Congenital Clouding of the Cornea Clinical Presentation

  • Author: Noah S Scheinfeld, MD, JD, FAAD; Chief Editor: Hampton Roy Sr, MD   more...
 
Updated: Jul 22, 2011
 

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. Childhood unilateral congenital glaucoma involving optic nerve aplasia has been noted.[15]

  • 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.[16]
  • 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.[17]
  • 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.[18]
  • 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.[19]
  • Congenital rubella: A cloudy cornea was observed in microphthalmic eyes in patients with congenital rubella.[20]
  • Clinical variant of Sanfilippo syndrome
    • A 4-month-old male infant had severe corneal opacity since birth.[21] 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.
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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.
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Causes

Causes of congenital corneal clouding are genetic, metabolic, developmental, infectious, and idiopathic.

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Contributor Information and Disclosures
Author

Noah S Scheinfeld, MD, JD, FAAD  Assistant Clinical Professor, Department of Dermatology, Columbia University College of Physicians and Surgeons; Consulting Staff, Department of Dermatology, St Luke's Roosevelt Hospital Center, Beth Israel Medical Center, and New York Eye and Ear Infirmary; Private Practice

Noah S Scheinfeld, MD, JD, FAAD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Optigenex Consulting fee Independent contractor

Coauthor(s)

Benjamin D Freilich, MD, FACS  Assistant Clinical Professor, Department of Ophthalmology, Mount Sinai School of Medicine; Director of Retina Service, Bronx Veterans Administration Medical Center

Disclosure: Nothing to disclose.

Jonathan Freilich, MD, FACS  Clinical Instructor, Department of Ophthalmology, Mount Sinai School of Medicine; Consulting Staff, Department of Ophthalmology, Mount Sinai Hospital, St Luke's Roosevelt Hospital Center

Disclosure: Nothing to disclose.

Specialty Editor Board

Richard W Allinson, MD  Associate Professor, Department of Ophthalmology, Texas A&M University Health Science Center; Senior Staff Ophthalmologist, Scott and White Clinic

Richard W Allinson, MD, is a member of the following medical societies: American Academy of Ophthalmology, American Medical Association, and Texas Medical Association

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Christopher J Rapuano, MD  Professor, Department of Ophthalmology, Jefferson Medical College of Thomas Jefferson University; Director of the Cornea Service, Co-Director of Refractive Surgery Department, Wills Eye Institute

Christopher J Rapuano, MD is a member of the following medical societies: American Academy of Ophthalmology, American Society of Cataract and Refractive Surgery, Contact Lens Association of Ophthalmologists, Cornea Society, Eye Bank Association of America, International Society of Refractive Surgery, and Pan-American Association of Ophthalmology

Disclosure: Allergan Honoraria Speaking and teaching; Allergan Consulting fee Consulting; Alcon Honoraria Speaking and teaching; Inspire Honoraria Speaking and teaching; RPS Ownership interest Other; Vistakon Honoraria Speaking and teaching; EyeGate Pharma Consulting; Inspire Consulting fee Consulting; Bausch & Lomb Honoraria Speaking and teaching; Bausch & Lomb Consulting fee Consulting

Ralph Garzia, OD  Assistant Dean for Clinical and Academic Programs, Associate Professor, College of Optometry, University of Missouri at St Louis

Ralph Garzia, OD is a member of the following medical societies: American Academy of Optometry and American Optometric Association

Disclosure: Nothing to disclose.

Chief Editor

Hampton Roy Sr, MD  Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Hampton Roy Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, and Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

References

  1. Bhat YR, Sanoj KM. Images in Clinical Practices. Sclerocornea. Indian Pediatrics. Mar 17 2005;42:42. [Full Text].

  2. EyeMDLink. Congenital hereditary endothelial dystrophy. Available at http://www.allaboutvision.com/conditions/.

  3. Hand CK, Harmon DL, Kennedy SM, FitzSimon JS, Collum LM, Parfrey NA. Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping. Genomics. Oct 1 1999;61(1):1-4. [Medline].

  4. Miller MM, Butrus S, Hidayat A, Wei LL, Pontigo M. Corneoscleral transplantation in congenital corneal staphyloma and Peters' anomaly. Ophthalmic Genet. Mar 2003;24(1):59-63. [Medline].

