eMedicine Specialties > Ophthalmology > Cornea
Congenital Clouding of the Cornea
Updated: Jun 10, 2008
Introduction
Background
A variety of genetic, metabolic, developmental, and idiopathic causes can result in congenital clouding of the cornea. A common reason for congenital clouding of the cornea is congenital glaucoma. Other major causes of corneal clouding include the following:
- Birth trauma
- Peters anomaly
- Dermoid tumors (limbal dermoids)
- Sclerocornea
- Congenital hereditary endothelial dystrophy (CHED)
- Mucopolysaccharidoses
- Infectious/inflammatory processes
The following is a mnemonic for the causes of congenital clouding of the cornea:
- S - Sclerocornea
- T - Tears in the Descemet membrane secondary to birth trauma or congenital glaucoma
- U - Ulcers
- M - Metabolic
- P - Peters anomaly
- E - Edema (CHED)
- D – Dermoid
Other rarer causes of congenital clouding of the cornea include the following: cornea plana, corneal keloids, oculoauriculovertebral (OAV) dysplasia (Goldenhar-Gorlin syndrome), congenital corneal ectasia, congenital hereditary stromal dystrophy, posterior polymorphous dystrophy, and Fryns syndrome.
Sclerocornea
Sclerocornea is an uncommon developmental abnormality of the anterior segment due to mesenchymal dysgenesis. Sclerocornea manifests as a stationary congenital anomaly. It is usually seen as an isolated ocular abnormality involving both eyes, although it can occur unilaterally. This condition typically occurs sporadically but may also have a familial or autosomal dominant inheritance pattern.
On clinical evaluation, patients with partial sclerocornea have a peripheral, white, vascularized, 1- to 2-mm corneal rim that blends with the sclera, obliterating the limbus. The central cornea is generally normal. In total sclerocornea, the entire cornea is involved, but the center of the cornea is clearer than the periphery. This finding distinguishes it from Peters anomaly, in which the center is most opaque. The opacification affects the full thickness stroma and limits visualization of the posterior corneal surface and of the intraocular structures.
Histopathology reveals disorganized collagenous tissue containing fibrils that is larger than normal. Potential coexisting abnormalities include a shallow anterior chamber, abnormalities of the iris and the lens, and microphthalmos. Systemic abnormalities, such as limb deformities and craniofacial and genitourinary defects, can also accompany this finding. In generalized sclerocornea, early keratoplasty should be considered to provide vision, although the prognosis is guarded.1
Descemet membrane tears
Forceps-induced obstetric trauma, with resultant Descemet membrane tears and corneal edema and clouding, is a cause of corneal clouding. This clouding is differentiated from primary congenital glaucoma (PCG) by the presence of periorbital soft tissue trauma, normal intraocular pressure (IOP), and the frequently vertical orientation of the Descemet membrane tears, and the absence of corneal enlargement, an abnormally deep anterior chamber, and an abnormal filtration angle.
Breaks in the Descemet membrane should be identified and differentiated from other abnormalities, such as the more vertically oriented defects seen after forceps-induced birth trauma or the irregularly scattered defects seen with posterior polymorphous dystrophy.
Corneal edema and haze are common signs of congenital glaucoma, as are horizontal or circumferential breaks in the Descemet membrane (termed Haab striae). Haab striae will remain visible on examination throughout the patient's life, even if the edema resolves with IOP normalization. Gonioscopic findings show a higher, flatter insertion of the iris at the level of the scleral spur, and the trabecular meshwork appears compacted.
Ulcers
Viral keratitis, such as herpetic keratitis or rubella keratitis, can result in a cloudy cornea in the newborn. Rubella keratitis in the newborn may particularly resemble PCG because it can be bilateral and associated with glaucoma.
Metabolic causes
Mucopolysaccharidoses
Mucopolysaccharidoses (MPS) can manifest with corneal clouding, including Hurler, Scheie, and Hurler-Scheie syndromes (all MPS I); Morquio syndrome (MPS IV); and Maroteaux-Lamy syndrome (MPS VI). Corneal clouding is not present in Hunter syndrome (MPS II) and Sanfilippo syndrome (MPS III).
