Glaucoma, Secondary Congenital Workup

  • Author: Inci Irak-Dersu, MD; Chief Editor: Hampton Roy Sr, MD   more...
 
Updated: Aug 23, 2010
 

Laboratory Studies

  • Aniridia: Chromosome analysis and genetic counseling are important parts of the workup.
  • Axenfeld-Rieger syndrome: Patients may need workup for associated systemic abnormalities.
  • Many other systemic anomaly – associated glaucoma conditions require appropriate workup including genetic analysis, laboratory studies, and imaging to diagnose and manage the patient's systemic diseases.
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Imaging Studies

  • Neurofibromatosis
    • The most serious complication of neurofibromatosis type 1 (NF-1) is optic nerve and/or chiasm glioma (in 15% of patients).
    • An MRI of the orbit and brain is needed to screen for the tumor.
  • Sturge-Weber syndrome
    • In Sturge-Weber syndrome, calcium deposits located predominantly in the occipital lobe of the brain parenchyma can be detected by a CT scan. These deposits follow the cerebral convolutions and give the appearance of a railroad track.
    • Angiomatous malformations, decreased cerebral volume, and increased choroidal plexus volume are the other findings of Sturge-Weber syndrome. An MRI can delineate these findings better than a CT scan.
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Other Tests

  • Peters anomaly
    • B-scan is needed to evaluate intraocular structures that are obstructed by the corneal opacity.
    • Electrophysiologic tests occasionally are needed to evaluate the visual potential of the eye prior to making decision on intervention.
  • Nanophthalmos: Pachymetry, A- and B-scan ultrasonography, and ultrasound biomicroscopy (UBM) are useful in helping to establish a diagnosis.
  • All glaucoma types
    • Pachymetry readings are important in all types of glaucoma, including childhood glaucoma, to adjust for IOP readings.
    • In a small study, the mean central corneal thickness of children with different types of childhood glaucoma was measured. According to this study, in 34 children with glaucoma, IOP was overestimated by 3 mm Hg or more in 41.2% of them. In children with Sturge-Weber syndrome, the mean central corneal thickness was 591.9 +/- 23.1 µm, and, in children with aniridia, the mean central corneal thickness was 754.5 +/- 92.6 µm.[1]
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Contributor Information and Disclosures
Author

Inci Irak-Dersu, MD  Associate Professor, Director of Glaucoma Service, Department of Ophthalmology, University of Arkansas College of Medicine, Jones Eye Institute

Inci Irak-Dersu, MD is a member of the following medical societies: American Academy of Ophthalmology, American Glaucoma Society, American Society of Cataract and Refractive Surgery, and Arkansas Medical Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Andrew I Rabinowitz, MD  Consulting Staff, Department of Ophthalmology, Barnet Dulaney Perkins Eye Center

Andrew I Rabinowitz, MD is a member of the following medical societies: Aerospace Medical Association, American Academy of Ophthalmology, and American Medical Association

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Senior Pharmacy Editor, eMedicine

Disclosure: eMedicine Salary Employment

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. Lopes JE, Wilson RR, Alvim HS, Shields CL, Shields JA, Calhoun J, et al. Central corneal thickness in pediatric glaucoma. J Pediatr Ophthalmol Strabismus. Mar-Apr 2007;44(2):112-7. [Medline].

  2. Iwach AG, Hoskins HD Jr, Hetherington J Jr, Shaffer RN. Analysis of surgical and medical management of glaucoma in Sturge-Weber syndrome. Ophthalmology. Jul 1990;97(7):904-9. [Medline].

  3. Agarwal HC, Sandramouli S, Sihota R, Sood NN. Sturge-Weber syndrome: management of glaucoma with combined trabeculotomy-trabeculectomy. Ophthalmic Surg. Jun 1993;24(6):399-402. [Medline].

  4. Kargi SH, Koc F, Biglan AW, Davis JS. Visual acuity in children with glaucoma. Ophthalmology. Feb 2006;113(2):229-38. [Medline].

  5. Yang LL, Lambert SR, Lynn MJ, Stulting RD. Surgical management of glaucoma in infants and children with Peters' anomaly: long-term structural and functional outcome. Ophthalmology. Jan 2004;111(1):112-7. [Medline].

  6. Allingham R, Damji K, Freedman S, Moroi S, Shafranov G. Developmental glaucomas with associated anomalies. In: Shields' Textbook of Glaucoma. 5th ed. Philadelphia, PA 19106: Lippincott Williams & Wilkins; 2005:252-271.

  7. Cantor LB. Glaucoma associated with congenital disorders. In: Ritch R, ed. The Glaucomas. Vol 2. St Louis: Mosby; 1989:931-960.

  8. Eibschitz-Tsimhoni M, Lichter PR, Del Monte MA, Archer SM, Musch DC, Schertzer RM, et al. Assessing the need for posterior sclerotomy at the time of filtering surgery in patients with Sturge-Weber syndrome. Ophthalmology. Jul 2003;110(7):1361-3. [Medline].

  9. Facts and Comparisons. Drug Facts and Comparisons. St Louis; 1999.

  10. Freedman S, Walton D. Glaucoma in infants and children. In: Nelson L, Olitsky S, eds. Harley's Pediatric Ophthalmology. 5th ed. Philadelphia, PA 19106: Lippincott Williams & Wilkins; 2005:Chapter 14, 285-304.

  11. Hittner HM. Aniridia. In: Ritch R, ed. The Glaucomas. Vol 2. St Louis: Mosby; 1989:869-884.

  12. Kirwan JF, Shah P, Khaw PT. Diode laser cyclophotocoagulation: role in the management of refractory pediatric glaucomas. Ophthalmology. Feb 2002;109(2):316-23. [Medline].

  13. Schottenstein EM. Peter's anomaly. In: Ritch R, ed. The Glaucomas. Vol 2. St Louis: Mosby; 1989:897-903.

  14. Shields MB. Axenfeld-Rieger syndrome. In: Ritch R, ed. The Glaucomas. Vol 2. St Louis, Mo: Mosby; 1989:885-95.

  15. Singh OS. Nanophthalmos guidelines for diagnosis and therapy. In: Albert DM, Jakobiec FA, eds. Principles and Practice of Ophthalmology. Vol 4. 2000:2846-2859.

  16. Walsh J, Muldoon T. Glaucoma associated with retinal vitreoretinal disorders. In: Ritch R, Shield MB, Krupin T, eds. The Glaucomas. Vol 2. 1996:1055-1071.

  17. Weiss JS, Ritch R. Glaucoma in the phakomatoses. In: Ritch R, ed. The Glaucomas. Vol 2. St Louis: Mosby; 1989:905-29.

  18. Wilson ME, Buckley EG, Kivlin JD. Pediatric Ophthalmology and Strabismus. AAO, Basic and Clinical Science Course. 1998;6:330-345.

 
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Axenfeld-Rieger syndrome with iris atrophy, corectopia, and pseudopolycoria.
Female patient with plexiform neurofibroma (NF-1). Upper right eyelid involvement, associated with ipsilateral buphthalmos. In Image A (left), patient is aged 8 months; in Image B (right), patient is aged 8 years.
Female infant with Sturge-Weber syndrome. Facial port-wine nevus involves the left eyelid, associated with ipsilateral buphthalmos.
 
 
 
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