  5. Desir J, Abramowicz M. Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome). Orphanet J Rare Dis. Oct 15 2008;3:28. [Medline].

  6. Waizenegger UR, Kohnen T, Weidle EG, Schütte E. [Congenital familial cornea plana with ptosis, peripheral sclerocornea and conjunctival xerosis]. Klin Monatsbl Augenheilkd. Aug 1995;207(2):111-6. [Medline].

  7. Perry HD, Cameron JD. Congenital corneal opacities. Available at http://www.ophthalmic.hyperguides.com.

  8. Bower KS, Edwards JD, Wagner ME, Ward TP, Hidayat A. Novel corneal phenotype in a patient with alport syndrome. Cornea. 2009;28:599-606. [Medline].

  9. Murphy MJ, Polok BK, Schorderet DF, Cleary ML. Essential role for Pbx1 in corneal morphogenesis. Invest Ophthalmol Vis Sci. Feb 2010;51(2):795-803. [Medline]. [Full Text].

  10. Wang KJ, Wang BB, Zhang F, Zhao Y, Ma X, Zhu SQ. Novel beta-crystallin gene mutations in Chinese families with nuclear cataracts. Arch Ophthalmol. Mar 2011;3:337-43. [Medline].

  11. Kao WW, Liu CY. Roles of lumican and keratocan on corneal transparency. Glycoconj J. May-Jun 2002;19(4-5):275-85. [Medline].

  12. Rezende RA, Uchoa UB, Uchoa R, Rapuano CJ, Laibson PR, Cohen EJ. Congenital corneal opacities in a cornea referral practice. Cornea. Aug 2004;23(6):565-70. [Medline].

  13. Bermejo E, Martínez-Frías ML. Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain. Am J Med Genet. Feb 17 1998;75(5):497-504. [Medline].

  14. el-Gilany AH, el-Fedawy S, Tharwat M. Causes of blindness and needs of the blind in Mansoura, Egypt. East Mediterr Health J. Jan 2002;8(1):6-17. [Medline].

  15. Floyd MS, Kwon YH, Shah S, Benson C, Longmuir SQ. Unilateral congenital glaucoma in a child with optic nerve aplasia. J AAPOS. Apr 2011;2:200-2. [Medline].

  16. Hwang JM, Chung DC, Traboulsi EI. A new syndrome of hereditary congenital corneal opacities, cornea guttata, and corectopia. Arch Ophthalmol. Jul 2003;121(7):1053-4. [Medline].

  17. Cibis GW. Congenital glaucoma. J Am Optom Assoc. Sep 1987;58(9):728-33. [Medline].

  18. Edward DP, Li J, Sawaguchi S, Sugar J, Yue BY, Tso MO. Diffuse corneal clouding in siblings with fetal alcohol syndrome. Am J Ophthalmol. Apr 15 1993;115(4):484-93. [Medline].

  19. Aldave AJ, Eagle RC Jr, Streeten BW, Qi J, Raber IM. Congenital corneal opacification in De Barsy syndrome. Arch Ophthalmol. Feb 2001;119(2):285-8. [Medline].

  20. O'Neill JF. The ocular manifestations of congenital infection: a study of the early effect and long-term outcome of maternally transmitted rubella and toxoplasmosis. Trans Am Ophthalmol Soc. 1998;96:813-79. [Medline].

  21. Lin SC, Hu FR, Hou JW, Yao YT, Wang TR, Hung PT. Corneal opacity and congenital glaucoma associated with massive heparan sulfaturia: report of one case. Acta Paediatr Taiwan. Jan-Feb 1999;40(1):46-9. [Medline].

  22. Kottler U, Demir D, Schmidtmann I, Beck M, Pitz S. Central corneal thickness in mucopolysaccharidosis II and VI. Cornea. Mar 2010;29(3):260-2. [Medline].

  23. Kim T, Cohen EJ, Schnall BM, Affel EL, Eagle RC Jr. Ultrasound biomicroscopy and histopathology of sclerocornea. Cornea. Jul 1998;17(4):443-5. [Medline].

  24. Reidy JJ. Penetrating keratoplasty in infancy and early childhood. Curr Opin Ophthalmol. Aug 2001;12(4):258-61. [Medline].