Sphingolipidoses
For the most part, sphingolipidoses affect the retina, not the cornea, except in Fabry disease, an X-linked recessive disease. Fabry disease causes whorl-like opacities in the corneal epithelium (cornea verticillata), similar to those caused by chloroquine or amiodarone. Symptoms of Fabry disease also include skin lesions and peripheral neuropathy; renal failure is a common and serious complication.
Mucolipidoses
Mucolipidoses manifest with corneal clouding, in particular GM gangliosidosis type 1 and mucolipidoses types I and III.
Peters anomaly
Peters anomaly is not an isolated anterior segment abnormality; rather, it occurs as a diverse, phenotypically heterogeneous condition associated with several underlying ocular and systemic defects. Peters anomaly and PCG are genetically and phenotypically distinct conditions.
Central, paracentral, or complete corneal opacity is always present in patients with Peters anomaly. In usual cases, no vascularization of this opacity occurs; this feature helps in distinguishing it from other causes of congenital corneal opacity.
In Peters anomaly, central or paracentral corneal opacity is present. In some cases, this opacity may involve the entire cornea. In type 1, the lens may or may not be cataractous; however, the lens does not adhere to the cornea. In type 2, the lens is cataractous and adheres to the cornea. It is associated with defects in the PAX6 gene.
Congenital hereditary endothelial dystrophy
CHED manifests either in infancy or in young childhood with a cloudy cornea, light sensitivity, tearing, and sometimes nystagmus. An autosomal recessively inherited type of CHED usually appears at birth and is not progressive. Infants with this type of CHED are usually comfortable despite sometimes having profound corneal swelling. A dominantly inherited form of CHED occurs and is generally less severe than the autosomal recessive form in presentation. Youngsters with the dominantly inherited form usually present to the ophthalmologist by 2 years of age, when their parents begin to notice tearing, bright light sensitivity, and sometimes corneal haziness. No other ocular or systemic abnormalities are associated with either form of CHED.2
As stated, CHED is a corneal dystrophy characterized by diffuse bilateral corneal clouding resulting in impaired vision. It is inherited in an autosomal dominant or autosomal recessive manner. The autosomal dominant form of CHED has been mapped to the pericentromeric region of chromosome 20. Another endothelial dystrophy, posterior polymorphous dystrophy, has been linked to a large and overlapping region on chromosome 20.
A large, Irish, consanguineous family with autosomal recessive CHED was examined to determine if the disease was linked to this region. The technique of linkage analysis with polymorphic microsatellite markers amplified by polymerase chain reaction (PCR) was used. In addition, a DNA-pooling approach to mapping of homozygosity was used to demonstrate the efficiency of this method. Conventional genetic analysis in addition to a pooled-DNA strategy excluded linkage of autosomal recessive CHED to the autosomal dominant CHED and large loci for posterior polymorphous dystrophy.3
A clear association between congenital glaucoma and congenital hereditary endothelial dystrophy has been described in 3 patients. This combination should be suspected when persistent and total corneal opacification fails to resolve after bilaterally elevated IOP normalizes.4
Limbal dermoids
Sherman has extensively described limbal dermoids. Limbal dermoids are benign congenital tumors that contain choristomatous tissue (tissue not normally found at that site). They most frequently appear at the inferior temporal quadrant of the corneal limbus. However, they are occasionally present entirely within the cornea or confined to the conjunctiva. They may contain a variety of histologically aberrant tissues, including epidermal appendages, connective tissue, skin, fat, sweat gland, lacrimal gland, muscle, teeth, cartilage, bone, vascular structures, and neurologic tissue (including brain tissue). Malignant degeneration is extremely rare.
The most common system for classifying dermoids is based on their location and separates the lesions into 3 broad categories. The most common dermoid is the limbal dermoid, in which the tumor straddles the limbus. These are usually superficial lesions, but they may involve deep ocular structures. The second type involves only the superficial cornea, sparing the limbus, the Descemet membrane, and the endothelium. The third type involves the entire anterior segment in which the cornea is replaced with a dermolipoma that may involve the iris, the ciliary body, and the lens. Ultrasound biomicroscopy can be helpful in determining the extent and depth of the lesion.
Inheritance is usually sporadic, although autosomal recessive or sex-linked pedigrees exist. They can be associated with corneal clouding.
Although most limbal dermoids are isolated findings, approximately 30% are associated with Goldenhar syndrome, especially when they are bilateral.
