Lens- congenital

anomalies,

abnormalities and

cataract

Wojciech Lubiński

Congenital aphakia

• very rare anomaly
• primary
• secondary( the more common type-

usually with other malformation of
the eye)

Lenticonus and lenticlobus

• Lenticonus- cone- shaped

deformation of the anterior and
posterior(the most common) lens
surface

• Usually unilateral
• Anterior lenticonus often bilateral,

may be associated with Alport
syndrome

Lentiglobus

• Localized deformation of the lens

surface

• The most common posterior

lentiglobus

• Cause of myopia
• May progress
• Often with posterior pole opacities

Lens coloboma

• Anomaly of the lens shape
• Primary- isolated anomaly
• Secondary-with lack of ciliary body or

zonular development

• Typically inferiorly
• May be associated with uveal coloboma

and cortical lens opacification

Mittendorf dot

• Hyaloid corpuscule- common

anomaly in many healthy eyes.

• Dense white spot inferonasally to the

posterior pole of the lens

• The place where the hyaloid artery

had the contact with the lens in utero

• Sometimes associated with remnant

of hyaloid artery

Epicapsular star

• Remnant of tunica vasculosa lentis
• Thiny brown or golden flecks onthe

central

anterior lens capsule

Peters Anomaly

• Anterior segment dysgenesis

syndrome:

• Corneal leucoma
• Adhesions between lens and cornea
• Anterior cortical or polar cataract
• Misshapen lens displaced anteriorly
• microspherophakia

Microspherophakia

• Lens small in diameter and spherical in

shape

• Highly myopic, cause angle-closure

galucoma

• Isolated or in association with Peters

anomaly, Marfan syndrome, Alport
syndrome, Lowe syndrome, congenital
rubella

• Most often as a part of Weil –Marchesani

syndrome

Aniridia

• Almost always bilateral associated with:
• Corneal pannus,epitheliopathy,glaucoma,
foveal and optic nerve hypoplasia, nystagmus
-familial (2/3)
- Sporadic –high incidence of Wilms tumor or

WAGR complex(Wilms tumor, aniridia,
genitourinary malformations, mental
retardation

- 50-85% of patients- lens opacities

Cataract

– definition

Cataract

– definition



the lens loses its optical clarity

for any reasons



the light does not focus properly

on the retina

Cataract

– symptoms

Cataract

– symptoms



Painless



Blurry vision



Glare



Halos



Decreased night vision



Color vision disturbances



Double vision



Need for brighter light when

reading



Frequent changes in eyeglass

prescriptions

Congenital and infantile

cataract

• Congenital cataract- lens opacity at birth

• Infantile cataract-lens opacity at first year of

life

• 1:2000 live births

• May be stable or progressive, unilateral or

bilateral

• 1/3 of cataract associated with other diseases

syndromes

• 1/3 of cataract has inherited trait

• 1/3 of cataract has undetermined causes

• Metabolic diseases – more commonly bilateral

cataract

Morphologic classification of

congenital and infantile

cataracts

• Polar- opacities in subcapsular cortex and

lens capsule

• Anterior- AD, small, bilateral,

symetric , nonprogressive
opacities, do not impair vision

• Posterior- can cause of visual

impairement, usually stable,
sporadic or familial

Morphologic classification of

congenital and infantile

cataracts

• Sutural- (stellate)-opacification of

theY –sutures of the fetal nucleus-
does not impair vision

• Bilateral, symmetric- frequently AD.

Morphologic classification of

congenital and infantile

cataracts

• Coronary- cortex opacities around

lens equator

• Do not affect visual acuity, often AD

Morphologic classification of

congenital and infantile

cataracts

• Cerulean- bluish opacities in the

lens cortex

• Nonprogressive, do not affect visual

acuity

Morphologic classification of

congenital and infantile

cataracts

• Nuclear-opacities in the nucleus
• Usually bilateral
• Wide spectrum of severity
• Tendency to small eye

Morphologic classification of

congenital and infantile

cataracts

• Capsular- small opacifcations of the

lens epithelium and anterior lens
capsule

• Do not cause of visual symptoms

Morphologic classification of

congenital and infantile

cataracts

• Lammelar or zonular cataract-
• The most common type!!!!
• Bilateral,symmetric, can cause of visual

impairment, may be AD

• Opacified fetal nucleus

with clear center, disc
shaped configuration,

• Horseshoe- shaped

opacities

Morphologic classification of

congenital and infantile

cataracts

• Complete or total-
• Unilateral or bilateral
• Profound visual impairment

Morphologic classification of

congenital and infantile

cataracts

• Membranous
• Lens protein are resorbed
• Anterior and posterior

capsules to fuse in to
dense white membrane

• Significant visual disability

Rubella cataract

• Rubella –
• Virus infection, first trimester of

pregnancy

• White, nuclear opacification
• Rubella sydrome- cataract , diffuse

pigmentary
retinopathy,microphthalmos,glaucoma,
transient or permanent corneal
clouding

