eMedicine Specialties > Ophthalmology > Intraocular Pressure

Glaucoma, Juvenile: Differential Diagnoses & Workup

Author: David Sellers Walton, MD, Clinical Professor of Ophthalmology, Harvard Medical School; Surgeon in Ophthalmology, Massachusetts Eye and Ear Infirmary; Assistant Pediatrician, Massachusetts General Hospital
Contributor Information and Disclosures

Updated: Feb 22, 2008

Differential Diagnoses

Other Problems to Be Considered

Late-recognized primary congenital glaucoma, glaucoma secondary to uveitis, steroid glaucoma, and iridocorneal dysgenesis
Late-recognized infantile glaucoma (anterior segment signs of infantile glaucoma, such as breaks in the Descemet membranes and corneal enlargement)
Glaucoma associated with a systemic disease (see Background
Glaucoma associated with a primary eye anomaly, such as Axenfeld anomaly (see Background) Glaucoma secondary to another eye disease, such as trauma, uveitis, or steroid use
Evidence of a narrow-angle glaucoma

Workup

Laboratory Studies

  • Mutational analysis of the myocilin gene at chromosomal region 1q21-q31 can be performed. More than 50% of disease-causing alleles may be screened by restriction enzyme analysis.

Imaging Studies

  • Glaucoma assessment - Field testing, fundus photography, and retinal tomography

Procedures

Histologic Findings

An isolated report by Tawara and Inomata found an abnormal compact trabecular meshwork in patients with juvenile glaucoma.1

More on Glaucoma, Juvenile

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

References

  1. Tawara A, Inomata H. Developmental immaturity of the trabecular meshwork in juvenile glaucoma. Am J Ophthalmol. Jul 15 1984;98(1):82-97. [Medline].

  2. Alward WL, Fingert JH, Coote MA, Johnson AT, Lerner SF, Junqua D, et al. Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A). N Engl J Med. Apr 9 1998;338(15):1022-7. [Medline].

  3. Bruttini M, Longo I, Frezzotti P, Ciappetta R, Randazzo A, Orzalesi N, et al. Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma. Arch Ophthalmol. Jul 2003;121(7):1034-8. [Medline].

  4. Melamed S, Ashkenazi I. Juvenile-onset open angle glaucoma. In: Albert D, Jakobiec F, ed. Principles and Practice of Ophthalmology. Philadelphia: WB Saunders Co; 1994:1345-9.

  5. Puska P, Lemmela S, Kristo P, Sankila EM, Jarvela I. Penetrance and phenotype of the Thr377Met Myocilin mutation in a large Finnish family with juvenile- and adult-onset primary open-angle glaucoma. Ophthalmic Genet. Mar 2005;26(1):17-23. [Medline].

  6. Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, Sunden SL, et al. Identification of a gene that causes primary open angle glaucoma. Science. Jan 31 1997;275(5300):668-70. [Medline].

  7. Tamm ER, Russell P. The role of myocilin/TIGR in glaucoma: results of the Glaucoma Research Foundation catalyst meeting in Berkeley, California, March 2000. J Glaucoma. Aug 2001;10(4):329-39. [Medline].

  8. Tsai JC, Chang HW, Kao CN, Lai IC, Teng MC. Trabeculectomy with mitomycin C versus trabeculectomy alone for juvenile primary open-angle glaucoma. Ophthalmologica. Jan-Feb 2003;217(1):24-30. [Medline].

  9. Wiggs JL, Del Bono EA, Schuman JS, Hutchinson BT, Walton DS. Clinical features of five pedigrees genetically linked to the juvenile glaucoma locus on chromosome 1q21-q31. Ophthalmology. Dec 1995;102(12):1782-9. [Medline].

Further Reading

Keywords

juvenile glaucoma, vision loss, visual deficit, juvenile-onset open-angle glaucoma, JOAG, childhood glaucoma, myopia, goniotomy, myocilin gene, MYOC gene

Contributor Information and Disclosures

Author

David Sellers Walton, MD, Clinical Professor of Ophthalmology, Harvard Medical School; Surgeon in Ophthalmology, Massachusetts Eye and Ear Infirmary; Assistant Pediatrician, Massachusetts General Hospital
David Sellers Walton, MD is a member of the following medical societies: American Academy of Ophthalmology, American Academy of Pediatrics, American Association for Pediatric Ophthalmology and Strabismus, and American Ophthalmological Society
Disclosure: Nothing to disclose.

Medical Editor

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.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
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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