ET Pupillae
Ectopia lentis ET pupillae is a rare congenital
disorder in which there are combined anamoly
of the lens with pupillary displacement. In two
studies in which Ectopia lentis occurred without
systemic anomalies, 81 - 93 % had simple
ectopia lentis & 7 – 19 % had ectopia lentis ET
pupillae11,12.
The pupils are characteristically oval or slit
shaped, ectopia and they dilate poorly10. The
condition is frequently bilateral but asymmetrical.
The lenses & pupil are diplaced in the opposite
direction from each other. Microspherophakia has
been demonstrated histo pathologically13.
Marked trans – illumination defects of the iris
periphery have been reported in six patients with
ectopia lentis Et papillae14. The marfans syndrome
in which ectopia lentis occurs commonly, the iris
Transillumination defects has been documented
clinically 15. They may also have high axial
myopia & large cornea16. As with simple ectopia
lentis cataract formation, glaucoma, & retinal
detachment can occur. Ectopia of lens & pupil
follow a recessive mode of inheritance. How ever
there has been one report suggesting a dominant
in heritance. Consanguinity is frequently reported.
B. Systemic Disorders associated with
Ectopia Lentis
Ectopia lentis may also occur as a common
manifestation of systemic hereditary disorders,
including marfans syndrome, homocystinuria,
Weill Marchesani Syndrome, hyperlysinemia &
sulfite oxidize deficiency.
1. Marfan Syndrome
The prevalence of Marfan syndrome is 4-6 / 100000
people without racial or ethnic predilections. It is
an autosomal dominant condition with variable
expressivity. The first descripition of a patient
with Marfans syndrome was probably made by
elakanoh Williams. He described several members
6
of a family as having upwardly dislocated lenses
& generalized loose jointedness.
The characteristic features include skeletal
cardiovascular & ocular anomalies. Approximately
15% of the cases have no family history and are
presumably derived factor in the occurrence of
the new mutation.
The basic defect in marfans syndrome is not
known still. Since hydroxyl proline is an amino
acid unique to collagen, these findings suggest a
primary defect involving collagen. The increased
hydroxyproline excretion may indicate increase
amount & a rapid rate of evidence of soluble
collagen.
Biochemical evaluation has provided evidence
that an increase in soluble collagen is due to the
defect in the synthetics of type 1 collagen resulting
from qualitative & generative changes of the
alpha 2 chain. The early cross – links of collagen
require alpha 2 chain.
The alteration of this results in increased
collagen solubility & decreased collagen linking
thus an overall reduction in tensile strength.
A low content of type – I collagen in the
media & adventitia of aorta results in a reduction
of its strength which is necessary to withstand the
pulsating blood pressure from the heart. As a result
the aorta expands & dilates leading to gradual
development of an aneurism. Recently reduced
tissue lends of hydroxy lysinenor leuine (skin) &
3 hydrozy pyridonium (aorta) were demonstrated
in patients with Marfans Syndrome.
These abnormalities may result in a
misalignment of some of the collagen fibrils
involving the alpha – 2 chain causing a disturbance
in the specific inter molecular cross - linking
during the organization of type. 1 : 111 collagen.
Skeletal Manifestations
Abnormalities of the skeletal system include
excessive height caused by increased length of
distal limbs (arachnodactly), loose jointedness,
scoliosis, and anterior chest deformities. The
skeletal proportions demonstrate an increased arm
AECS Illumination
span in relation to body height and an elongated
lower segment (pubis to sole) compared to
upper segment (pubis to vertex)17. The absolute
height is not as important as the patients relative
height, given the family background. These
patients tend to be the tallest in their families.
Scoliosis is generally severe and the most disabling
complication. It often worsens during the
adolescent growth spurt. Attempts have been made
to shorten this growth spurt and thereby reduce
the severity of the scoliosis.
Cardiovascular Manifestations
The major cardiovascular complications of aortic
aneurysm and floppy mitral valve were described
as early as 1943. The vascular tissues involved
are those under high vasodynamic stress such as
ascending aorta and the mitral valves. The aortic
dilatation usually begins at the base and may be
progressive.
