Primary Congenital Glaucoma Clinical Presentation

  • Author: Gerhard W Cibis, MD; Chief Editor: Hampton Roy Sr, MD   more...
 
Updated: Aug 4, 2011
 

History

The classic triad of manifestations, any one of which should arouse suspicion of glaucoma in an infant or young child, includes epiphora, photophobia, and blepharospasm.

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Physical

Complete ophthalmologic examination

  • Externally, changes within the cornea, especially within the first few years of life, provide strong additional support for the diagnosis.
  • The average horizontal corneal diameter at birth is less than 10.5 millimeters. Distention of the globe in response to elevated intraocular pressure leads to enlargement of the cornea. If the corneoscleral junction is more than 12 millimeters in diameter in the first year of life, it is highly suggestive of glaucoma. Grossly, this is more evident in asymmetric cases.
  • Corneal edema may be a direct result of the elevated intraocular pressure, producing a corneal haze that clears with normalization of the pressure. Haab striae represent tears in the Descemet membrane as a result of elevated intraocular pressure. In advanced cases, a dense opacification of the corneal stroma may occur secondary to the corneal edema, and it may persist, despite reduction of the intraocular pressure.
  • The early presence of glaucoma may deepen the anterior chamber. Because of the frequent occurrence of iris abnormalities in many types of both primary and secondary childhood glaucomas, the iris and angles always should be studied carefully and with thorough gonioscopy.
  • By the time that glaucoma is diagnosed in a child, the optic nerve head is usually abnormal. Variable cupping is present, usually annular in form, with nasalization of vessels and preservation of the well-vascularized rim. Pallor is first seen temporally when present at an advanced stage.
  • Tonometry often can be accomplished in a child's eye with a handheld instrument, such as a Perkins tonometer or a Tono-Pen. Accuracy of intraocular pressure measurements taken in the office may be artificially elevated from straining.
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Causes

Most cases of primary congenital glaucoma are sporadic in occurrence. However, evidence exists suggesting that the disease may be transmitted through an autosomal recessive pattern, with variable penetrance, or a polygenic inheritance pattern. Polygenic inheritance is glaucoma resulting from the interaction of 2 or more nonhomologous genes. Digynically, this has been shown in humans for CYB1B1 and MYOC and in the mouse for CYP1B1 and FOXC1.[1]

CYP1B1, the gene encoding cytochrome P4501B1 (P450, family I, sub family B, polypeptide 1) is associated with primary congenital glaucoma. GLC3B located on band 1p36 and GLC3C located on band 14q24.3 are loci that are linked to primary congenital glaucoma, but the genes are unknown.

The incidence of CYP1B1 in familial cases is 93% in Saudi Arabia, 50% in Brazil, and 20-30% in ethnically mixed populations, and its incidence in nonfamilial (simplex) cases is 10-15%. Mice with this defect have structural abnormalities of the drainage system resembling those seen in humans.

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Contributor Information and Disclosures
Author

Gerhard W Cibis, MD  Clinical Professor, Director of Pediatric Ophthalmology Service, Department of Ophthalmology, University of Kansas School of Medicine

Gerhard W Cibis, MD is a member of the following medical societies: American Academy of Ophthalmology, American Association for Pediatric Ophthalmology and Strabismus, and American Ophthalmological Society

Disclosure: Nothing to disclose.

Coauthor(s)

Robert C Urban, Jr, MD  Medical Director, Glaucoma Associates, Oaklake Medical Center

Robert C Urban, Jr, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Ophthalmology

Disclosure: Nothing to disclose.

Andrew A Dahl, MD  Director of Ophthalmology Teaching, Mid-Hudson Family Practice Institute, The Institute for Family Health; Assistant Professor of Surgery (Ophthalmology), New York College of Medicine

Andrew A Dahl, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Ophthalmology, American College of Surgeons, American Medical Association, American Society of Cataract and Refractive Surgery, and Wilderness Medical Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Neil T Choplin, MD  Adjunct Clinical Professor, Department of Surgery, Section of Ophthalmology, Uniformed Services University of Health Sciences

Neil T Choplin, MD is a member of the following medical societies: American Academy of Ophthalmology, American Glaucoma Society, Association for Research in Vision and Ophthalmology, and California Medical Association

Disclosure: Nothing to disclose.

Simon K Law, MD, PharmD  Associate Professor of Ophthalmology, Jules Stein Eye Institute, University of California, Los Angeles, David Geffen School of Medicine

Simon K Law, MD, PharmD is a member of the following medical societies: American Academy of Ophthalmology, American Glaucoma Society, and Association for Research in Vision and Ophthalmology

Disclosure: Nothing to disclose.

Martin B Wax, MD  Clinical Professor, Department of Ophthalmology, University of Texas Southwestern Medical School; Vice President, Ophthalmology Research and Development, Head, Ophthalmology Discovery Research, Alcon Labs, Inc

Martin B Wax, MD is a member of the following medical societies: American Academy of Ophthalmology, American Glaucoma Society, and Society for Neuroscience

Disclosure: Nothing to disclose.

Lance L Brown, OD, MD  Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri

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. Mandal AK, Chakrabarti D. Update on congenital glaucoma. Indian J Ophthalmol. Jan 2011;59 Suppl:S148-57. [Medline]. [Full Text].

  2. Gupta V, Jha R, Srinivasan G, Dada T, Sihota R. Ultrasound biomicroscopic characteristics of the anterior segment in primary congenital glaucoma. J AAPOS. Dec 2007;11(6):546-50. [Medline].

  3. Tamcelik N, Ozkiris A. Long-term results of viscotrabeculotomy in congenital glaucoma: comparison to classical trabeculotomy. Br J Ophthalmol. Jan 2008;92(1):36-9. [Medline].

  4. Bejjani BA. Primary congenital glaucoma. Gene Tests. Available at http://www.genetests.org/. Accessed September 30, 2004.

  5. DP Edward, Fajarananant TS, et al. A comprehensive update on congenital glaucoma. Current Pediatric Reviews. Feb 2008;4(1):19-30.

  6. Sarfarazi Mansoor , inventors; U of Connecticut. Diagnosis of Primary Congenital Glaucoma. US patent 6207394. March 27 2001.

 
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