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MICROCORNEA
Microcornea
clear cornea of normal thickness diameter is < 10 mm (or 9 mm in a newborn) Anterior microphthalmos whole anterior segment is small Microphthalmos entire eye is small and malformed Nanophthalmos eye is small but otherwise normal
Pathogenesis
Cause unknown Fetal arrest of growth of the cornea in the 5th month Overgrowth of the anterior tips of the optic cup, which leaves less space for the cornea to develop
Clinical Findings
Autosomal dominant or recessive Equal sex predilection Cornea relatively flat hyperopia & incidence of angle-closure glaucoma
Clinical Findings
Associated ocular anomalies: Persistent fetal vasculature Congenital catarcts Anterior segment dysgenesis Optic nerve hypoplasia Associated systemic conditions: Myotonic dystrophy Fetal alcohol syndrome Achondroplasia Ehlers-Danlos syndrome
Management
Excellent visual prognosis if an isolated finding Spectacles to treat the hyperopia resulting from the flat cornea Specific treatment for concurrent ocular pathology
MEGALOCORNEA
Megalocornea
Bilateral, nonprogressive corneal enlargement X-linked recessive Histologically normal cornea measuring 13.0-16.5 mm in diameter Males are more typically affected, but heterozygous women may demonstrate a slight increase in corneal diameter.
Pathogenesis
Failure of the optic cup to grow and of its anterior tips to close, leaving a larger space for the cornea to fill Arrested buphthalmos and exaggerated growth of the cornea in relation to the rest of the eye
Clinical Findings
Associated ocular anomalies: Iris translucency (diaphany) Miosis Goniodysgenesis Cataract Ectopia lentis Arcus juvenilis Mosaic corneal dystrophy Glaucoma Associated systemic conditions:
Craniosynostosis Frontal bossing Hypertelorism Facial anomalies Dwarfism Facial hemiatrophy Mental retardation Hypotonia Down Syndrome Marfan Syndrome Alport Syndrome Osteogenesis imperfecta Mucolipidosis type II
Management
Intraocular pressure testing and slit lamp biomicroscopy to rule out
congenital glaucoma
CORNEA PLANA
Cornea Plana
Flat cornea, where the radius of curvature is less than 43 D, and readings of 30-35D are common Cornal curvature that is the same as the adjacent cornea is pathognomonic
Pathogenesis
Autosomal recessive and dominant forms of cornea plana have been associated with mutations of the KERA gene (12q22), which codes for keratan sulfate proteoglycans (keratocan, lumican and mimecan)
Clinical Findings
Associated ocular anomalies: Sclerocornea Microcornea Cataracts Anterior and posterior colobomas Hyperopia Angle-closure glaucoma Open-angle glaucoma Associated systemic condition: Ehlers-Danlos Syndrome
Management
Refractive errors are corrected Glaucoma must be controlled either medically or surgically Loss of central clarity may indicate penetrating keratoplasty, but cornea plana increases the risk of graft rejection and postkeratoplasty glaucoma.
POSTERIOR EMBRYOTOXON
Posterior Embryotoxon
thickened and centrally displaced anterior border ring of Schwalbe Schwalbes ring represents the junction of the trabecular meshwork with the termination of Descemets membranes, and it is visible in 8%-30% of normal eyes as an irregular, opaque ridge 0.52.0 mm central to the limbus. Usually inherited as a dominant trait
Clinical Manifestations
Eye is usually normal. Associated ocular/systemic syndromes:
AXENFELD-RIEGER SYNDROME
Axenfeld-Rieger Syndrome
Represents a spectrum of disorders characterized by an anteriorly displaced Schwalbes ring (posterior embryotoxon), with attached iris strands, iris hypoplasia, and glaucoma in 50% of the cases occurring in late childhood or adulthood Associated skeletal, cranial, facial, and dental abnormalities are often present
Axenfeld-Rieger Syndrome
Transmission is usually dominant (75%) for the Axenfeld-Rieger group, but it can be sporadic. Spectrum of mutations of transcription factors located in chromosome region 6p25, known as forkhead genes, are responsible for many developmental defects of the anterior chamber of the eye.
PETERS ANOMALY
Peters Anomaly
Central corneal opacity present at birth that may be associated with variable degrees of iridocorneal adhesion extending from the region of the iris collarette to the border of the opacity.
Peters Anomaly
60% bilateral Associated ocular anomalies present in ~50% of cases Associated with systemic malformations in 60% of cases
Clinical Findings
Associated ocular anomalies: Keratolenticular touch Cataract Congenital glaucoma Microcornea Aniridia Persistent fetal vasculature Associated systemic malformations: Developmental delay Heart defects External ear abnormalities Hearing loss CNS deficits Spinal defects Gastrointestinal and genitourinary defects Facial clerfts Skeletal anomalies
Histopathologic Findings
Localized absence of the corneal endothelium and Descemets membrane beneath the area of opacity
Pathogenesis
Most cases occur sporadically Autosomal recessive and dominant patterns
Clinical Findings
Variable amount of overlying stromal haze Loss of stromal substance can lead to corneal thinning approaching one third of normal. Descemets membrane and endothelium are usually present in the area of defect Focal deposits of pigmentation and guttae are often present at the margins of opacity. Astigmatism amd/ or amblyopia may occur.
