Primary Congenital Glaucoma Workup

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

Laboratory Studies

Laboratory methods of diagnosing primary congenital glaucoma include the following:

  • Hybridization analysis using hybridization of a mutant nucleic acid probe to the CYP1B1 gene
  • Direct mutation analysis by restriction digest
  • Sequencing of the CYP1B1 gene
  • Hybridization of an allele-specific oligonucleotide with amplified genomic DNA
  • Identification of the presence of mutant proteins encoded by the CYP1B1 gene
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Imaging Studies

High-resolution anterior segment optical coherence tomography

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Other Tests

  • Examination under anesthesia can supply important information about the childhood patient.
    • In addition to tonometry, corneal measurements, gonioscopy, and ophthalmoscopy should be performed in the operating room and carefully documented.
    • Intraocular pressures recorded under general anesthesia are usually lower than those obtained in the office because of the effects of the anesthetic agents. In unilateral cases, asymmetry of otherwise normal intraocular pressures may be diagnostic, along with other signs, such as corneal diameter.
    • If available in the operating room, pachymetry to quantify corneal edema and A-scan ultrasound to determine axial distention often are useful.[2]
    • Multiple examinations may be needed before a definitive diagnosis can be made.
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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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