Cornea plana
Cornea plana is an extremely rare, congenital hereditary malformation of the corneoscleral shape.5
Corneal keloids
Perry noted, "Corneal keloids are hypertrophic scars of the cornea that may be present at birth following intra-uterine trauma but more often appear spontaneously or after minor trauma in early childhood."6 These scars seem to be related to an inappropriate repair response of the corneal tissue to trauma. They are also associated with Lowe syndrome.
OAV dysplasia (Goldenhar-Gorlin syndrome)
Blepharoptosis, bilateral epibulbar dermoids, microphthalmia, epibulbar tumors, and retinal abnormalities have been documented in Goldenhar syndrome. Visual acuity is usually reduced and corneal clouding can occur.
Congenital corneal ectasia
Congenital corneal ectasia is an opaque, ectatic cornea extending between the lids and commonly occurring with corneal and lens clouding.
Congenital hereditary stromal dystrophy
Congenital hereditary stromal dystrophy manifests neonatally with a diffuse clouding of the central anterior corneal stroma with other normal corneal physical and nervous structures. The cornea is not edematous. It is nonprogressive. Its inheritance is autosomal dominant. Visual acuity is decreased. Strabismus and nystagmus may occur. The basic defect appears to be disordered fibrogenesis of stromal collagen.
Posterior polymorphous dystrophy
Posterior polymorphous dystrophy is a slowly progressive, uncommon, dominantly inherited condition. It is usually bilateral but sometimes asymmetric. It manifests with isolated or coalescent posterior corneal vesicular (the most distinctive characteristic), multilayered Descemet membrane thickening, and a bandlike configuration with sharp scalloped margin. It can cause progressive corneal edema and is associated with iris irregularities and glaucoma.
Fryns syndrome
First described in 1979, Fryns syndrome is a rare, generally lethal, autosomal recessive multiple congenital anomaly (MCA) syndrome. Patients with the syndrome present with the classical findings of cloudy cornea, brain malformations, diaphragmatic defects, and distal limb deformities.
Pathophysiology
Genetic, developmental, metabolic, and idiopathic factors are implicated as the pathophysiologic basis for congenital clouding of the cornea.
A common reason for congenital clouding of the cornea is congenital glaucoma.
Peters anomaly has been linked to genetic defects in the PAX6 gene, and a vascular-disruption sequence may be an important pathogenetic mechanism of the anomaly.
Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene has been noted and linked to congenital clouding of the cornea.
The autosomal dominant disorder Axenfeld-Rieger syndrome is associated with defects in the development of the eyes, teeth, and umbilicus. The eye manifests with iris ruptures, iridocorneal adhesions, cloudy corneas, and glaucoma. Transcription factors, such as PITX2 and FOXC1, carry point mutations that cause the disorder. Findings indicate a novel pathogenetic mechanism in which excess corneal and iridal PITX2A causes glaucoma and anterior defects that closely resemble those of Axenfeld-Rieger syndrome.
Mucopolysaccharidoses (the genetic defects of which have been elaborated elsewhere) are linked to congenital clouding of the cornea. In addition to mucopolysaccharidoses, the differential diagnosis of bilateral corneal stromal opacification includes diseases related to high-density lipoprotein (HDL) deficiency (eg, lecithin-cholesterol acetyltransferase [LCAT] deficiency, Tangier disease, fish-eye disease), Schnyder crystalline stromal dystrophy, cystinosis, gout, and mucolipidoses.
Cloudy cornea can result from congenital infections, such as rubella, and excess prenatal maternal consumption of alcohol.
Lumican and keratocan are members of the small leucine-rich proteoglycan (SLRP) family. They are the major keratan sulfate proteoglycans in the corneal stroma. Both lumican and keratocan are essential for normal cornea morphogenesis during embryonic development and maintenance of corneal topography in adults. This function is attributed to their bifunctional characteristic (protein moiety–binding collagen fibrils to regulate collagen fibril diameters and highly charged glycosaminoglycan [GAG] chains extending out to regulate interfibrillar spacings) that contributes to their regulatory role in extracellular matrix assembly.