  25. Michaeli A, Markovich A, Rootman DS. Corneal transplants for the treatment of congenital corneal opacities. J Pediatr Ophthalmol Strabismus. Jan-Feb 2005;42(1):34-44. [Medline].

  26. Al-Torbak AA. Outcome of combined Ahmed glaucoma valve implant and penetrating keratoplasty in refractory congenital glaucoma with corneal opacity. Cornea. Aug 2004;23(6):554-9. [Medline].

  27. Miller MM, Butrus S, Hidayat A, Wei LL, Pontigo M. Corneoscleral transplantation in congenital corneal staphyloma and Peters' anomaly. Ophthalmic Genet. Mar 2003;24(1):59-63. [Medline].

  28. Mandal AK, Gothwal VK, Bagga H, Nutheti R, Mansoori T. Outcome of surgery on infants younger than 1 month with congenital glaucoma. Ophthalmology. Oct 2003;110(10):1909-15. [Medline].

  29. Frueh BE, Brown SI. Transplantation of congenitally opaque corneas. Br J Ophthalmol. Dec 1997;81(12):1064-9. [Medline].

  30. Bredrup C, Knappskog PM, Majewski J, Rodahl E, Boman H. Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. Invest Ophthalmol Vis Sci. Feb 2005;46(2):420-6. [Medline].

  31. Cassidy L. Paediatric cataract. March 9 2001. optometrytoday. Available at http://www.optometry.co.uk/files/e8cf2c379b358b7d42e25bdfa54a9abf_cassidy20010309.pdf. Accessed March 12, 2011.

  32. Cibis GW, Waeltermann J, Harris DJ. Peters' anomaly in association with ring 21 chromosomal abnormality. Am J Ophthalmol. Nov 15 1985;100(5):733-4. [Medline].

  33. Ciralsky J, Colby K. Congenital corneal opacities: a review with a focus on genetics. Semin Ophthalmol. Oct-Dec 2007;22:241-6. [Medline].

  34. Duke-Elder S. Congenital deformities. In: System of Ophthalmology. Vol III. St Louis: Mosby; 1965.

  35. Hansen L, Eiberg H, Rosenberg T. Novel MAF mutation in a family with congenital cataract-microcornea syndrome. Mol Vis. Oct 18 2007;13:2019-22. [Medline].

  36. Hansen L, Yao W, Eiberg H, Kjaer KW, Baggesen K, Hejtmancik JF, et al. Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. Invest Ophthalmol Vis Sci. Sep 2007;48(9):3937-44. [Medline].

  37. Holmberg J, Liu CY, Hjalt TA. PITX2 gain-of-function in Rieger syndrome eye model. Am J Pathol. Nov 2004;165(5):1633-41. [Medline].

  38. Parthasarathy A, Naumann GO. Coexistent congenital hereditary endothelial dystrophy and congenital glaucoma. Cornea. Apr 2009;28(3):365; author reply 365-6. [Medline].

  39. Sherman MD. Dermoids, Limbal. eMedicine Journal [serial online]. 2010;Available at http://emedicine.medscape.com/article/1195334-overview.

  40. Stone DU, Siatkowski RM. Congenital retinal dystrophy and corneal opacity in trisomy 8 mosaicism. J AAPOS. Jun 2005;9(3):290-1. [Medline].

  41. Tewfik TL. Manifestations of Craniofacial Syndromes. eMedicine Journal [serial online]. 2010;Available at http://emedicine.medscape.com/article/844209-overview.

  42. Thiagalingam S, Jakobiec FA, Chen T, Michaud N, Colby KA, Walton DS. Corneal anomalies in newborn primary congenital glaucoma. J Pediatr Ophthalmol Strabismus. Jul-Aug 2009;46(4):241-4. [Medline].

  43. Wimplinger I, Shaw GM, Kutsche K. HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?. Mol Vis. Aug 27 2007;13:1475-82. [Medline].

  44. Zaidman GW. The use of CT scanning in the diagnosis of protuberant congenital corneal opacities. J Pediatr Ophthalmol Strabismus. Mar-Apr 1999;36(2):101-2. [Medline].

 
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Clouding of the cornea since childhood.
 
 
 
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