SCLEROCORNEA
Sclerocornea
Nonprogressive, noninflammatory scleralization of the cornea, may be limited to the corneal periphery, or the entire cornea may be involved.
Sclerocornea
Usually sporadic Autosomal dominant and recessive patterns No sex predilection 90% bilateral Multiple systemic anomalies have been reported in association with sclerocornea.
Clinical Findings
Limbus is usually ill-defined, and superficial vessels that are extensions of normal scleral, episcleral, and conjunctival vessels cross the cornea. Cornea plana in 80% (most common
associated ocular finding)
Pathogenesis
Intrauterine perforation from an infection or from thinning following secondary failure of neutral crest cell migration results in dermoid transformation of the cornea to stratified squamous epithelium, sparing the eyelids and conjunctiva.
Pathogenesis
Histopathologically, Descemets membrane and endothelium are absent, and a uveal lining is present (except in keratectasia). The cornea is variably thinned and scarred and the anterior segment disorganized, with the lens occasionally adherent to the posterior cornea, resembling unilateral Peters anomaly.
Clinical Findings
An opaque, bulging cornea is accompanied by a deep anterior segment. Unilateral and sporadic with no familial or systemic association.
Congenital bulging enlargement of the anterior segment with thinning and clouding of the cornea and anterior sclera. Iris is adherent to opacified cornea.
Management
Except in very mild cases, visual prognosis is poor because of associated severe damage to the anterior segment. Penetrating keratoplasty is rarely warranted, and enucleation may be required for a blind, glaucomatous, painful eye.
The corneal opacities, are identifiable as small flakes and spots and were present throughout the entire stromal thickness.
A markedly opaque cornea due to stromal edema secondary to defective endothelial cells
Clinical Findings
A posterior corneal defect called von Hippel internal corneal ulcer may follow intrauterine inflammation. Often, signs of inflammation may still be present after birth including: corneal infiltrates and vascularization keratic precipitates uveitis
Clinical Findings
Interstitial keratitis can develop in the 1st decade of life in children with untreated congenital syphilis rapidly progressive corneal edema followed by abnormal vascularization in the deep stroma adjacent to Descemets membrane cornea may assume a salmon pink color because of intense vascularization (salmon patch) blood flow decreases empty ghost vessels in the corneal stroma
Clinical Findings
Histopathologic examination reveals: Thick collagenase bundles haphazardly arranged, with focal areas of myofibroblastic proliferation.
Clinically corneal keloids appear as gray-white elevated masses diffusely involving the entire stroma or as localized solitary nodules.
Management
Thorough systemic examination: - neuroradiologic studies Frequent topical lubrication Nighttime lid splinting Lateral tarsorrhaphy
CONGENITAL GLAUCOMA
Congenital Glaucoma
Primary congenital glaucoma is evident either at birth or within the first few years of life. Believed to be caused by dysplasia of the anterior chamber angle without other ocular or systemic abnormalities.
Clinical Findings
Triad of epiphora, photophobia, blepharospasm. Buphthalmos, with corneal enlargement greater than 12 mm in diameter during the first year of life Corneal edema is present in 25% of affected infants at birth and in more than 60% by the 6th month. May range from mild haze to dense opacification in the corneal stroma because of elevated IOP. Tears in Descemets membrane called Haabs striae may occur acutely due to corneal stretching
Haabs striae
Horizontal or concentric, single or multiple, parallel lines in the cornea caused by tears in Descemets membrane
BIRTH TRAUMA
Birth Trauma
Progressive corneal edema developing during the first few postnatal days, accompanied by vertical or oblique posterior striae, may be caused by birth trauma Ruptures occur at Descemets membrane and the endothelium Healing usually takes place, leaving a hypertophic ridge of Descemets membrane. The edema may or may not be clear, if it does clear, the cornea can again become edematous at any time later in life. High astigmatism and amblyopia may be associated.
"hammered-silver" appearance
Pathogenesis
Unknown but appears to involve an abnormal clone of endothelial cells that takes on ultrastructural characteristics of epithelial cells Varying degrees of endothelialization take place in the anterior chamber angle and on the iris surface.
Clinical Findings
Pathology confined to the inner corneal surface: corneal edema may result from the subnormal endothelial pump function (Chandler variant)
Chandler variant
Clinical Findings
Abnormal endothelium migrates over the anterior chamber angle glaucoma (due to formation of PAS and outflow obstruction)
Clinical Findings
Abnormal endotheloum spreads onto the surface of the iris contractile membrane iris atrophy, corectopia, polycoria (hallmarks of the essential iris atrophy variant) Cogan-Reese (iris-nevus variant) Multiple pigmented iris nodules
Extensive iris atrophy with polycoria and ectropion uvea in a patient with progressive iris atrophy
Clusters of pigmented iris nodules occurred only in the areas that appeared hypochromic
Management
Penetrating keratoplasty Long-term graft clarity depends on the successful control of the IOP
ARCUS JUVENILIS
Arcus Juvenilis
Deposition of lipid in the peripheral corneal stroma, occasionally occurs as a congenital anomaly. Involves only a sector of the peripheral cornea and is not associated with abnormalities of serum lipid.
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