eMedicine Specialties > Ophthalmology > Intraocular Pressure

Glaucoma, Primary Congenital: Differential Diagnoses & Workup

Author: Gerhard W Cibis, MD, Clinical Professor, Director of Pediatric Ophthalmology Service, Department of Ophthalmology, University of Kansas, Kansas City
Coauthor(s): Robert C Urban, Jr, MD, Medical Director, Glaucoma Associates, Oaklake Medical Center; 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
Contributor Information and Disclosures

Updated: Feb 13, 2009

Differential Diagnoses

Peters Anomaly

Other Problems to Be Considered

Birth trauma
Choristomas (dermoid and dermislike choristoma)
Dysgeneses (Peters anomaly and sclerocornea)
Dystrophies (congenital hereditary endothelial dystrophy and posterior polymorphous dystrophy)
Inborn errors of metabolism (mucopolysaccharidoses and cystinosis)
Intrauterine inflammation (congenital syphilis and rubella)
Keratomalacia
Skin disorders that affect the cornea (congenital ichthyosis and congenital dyskeratosis)

Workup

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

Imaging Studies


High-resolution anterior segment optical coherence tomography

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.1
    • Multiple examinations may be needed before a definitive diagnosis can be made.

More on Glaucoma, Primary Congenital

Overview: Glaucoma, Primary Congenital
Differential Diagnoses & Workup: Glaucoma, Primary Congenital
Treatment & Medication: Glaucoma, Primary Congenital
Follow-up: Glaucoma, Primary Congenital
References
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References

  1. 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].

  2. 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].

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

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

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

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Further Reading

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Keywords

primary congenital glaucoma, childhood glaucomas, glaucoma in children, increased intraocular pressure, increased IOP, optic nerve damage, vision loss, blindness, aqueous outflow

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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, Kansas City
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.

Medical Editor

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.

Pharmacy Editor

Simon K Law, MD, PharmD, Assistant Professor of Ophthalmology, Jules Stein Eye Institute; Chief of Section of Ophthalmology Surgical Services, Department of Veterans Affairs Healthcare Center, West Los Angeles
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.

Managing Editor

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: Alcon Labs Salary Employment

CME Editor

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.

 
 
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