Congenital Corneal Opacity

2


Congenital Corneal Opacity


Bruce Schnall and Michael J. Bartiss  


The differential diagnosis for congenital corneal opacity can be remembered using the pneumonic STUMPED:


Sclerocornea


Tears in Descemet’s membrane or birth trauma


Ulcer or infection


Mucopolysaccharidosis (MPS)


Peters’ anomaly


Endothelial dystrophy, congenital hereditary (CHED)


Dermoid


SCLEROCORNEA


Etiology


Developmental anomaly of the cornea


Defective mesodermal migration during embryogenesis, resulting in tissue resembling sclera rather than clear corneal stroma


Can be autosomal dominant, recessive, or sporadic


Has been associated with the 22q11.2 deletion syndrome


Symptoms


Opacified cornea present since birth


Signs


Usually bilateral but can be unilateral


Opacification of the cornea with the peripheral cornea more opacified than the central cornea (Fig. 2-1)


May have fine blood vessels


Differential Diagnosis


Tears in Descemet’s membrane or birth trauma


Ulcer or infection


MPS


Peters’ anomaly


CHED


Dermoid


Glaucoma


Treatment


Evaluation by a genetic specialist to look for associated congenital anomalies


If the central cornea is clear, it can be associated with cornea plano and a high refractive error.


Penetrating keratoplasty should be considered if the central visual axis is involved and the posterior segment is relatively normal.


Prognosis


Visual outcome with or without keratoplasty depends on the presence of other ­ocular and systemic abnormalities.


REFERENCES


Binenbaum G, McDonald-McGinn DM, Zackai EH, et al. Sclerocornea associated with the chromosome 22q11.2 deletion syndrome. Am J Med Genet A. 2008;146(7):904–909.


Doane JF, Sajjadi H, Richardson WP. Bilateral penetrating keratoplasty for sclerocornea in an infant with monosomy 21. Case report and review of the literature. Cornea. 1994;13(5):454–458.


Kim T, Cohen EJ, Schnall BM, et al. Ultrasound biomicroscopy and histopathology of sclerocornea. Cornea. 1998;17(4):443–445.



FIGURE 2-1. Descemet’s membrane: sclerocornea. The corneal opacification is more severe peripherally than centrally.



 


BIRTH TRAUMA: TEARS IN DESCEMET’S MEMBRANE


Etiology


Trauma to the cornea during vaginal delivery resulting in tears in Descemet’s membrane


May be associated with the use of forceps


Symptoms


Corneal edema or opacification present at birth, which may resolve within the first few days of life


Signs


Unilateral corneal edema or opacification present at birth (Fig. 2-2A)


Often observed to have eyelid swelling and evidence of trauma to eyelids at birth


Corneal edema often resolves within the first few days of life, revealing the Descemet’s membrane ruptures, which usually appear as vertical linear tears (Fig. 2-2B and C). Descemet’s tears associated with congenital glaucoma are usually oriented horizontally or curvilinearly (Fig. 2-3).


Multiple tears are often present.


Associated with high astigmatism


Differential Diagnosis


Sclerocornea


Ulcer or infection


MPS


Peters’ anomaly


CHED


Dermoid


Glaucoma


Treatment


Descemet’s tears are associated with high astigmatism, which is amblyogenic. Treatment of the amblyopia includes correction of the refractive error with glasses or contacts and part-time occlusion of the fellow eye.


Penetrating keratoplasty should be considered if the corneal edema does not resolve.


Prognosis


Visual outcome depends on the success of amblyopia treatment.


REFERENCE


Lambert SR, Drack AV, Hutchinson AK. Longitudinal changes in the refractive errors of children with tears in Descemet’s membrane following forceps injuries. J AAPOS. 2004;8(4):368–370.


 



FIGURE 2-2. A. Corneal opacification in a newborn from Descemet’s tears associated with birth trauma. B. The vertically oriented linear Descemet’s membrane ruptures can now be seen in the same infant a few days later after the corneal edema has cleared. C. The vertically oriented Descemet’s membrane breaks from birth trauma can be seen in this older child at the slit lamp with retroillumination.




FIGURE 2-3. A. Recent Descemet’s membrane ruptures associated with glaucoma. Note that the breaks are oriented horizontally. They are recent and therefore have overlying corneal edema. B. Breaks in Descemet’s membranes caused by glaucoma. The horizontally oriented breaks can be seen more clearly after resolution of the corneal edema.