Developmental defects

• Ectopia lentis- displacement of the

lens

• Congenital, developmental,

acquired(trauma)

• luxated, subluxated, dislocated lens

• Nontraumatic ectopia lentis is associated

with:

• Marfan syndrome
• Homocystinuria
• Aniridia
• Congenital glaucoma
• Ehlers-Danlos syndrome
• Hyperlisinemia
• Sulfite oxidase deficiency
• Isolated-usually AD

Marfan Syndrome

• Usually AD
• Tall, arachnodactylly, chest wall

abnormalities,dilated aortic root, mitral

valve prolapse

• 50-80%- ectopia lentis- subluxation
• Axial myopia,↑risk of RD
• Risk of glaucoma and amblyopia
• Lens extraction- high rate of complications

Drug- induced cataract

• Corticosteroids- PSC
• After systemic, topical,subconjuctival

administration, nasal sprays

• Phenotiazines- (chlorpromazine,

thioridazine)

• Pigmented depositsin the anterior lens

epithelium

Drug- induced cataract

• Miotics
• 20% of patients after 55 months of pilocarpine
• Usualy small vacuoles,later posterior cortical

and nuclear opacities

• Amiodarone
• Stellate anterior axial deposits-usually visually

not significant

• Statins
• Simvastatin- 2-3 fold increased risk of cataract

Trauma

• Mechanical injury
• Physical forces(radiation, electrical

current,chemicals

• Osmotic influences( diabetes

mellitus)

Contusion

• Vossius ring- blunt trauma , pigment

on the anterior surface of the lens,
no visual impairment

• Traumatic cataract-usually stellate or

rosette shaped opacification involves
the posterior capsule

Contusion

• Dislocation and subluxation

Contusion

• Perforating and penetrating injury
• Usually complete opacification
• Occasionally focal cortical cataract

Radiation- induced cataracts

• Ionizing radiation- lens extremely

sensitive

• From initially punctate opacities to

complete cataract

• Infrared radiation- (glassblower’s

cataract)

Ultraviolet radiation- UV-B(290-320

nm)-↑risk of cortical and subcapsular

cataract

Microvawe radiation- controversial

Chemical injuries

• Alkali injury- cortical cataract

formation acute or delayed

Intralenticular foreign body

• Nonmetalic- cataract can be only

focal

• Ferric or cupric foreign body- always

significant cataract

Metallosis

• Siderosis bulbi-

cortical cataract

formation

• Chalcosis- sunflower cataract-usually

no significant loss of visual acuity

Electrical injury

• Electrical shock-protein coagulation-

cataract

Metabolic cataract

• Diabetes mellitus-snowflake or

senescent cataract, transient myopic
shift, ↓amplitude of accomodation

Metabolic cataract

• Galactosemia- AR inability to

convert galactose to
glucose( malnutrition,
hepatomegaly,jaundice,mental
deficiency)

• 75% develop cataract (oil droplet)

after birth

Metabolic cataract

• Hypocalcemia(tetanic cataract)
• Idiopathic or destruction of

parathyroid glands during thyroid
surgery

• Punctate opacities in the anterior and

posterior cortex; may evolve to
complete cortical cataract

Metabolic cataract

• Wilson disease(hepatolenticular

degeneration)

• AR disorder of cooper metabolism
• Sunflower cataract, Kayser –Fleischer

ring

Metabolic cataract

• Myotonic dystrophy
• AD,males relaxation of contracted

muscles, ptosis,weakness of the facial
musculature, cardiac conduction defect,

• Polychromatic cristals

in the lens cortex
progressing to complete
cortical cataract

Cataract associated with

uveitis

• Chronic uveitis –PSC
• Fuch heterochromic uveitis- 70% of

patients – cortical cataract

Exfoliation syndromes

• True exfoliation of the lens- glassblowers(infrared

radiation)

• Exfoliation syndrome(pseudoexfoliation)-

fibrillogranular ,white deposits on he lens, iris,
anterior hyaloid face, ciliary processes,zonular
fibers, trabecular meshwork( open angle
glaucoma), unilateral or bilateral

• Lens- ↑prevalence of senescent cataract, lens

subluxation, phacodonesis