Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Congenital Clouding of the Cornea Differential Diagnoses

  • Author: Noah S Scheinfeld, JD, MD, FAAD; Chief Editor: Hampton Roy, Sr, MD  more...
 
Updated: Jan 21, 2016
 
 

Differential Diagnoses

 
 
Contributor Information and Disclosures
Author

Noah S Scheinfeld, JD, MD, FAAD Assistant Clinical Professor, Department of Dermatology, Weil Cornell Medical College; Consulting Staff, Department of Dermatology, St Luke's Roosevelt Hospital Center, Beth Israel Medical Center, New York Eye and Ear Infirmary; Assistant Attending Dermatologist, New York Presbyterian Hospital; Assistant Attending Dermatologist, Lenox Hill Hospital, North Shore-LIJ Health System; Private Practice

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

Disclosure: Serve(d) as a speaker or a member of a speakers bureau for: Abbvie<br/>Received income in an amount equal to or greater than $250 from: Optigenex<br/>Received salary from Optigenex for employment.

Coauthor(s)

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

Disclosure: Nothing to disclose.

Specialty Editor Board

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

Disclosure: Received salary from Medscape for employment. for: Medscape.

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 Hospital

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

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Cornea Society, Allergan, Bausch & Lomb, Bio-Tissue, Shire, TearScience, TearLab<br/>Serve(d) as a speaker or a member of a speakers bureau for: Allergan, Bausch & Lomb, Bio-Tissue, TearScience.

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, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Additional Contributors

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, Texas Medical Association

Disclosure: Nothing to disclose.

Acknowledgements

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.

References
  1. Bhat YR, Sanoj KM. Images in Clinical Practices. Sclerocornea. Indian Pediatrics. 2005 Mar 17. 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. 1999 Oct 1. 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. 2003 Mar. 24(1):59-63. [Medline].

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

  6. Waizenegger UR, Kohnen T, Weidle EG, Schütte E. [Congenital familial cornea plana with ptosis, peripheral sclerocornea and conjunctival xerosis]. Klin Monatsbl Augenheilkd. 1995 Aug. 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. Haider AS, Ganesh A, Al-Kindi A, Al-Hinai A, Al-Kharousi N, Al-Yaroubi S, et al. New Ocular Associations in Sanjad-Sakati Syndrome: Case report from Oman. Sultan Qaboos Univ Med J. 2014 Aug. 14(3):e401-4. [Medline].

  10. Chandravanshi SL. Encephalocraniocutaneous lipomatosis: a case report and review of the literature. Indian J Ophthalmol. 2014 May. 62(5):622-7. [Medline].

  11. Resende GM, Lupinacci AP, Árieta CE, Costa VP. Central corneal thickness and intraocular pressure in children undergoing congenital cataract surgery: a prospective, longitudinal study. Br J Ophthalmol. 2012 Sep. 96(9):1190-4. [Medline].

  12. Gatzioufas Z, Labiris G, Stachs O, et al. Biomechanical profile of the cornea in primary congenital glaucoma. Acta Ophthalmol. 2013 Feb. 91(1):e29-34. [Medline].

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

  14. Mellgren AE, Bruland O, Vedeler A, Saraste J, Schönheit J, Bredrup C, et al. Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin. Invest Ophthalmol Vis Sci. 2015 May;. 56(5):2909-15. [Medline].

  15. 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].

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

  17. Roos L, Bertelsen B, Harris P, Bygum A, Jensen H, Grønskov K, et al. Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function. BMC Med Genet. 2015 Jun 23. 16:40. [Medline].

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

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

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

  21. 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].

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

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

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

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

  26. 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].

  27. 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. 1999 Jan-Feb. 40(1):46-9. [Medline].

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

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

  30. Eden U, Fagerholm P, Danyali R, Lagali N. Pathologic Epithelial and Anterior Corneal Nerve Morphology in Early-Stage Congenital Aniridic Keratopathy. Ophthalmology. April 2012. [Medline].

  31. Shigeyasu C, Yamada M, Mizuno Y, Yokoi T, Nishina S, Azuma N. Clinical features of anterior segment dysgenesis associated with congenital corneal opacities. Cornea. March 2012. 31:293-8. [Medline].

  32. Coulson-Thomas VJ, Caterson B, Kao WW. Transplantation of human umbilical mesenchymal stem cells cures the corneal defects of mucopolysaccharidosis VII mice. Stem Cells. 2013 Oct. 31(10):2116-26. [Medline]. [Full Text].

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

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

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

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

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

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

  39. 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. 2005 Feb. 46(2):420-6. [Medline].

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

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

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

  43. 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. 2007 Sep. 48(9):3937-44. [Medline].

  44. Lisch W. Corneal dystrophy (CD)-induced pain and visual impairment in childhood. Klin Monbl Augenheilkd. 2013 Jun. 230:582-6.

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

  46. Sherman MD. Dermoids, Limbal. Medscape Reference. 2010. [Full Text].

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

  48. Tewfik TL. Manifestations of Craniofacial Syndromes. Medscape Reference Journal [serial online]. 2010. [Full Text].

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

  50. 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. 2007 Aug 27. 13:1475-82. [Medline].

Previous
Next
 
Congenital stromal dystrophy. The cornea is particularly opaque in the anterior stroma by slit-lamp biomicroscopy. Courtesy of Wikipedia (© 2009 Klintworth; licensee BioMed Central Ltd).
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.