MICROCORNEA, MACROCORNEA

AND MICROPHTHALMOS

Grandson Kelvin Jere

Lecturer – Optometrist
LMMU
 INTRODUCTION
• The normal average diameter of the adult
cornea is 11.5mm (10–13 mm).
• A congenitally small cornea (microcornea,
diameter less than 10.0mm) or;
• a congenitally large cornea (megalocornea,
diameter from 13 to 15mm) is always an abnormal
finding.
• Corneal size anomalies are usually congenital and
on the whole are rare.
• Combinations of microcornea and megalocornea
together with other ocular deformities may also
occur
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Introduction
• Congenital corneal anomaly
• Either bilateral or unilateral
• Can be hereditary with a dominant or
recessive trait.
• Dominant transmission is more common
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Introduction
• Generally seen with microphthalmos but it
can be seen in a normal eye also.
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Clinical Features
• Diameter is 10mm or less (HVID)
• Thin and flat cornea
• Anterior chamber shallow
• Usually hypermetropic due to corneal
curvature
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Pathophysiology
It is due to arrest of corneal development
after fifth week of development.
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Complications
• Incidence of angle closure glaucoma
increases, and;
• 20% of the patients develop primary open
angle glaucoma later in life.
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Ocular Associations
1. Persistent hyperplastic primary vitreous
2. Anterior segment dysgenesis
3. Optic nerve hypoplasia
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Ocular Associations
1. Persistent hyperplastic primary vitreous,
also known as persistent fetal vasculature
- PHPV is characterized by retrolental mass
into which elongated ciliary processes are
inserted.
- It typically occurs in microphthalmic eye.
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Ocular Associations
2. Optic nerve hypoplasia
- Unilateral or bilateral condition
- Characterized by diminished number of
optic nerve fibres.
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Systemic Associations
1.Myotonic dystrophy
2.Fetal alcohol syndrome( growth, mental, and
physical problem)
3.Achondroplasia (disorder of bone growth
causing dwarfism)
4.Ehler Danlos syndrome ( extremely loose
joints, hyperelastic skin that bruises easily,
and easily damaged blood vessels)
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Systemic Associations
5. Rubella
6. Weil marchesani syndrome
7. Waardenburg syndrome
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Systemic Associations
1.Myotonic dystrophy
- Peripheral muscle involvement
- Mournful expression
- Slurred speech
- Presenile cataracts
- ptosis
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Systemic Associations
2.Myotonic dystrophy
- Pigmentary retinopathy
- Light near dissociation of pupillary reflexes
- Low intra ocular pressure
- External ophthalmoplegia
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Systemic Associations
3. Ehler Danlos syndrome
- Retinal detachment
- Blue sclera
- Lens subluxation
- Epicanthic folds
- Keratoconus
- High myopia
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3.Rubella - Pendular nystagmus
- Retinopathy - strabismus
- Cataract
- Microphthalmos
- Glaucoma
- Corneal haze
- Iritis
- Iris atrophy
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Systemic Associations
4. Weil marschesani syndrome
- Systemic connective tissue disorder
- Dystrophia mesodermalis hyperplasia
- Microspherophakia
- Lens subluxation
- Angle anomaly
- Retinal detachment
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Evaluation
1. Systemic history and birth history
2. Vision
3. Refraction
4. Slit lamp examination of anterior segment
5. Keratometry
6. Topography
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Evaluation
7. Corneal sensitivity
8. HVID and VVID
9. A scan
10.Intra ocular pressure
11.Gonioscopy
12.Pachymetry
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Treatment
• Correction of refractive error.
• Treatment of any other abnormalities if
present.
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Introduction
• Also known as megalo-cornea.
• It is a non progressive corneal
enlargement.
• The subjects have histologically normal
corneas measuring 13.00mm to 16.50mm.
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Introduction
• It is usually a bilateral and X linked
disorder.
• Males are more affected than females.
• It is believed to be a neurocristopathy.
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Pathophysiology
• Etiology is unknown.
• Postulated that a defect occurs in the
formation of the optic cup in which the
anterior tips fail to fuse allowing more
space for the developing cornea.
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Pathophysiology
• This leads to spontaneous arrest of
congenital glaucoma and exaggerated
growth of the cornea.
• Abnormal collagen synthesis may play a
major role.
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Clinical Features
• Corneal thickness normal
• Increased anterior chamber depth
• IOP normal
• High myopia and astigmatism
• Good visual acuity
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Complications