In homozygous knockout mice, the absence of lumican leads to the formation of cloudy corneas due to an altered collagenous matrix characterized by large fibril diameters and disorganized fibril spacing. In contrast, keratocan knockout mice have thin but clear corneas with an insignificant alteration of the stromal collagenous matrix. Mutations of keratocan cause cornea plana in humans, which is often associated with glaucoma and corneal opacities.7
Congenital corneal ectasia is thought to be due to a failure of the embryonic mesoderm to migrate and form the corneal endothelium and stroma of the iris at approximately 7 weeks' gestation.
Frequency
United States
Corneal clouding, whether idiopathic or linked to a genetic syndrome, is uncommon in newborns.
In a study by Rezende et al (2004) at Wills Eye Hospital, among 78 cases of congenital corneal abnormalities, the most common primary cause was Peters anomaly (40%), followed by sclerocornea (18%), dermoid (15%), congenital glaucoma (7%), microphthalmia (4%), birth trauma, and metabolic disease (3%). Seven eyes (9%) were classified as idiopathic.8 Ten patients had systemic abnormalities associated with their ocular condition. Management was medical in 38 eyes (49%). Twenty-four eyes (31%) underwent only 1 penetrating keratoplasty (PK). Only 1 eye received a regraft during the follow-up period. Eight grafts failed during the follow-up period.
The frequency of Goldenhar syndrome is 1 case per 3500-25,000 births.
International
Bermejo and Martinez-Frias (1998) analyzed data from the Spanish Collaborative Study of Congenital Malformations (ECEMC) in 1,124,654 consecutive births to study congenital eye malformations from an epidemiologic standpoint.9 They also studied the frequencies and causal and clinical aspects. In all, 414 neonates had eye malformations, for an overall prevalence of 3.68 per 10,000 newborns. Most frequent (cases per 100,000) were anophthalmia and/or microphthalmia (21.34), congenital cataract (6.31), coloboma (4.89), corneal opacity (3.11), and congenital glaucoma (2.85).
Data from a study of 113 blind people in Mansoura, Egypt, highlighted the causes and risk factors for blindness, as well as the health and social care needs of the blind. In two thirds of patients, blindness occurred before 10 years of age. More than half the study population reported risk factors for blindness. Congenital causes accounted for almost half the cases. The most common causes of bilateral blindness were corneal opacities, cataract, and glaucoma.10
Mortality/Morbidity
Blindness results from corneal opacity and the occasionally associated cataracts and glaucoma. Amblyopia is common. Mortality may be increased because of systemic involvement, especially cardiac anomalies that are systemic manifestations of syndromes that include corneal clouding.
Race
No racial association is reported with the development of corneal clouding.
Sex
No sexual predilection is reported with congenital corneal clouding. However, corneal clouding from keloids is most common in persons with dark skin.
Age
Congenital corneal clouding is noted in the natal period.
Clinical
History
A variety of historical scenarios are described for congenital clouding of the cornea. For example, a milky quality of the cornea may be noted at birth, with a decreased responsiveness to light. The obstetrician or the pediatrician may be the first to observe these ocular properties. The neonate may be completely asymptomatic, or he or she may have other ocular or systemic anomalies. The mother might give a history of prenatal exposure to a pathogen.
- Trisomy 8: A finding described in several patients with trisomy 8 is a central corneal opacity, but data regarding the natural history of this finding are lacking. In 1 patient, the corneal opacity spontaneously improved.