 


ULCER OR INFECTION


Etiology


Acquired bacterial or herpetic infection


Symptoms


Acquired corneal opacity usually associated with conjunctival injection and eyelid swelling (Fig. 2-4)


Signs


Usually unilateral


Corneal opacity with overlying epithelial defect


Associated with conjunctival injection and other signs of inflammation


May have associated systemic infection


May have associated eyelid lesions or ­eyelid abnormalities


Differential Diagnosis


Sclerocornea


Tears in Descemet’s membrane or birth trauma


MPS


Peters’ anomaly


CHED


Dermoid


Glaucoma


Treatment


Depends on underlying cause or organism


Prompt systemic treatment may be needed


Prognosis


May result in a visually significant corneal scar


REFERENCE


Luchs JI, Laibson PR, Stefanyszyn MA, et al. Infantile ulcerative keratitis secondary to congenital entropion. Cornea. 1997;16:1:32–34.


 



FIGURE 2-4. Corneal ulcer in an infant caused by congenital entropion of the lower eyelid.



 


MUCOPOLYSACCHARIDOSIS


Etiology


Inborn error of metabolism


Enzyme deficiency leads to a block in a metabolic pathway, which results in accumulation of material in the cornea.


Symptoms


Acquired opacification of the cornea:


Hurler’s syndrome, or MPS 1H, is associated with corneal clouding by 6 months of age


Scheie’s syndrome, or MPS 1S, is associated with corneal clouding by 12 to 24 months of age


Signs


Acquired corneal cloudiness or haze (Fig. 2-5)


Associated systemic features (coarse facial features, mental retardation, poor growth, deafness)


Differential Diagnosis


Sclerocornea


Tears in Descemet’s membrane or birth trauma


Ulcer or infection


Peters’ anomaly


CHED


Dermoid


Glaucoma


Diagnosis


Evaluation by a genetic specialist


Urine testing for MPS


Enzyme assay


Gene testing for gene defect


Treatment


Enzyme replacement


Bone marrow transplant


Prognosis


Depends on severity of systemic disease and success of systemic treatment


REFERENCE


Kenyon KR, Navon SE, Haritoglou C. In: Krachmer JH, Mannis MJ, Hollane EJ, eds. Cornea. 2nd ed. Vol 1. Philadelphia: Elsevier Mosby; 2005:749–776.


 



FIGURE 2-5. Hurler’s syndrome. Note the generalized corneal haze. (Courtesy of Alex Levin, MD.)



 


PETERS’ ANOMALY


Etiology


Congenital


Can be autosomal dominant, recessive, or sporadic


May be associated with mutation of the PAX6 gene


Symptoms


Central corneal opacity present at birth (Fig. 2-6)


80% are bilateral.


Signs


Central corneal leukoma with adherent iris strands (Fig. 2-7)


Adherent iris strands usually originate from the iris collarette to the posterior surface of the corneal leukoma.


May have associated cataract and glaucoma


Differential Diagnosis


Sclerocornea


Tears in Descemet’s membrane or birth trauma


Ulcer or infection


MPS


CHED


Dermoid


Glaucoma


Diagnosis


Examination under anesthesia may be needed to confirm diagnosis and rule out glaucoma.


Treatment


Evaluation by a genetic specialist to look for associated anomalies and to rule out Peters’ plus syndrome


Treat glaucoma if present.


Penetrating keratoplasty should be considered within the first few months of life if the central visual axis is involved and posterior segment is relatively normal.


If a visually significant cataract is present, cataract removal may be needed.


Prognosis


Depends on involvement of the anterior segment; prognosis is poorer if a cataract or glaucoma is present


Depends on success of amblyopia treatment


Early keratoplasty may reduce amblyopia.


REFERENCES


Mailette De Buy Wenniger-Prick LJ, Hennekam RC. The Peters’ plus syndrome: a review. Ann Genet. 2002;45(2):97–103.


Yang LL, Lambert SR, Drews-Botsch C, et al. Long-term visual outcome of penetrating keratoplasty in infants and children with Peters anomaly. J AAPOS. 2009;13(2):175–180.


Yang LL, Lambert SR, Lynn MJ, et al. Long-term results of corneal graft survival in infants and children with Peters anomaly. Ophthalmology. 1999;106(4):833–848.


 



FIGURE 2-6. Peters’ anomaly. Note the central opacity and the clear corneal periphery.


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Nov 9, 2016 | Posted by in OPHTHALMOLOGY | Comments Off on Congenital Corneal Opacity
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