The average life expectancy is halved in
Marfan ‘s syndrome. In over 95 % of cases
in which a cause of death can be established,
a cardiovascular problem is at fault 18 . An
echocardiogram should be obtained annually.
If aortic dilatation is demonstrated prophylactic
propranolol is recommended to reduce myocardial
contractility in an attempt to stay progression of
aortic dialatation and to prevent acute dissection
of aorta. Although the initial trials of propranolol
treatment were disappointing new randomized
trails have begun. Improved prosthesis and
surgical techniques have lowered the morbidity
and mortality.
Patients with Marfan's Syndrome are at an
increased risk for developing endocarditis and
should receive antibiotic prophylaxis with dental
or surgical procedures. It is recommended by some
investigators that patients should not participate
in contact sports, isometric exercises, and weight
lifting. Since there is an increased risk of vascular
rupture during and shortly after pregnancy,
women with echocardiographic evidence of aortic
dilatation are advised against pregnancy.
Vol. XIV, No.4, October - December 2014
Ocular Manifestations
An appearance of enophthalmos, especially in
severely affected children, may be caused by
reduced retrobulbar fat. Many patients present
with a facial myopathic appearance as a result
of reduced subcutaneous fat, flat malar areas,
hypoplastic facial muscle areas and some degree
of frontal bossing.
In the young age group. reduced visual
acuity often resuts from delayed and inadequate
refraction with the inevitable development of
amblyopia, which is often bilateral. Among the
Marfan's Syndrome patients there is a much high
incidence of refractive errors, than is found in the
normal population. Moderate to high myopia is
commonly seen. The corneal diameter may be
increased giving the appearance of megalocornea
Iris morphology is often striking. The anterior
Iris surface is homogeneous with reduced number
of circumferential ridges, furrows & crypts; thus
it has a smooth velvety appearance.
Iris transillumination defects are more marked
at its base and occurs in approximately 10% of
the patients.
Commonly pupil is miotic & difficult to
dilate, occasionally pupil is eccentric.
The presence of angle anomalies like bridging
pectinate strands, In conspicuous Schwalbe's line,
irregularity & fraying of the iris root – have been
described.
Ectopia lentis occurs in 50 – 80% of patients
with Marfan's Syndrome. It is almost always
bilateral & symmetrical. Usually the amount of
dislocation is stable from early childhood. The
direction is most commonly superotemporal.
The lens may be slightly displaced backwards or
vertically & horizontally.
Myopic changes & retinal detachments
are two retinal findings in Marfan's Syndrome
patients. The peripheral retinal changes include,
Lattice degeneration & retinal holes. In eye with
ectopia lens, retinal detachments have occurred
both spontaneously & following intraocular
surgeries.
7
The mean axial length measurements for
Marfan's Syndrome patients without ectopia
lentis was 39 mm & for those with dislocated,
25.06 mm. No patients with a normal axial length
developed a spontaneous detachment.
Histopathological studies of eye with Marfan's
Syndrome patients have shown hypopigmentation
of the posterior iris pigment epithelial layer.
The sparsely developed dilator muscle seems
to account for poor dilatation of the pupil.
Table 1: Ocular Manifestation of Marfan’s syndrome
Refractive errors
Ectopia lentis
Megalocornea
Retinal detachment
Iris transillumination Higher axial lengths
Angle abnormalities
The zonular & ciliary epithelium may appear
normal by light microscopy. However on scan
electron microscopy widespread separation of
the zonular fibers into a fan of filaments with
attenuation towards the lens capsule has been
demonstrated.
2. Homocystinuria
Homocystinuria is a disease of methionine
metabolisim. It is due to a deficiency of the
enzyme cystathoionine synthase. Affected patients
have elevated blood levels of homocystine and
methionine, and will also have amino aciduria (i.e.
homocystine). The prevalence of this disorder is 1
out of 200, 000 births. Like Marfan’s it affects the
ocular, cardiovascular and skeletal systems.