- New syndrome: A new syndrome of hereditary congenital corneal opacities, cornea guttata, and corectopia was reported.11
- Peters anomaly: A child might have a history of Peters anomaly. A boy, born at the gestational age of 39 weeks, had Peters anomaly in association with a ring 21 chromosomal abnormality. Dysmorphic features included low-set ears, hypoplastic mandible, delicate and dry skin, narrow and arched palate, wide-spaced nipples, and hypotonia. He also had a cloudy right cornea. Chromosomal analysis disclosed a ring 21 defect. The cornea had a paracentral, white opacity with a loss of posterior stroma and no adherence of the iris to the leukoma. IOP, the lens, and the posterior pole were normal.12
- Maternal alcohol abuse: Three of 4 siblings born to parents with a history of heavy alcohol abuse had bilateral diffusely cloudy corneas at birth. The three siblings, who had mild systemic features of fetal alcohol syndrome, underwent corneal transplantations, and their specimens were examined under light and electron microscopy. On histology, alterations in the Bowman layer ranged from thickening to total loss. Various degrees of corneal stromal edema were observed. The unique pathologic feature in the corneas was the anomaly of the anterior banded zone of the Descemet membrane, which was absent, poorly formed, or thinned in the central and peripheral cornea. The corneal endothelium was attenuated or multilayered. The diffuse clouding and the range of histologic abnormalities in the corneas might have been related to the maternal alcohol abuse.13
- De Barsy syndrome
- A male newborn had bilateral congenital corneal opacification. Examination revealed a variety of dysmorphic features, including cutis laxa, progeroid aspect, short stature, multiple hyperextensible subluxated joints, muscular hypotonia, and hyperreflexia. Bilateral penetrating keratoplasties were performed. Histopathologic examination revealed diffuse epithelial thickening, loss of the Bowman layer, and stromal attenuation with anterior stromal scarring. Special stains showed no deposition of abnormal material in the corneas. Electron microscopy demonstrated absence of the Bowman layer differentiation with a paucity of collagen fibers and extensive small, elastic fibers in the anterior stroma. The diagnosis was De Barsy syndrome, a rare, progeroid syndrome associated with characteristic ocular, facial, skeletal, dermatologic, and neurologic abnormalities.
- De Barsy syndrome should be included in the differential diagnosis of congenital corneal opacification; its distinctive clinical features enable the clinician to easily differentiate it from other causes of congenital cloudy corneas.14
- Congenital rubella: A cloudy cornea was observed in microphthalmic eyes in patients with congenital rubella.15
- Clinical variant of Sanfilippo syndrome
- A 4-month-old male infant had severe corneal opacity since birth.16 Examination revealed buphthalmos, increased IOP, and corneal opacity with neovascularization but not a dysmorphic face or hirsutism. The liver and spleen were impalpable. Hypotonia, poor head control, and absence of Moro and grasping reflexes were noted. He had no evidence of congenital infection (toxoplasmosis, other infections, rubella, cytomegalovirus infection, and herpes simplex [TORCH] study). Urine and plasma amino acid levels were normal. However, thin-layer chromatography showed excessive urinary excretion of heparan sulfate. Corneal transplantation was performed at 6 months of age. Histopathology of the corneal button showed homogeneous thickening of the Bowman layer and pinkish intracytoplasmic substances in the corneal stroma. The Alcian blue stain was positive, consistent with MPS of the cornea.
- The manifestation in this case may be a clinical variant of Sanfilippo syndrome (MPS III).
- Mucopolysaccharidoses can result in corneal clouding but do not necessarily manifest in the natal period.
Physical
Central, paracentral, or complete corneal opacity is always present in infants with congenital corneal clouding. Systemic and ocular symptoms that accompany the clouding allow for the syndromic classification of the infant's condition.
- Peters anomaly is an uncommon syndrome that manifests with corneal clouding. (See also Peters Anomaly.)
- In type 1 Peters anomaly, 80% of cases are bilateral. Central or paracentral annular corneal opacity is present. The surrounding peripheral cornea may be clear or edematous because of glaucoma. The cornea is avascular. Iris strands often extend from the collarette, across the anterior chamber, to the posterior surface of the cornea. These strands may be filamentous or thick strands or sheets. A defect in the underlying corneal endothelium and the Descemet membrane causes the opacity. The lens may be clear or cataractous.
- In type 2 Peters anomaly, cases are usually bilateral. The corneal opacity is dense and may be central or eccentric. The lens is usually cataractous and typically juxtaposed to the cornea. The posterior stroma, the Descemet membrane, and the endothelium are defective. Iris strands may or may not be present. Other ocular and systemic abnormalities are more common in type 2 than in type 1.
- Corneal clouding, as observed by using a slit lamp, may be used in the differential diagnosis of mucopolysaccharidoses. Corneal clouding is present in MPS I, VI, and VII but absent in MPS II.
Causes
Causes of congenital corneal clouding are genetic, metabolic, developmental, infectious, and idiopathic.
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Further Reading
Keywords
Peters' anomaly, Peter anomaly, sclerocornea, congenital central corneal leukoma, primary congenital glaucoma, PCG, congenital hereditary endothelial dystrophy, CHED, posterior polymorphous dystrophy, PPMD, mucopolysaccharidosis, MPS