• Complication include lens subluxation as
a result of zonular stretching.
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Ocular Associations
• Iris translucency
• Miosis
• Microcoria [pupil size is less than 2mm]
• Gonio-dysgenesis
• Cataract
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Ocular Associations
• Ectopia lentis
• Arcus lipoides
• Corneal mosaic dystrophy
• Glaucoma but not congenital glaucoma
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Systemic Associations
• Marfan syndrome
• Apert syndrome
• Ehlers Danlos syndrome
• Down syndrome
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Systemic Associations
• Marfan syndrome:
- Lens subluxation
- Angle anomaly
- Retinal detachment
- Hypoplasia of dilator pupilae
- Flat cornea
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Systemic Associations
• Marfan syndrome:
- Blue sclera
- Axial myopia
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Systemic Associations
• Ehlers Danlos syndrome:
- Epicanthic folds
- Keratoconus
- High myopia
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Systemic Associations
• Ehlers Danlos syndrome:
- Retinal detachment
- Blue sclera
- Lens subluxation
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Evaluation
• History
• Vision
• Refraction
• Slit lamp evaluation
• Corneal sensitivity
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Evaluation
• Keratometry
• Topography
• Pachymetry
• Gonioscopy
• Specular microscopy
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Evaluation
• Lid retraction
• TBUT
• Lid dynamics
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Management
• Correction of refractive error
• Treatment of any other disorder if
present
• Genetic counseling
 Megalo-Ophthalmos
• Anterior megalo ophthalmos is related to
but a distinct condition which includes
ciliary ring, crystalline lens enlargement
as well as megalo cornea.
• It is a rare condition.
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• Associated with small cornea
• But there may be microphthalmos with
normal cornea and microcornea without
microphthalmos.
• Usually a bilateral condition
• Rare condition
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CLINICAL FEATURES
• Axial length is less than 21mm in adults
and less than 19mm in 1 year ld child.
• Defect of vision depends on whether it is
bilateral or not and the severity of
microphthalmos
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Classification
• It may be divided as simple without any
other ocular disease or complex i.e.
associated with cataracts, retinal or
vitreous disease or more complex
malformations.
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Classification
• It can be further divided as; (on the basis
of uveal tract abnormalities.)
- colobomatous
- Non-colobomatous
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Pathophysiology
• The association between eye growth and
closure of the fetal fissure are linked and
important since closure of the cleft is
completed early in the development.
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Isolated Microphthalmos
• Some eyes are otherwise healthy may be
below normal in size
• Vision is variably affected, depending on
the degree to which the eye is
microphthalmic
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Isolated Microphthalmos
• There may be no obvious inheritance
pattern but care is needed in genetic
counseling because of the possibility of
new mutations and recessive inheritance.
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Inherited Isolated Microphthalmos
• These are inherited as follows:
- Autosomal dominant
- Autosomal recessive
- X linked recessive
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Microphthalmos With Ocular Abnormalities
• Occurs with many severe eye diseases.
• Usually associated with hypermetropic
refraction
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Microphthalmos With Ocular Abnormalities
- Coloboma
- Peter’s anomaly
- Rieger’s anomaly
- Cataract
- PHPV
- Retinopathy of prematurity
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Microphthalmos With Ocular Abnormalities
- Retinal dysplasia
- Retinal folds
- Retinal degeneration
- Glaucoma
- aniridia
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Microphthalmos With Systemic Diseases
- Blepharophimosis
- Ptosis
- Epicanthus inversus
- Fetal infection
- Growth retardation
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Complications
• Lens subluxation
• Cataract
• Glaucoma
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Important things to be noted:
- Level of visual function
- What is the refractive error, if it is
asymmetrical, is there amblyopia present?
- Check for any colobomas
- Check for evidence of glaucoma or uveal
effusion
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Evaluation
• History- systemic history and birth history
• Vision
• Refraction
• Slit lamp evaluation
• Topography
• Corneal sensitivity
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Evaluation
• Gonioscopy
• Intra ocular pressure
• Pachymetry
• CT scan and M.R.I.
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Management
• Correction of refractive error
• Low vision evaluation and rehabilitation
• Cosmetic contact lenses or prosthetic
shells in non seeing eyes