Ocular
The ocular abnormalities do not clearly differentiate
homocystinuria from Marfan's Syndrome. Ectopia
lentis, myopia, retinal detachment, and secondary
glaucoma occur in both. Mckusick suggested that
lenses are most likely to be displaced upwards
in Marfan's and downward in homocystinuria.
In contradistinction to Marfan's Syndrome, the
zonules are markedly abnormal; the lens cannot
accommodate. In addition, approximately one
– third of the lenses are eventually completely
8
dislocated into the vitreous or anterior chamber.
In marfan’s the subluxation is relatively stable
and complete subluxation rarely occurs. Marfan’s
dislocation is usually symmetrical and occurs in
approximately 90% of patients. Anomalies of the
iridocorneal angle have not been described in
homocystinuria and may be unique to Marfan’s.
Systemic / Cardiovascular
The cardiovascular complications are secondary to
thrombosis and occlusion, mainly of medium sized
arteries and venis. Cerebrovascular thrombosis,
myocardial infraction, pulmonary emboli,
intermittent claudication and even death at a
relatively young age often result. Anesthesia holds
a higher risk for patients with homocystinuria
because of the possibility of thromboembolic
disease.
Skeletal
Arachnodactyly to the degree seen in Marfan’s is
unusual ; however, scoliosis, pectus excacavatum,
and joint laxity are seen. Hernias have been
described with homocystinuria as well. Patients
with homocystinuria are often tall with a malar
flush and light colored hair. Mental retardation
is frequently present with this condition (in
contract to Marfan’s), but it is not an invariable
manifestation. Infants may fail to thrive and may
be developmentally delayed.
3.Weill – Marchesani Syndrome
(Spherophakia – Brachymorphia)
Weill – Marchesani syndrome is a rare disease,
with unclear inheritance patterns, Most cases are
felt to be autosomal recessive; however, autosomal
dominant cases have reported. Both sexes are
affected equally. Ocular and skeletal abnormalities
are characteristic of this disorder.
Ocular
The lens in Weill- Marchesani is microspherophakic,
being typical small and round. The small steep lens
results in lenticular myopia. Subluxation occurs in
virtually 100 % of cases with over 90% progressing
to dislocation by adulthood. Upon dislocation the
AECS Illumination
lens shifts anteriorly, which results in papillary
block glaucoma in approximately 80% of cases.
Acute bilateral papillary block and secondary angle
closure after papillary dilatation have been reported
as the presenting sign in a patient with previously
undiagnosed Weill – Marchesani syndrome. The
typical skeletal findings of brachymorphia may
be subtle, so suspect Marchesani syndrome in
children who present with unilateral or bilateral
angle pupillary block glaucoma. Not infrequently
the lens will completely dislocate into the anterior
chamber19.
Skeletal
Weill - Marchesani Syndrome includes systemic
findings of brachiocephaly, short build, broad
thorax, brachiodactyly and hypo – extendible
joints. In cases where the diagnosis is in questions
roentgenographic measurements of the hands are
helpful.
4. Spherophakia
Spherophakia is a condition where the lens
diameter is relatively small; however, there is
increased lens thickness. The lens curvature is
quite steep and therefore these patients have
lenticular myopia. Spherophakia can occur as an
isolated anomaly or be in association with the
Weill Marchesani Syndrome.
5. Sulfite Oxidase Deficiency
Sulfite oxidase deficiency is an extremely rare
metabolic disorder. Sulfite is an important
intermediary compound in the metabolic pathway
from sulfur amino acids to sulfate. In sulfite
oxidase deficiency, sulfite cannot be converted into
sulfate; hence increased amounts of its metabolities
are excreted in the urine.
Systemic
Patients with sulfite oxidase deficiency may present
with hemiplegia progressive choreoathetoid
movements, and / or seizures in addition to
dislocated lens. The neuropathology reveals
atrophic cortical gyri, which is most severe in the
parital area and less marked in the frontal area20.
Vol. XIV, No.4, October - December 2014
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