Juvenile Glaucoma Clinical Presentation

  • Author: David Sellers Walton, MD; Chief Editor: Hampton Roy Sr, MD   more...
 
Updated: Nov 17, 2011
 

History

A family history of glaucoma with occurrence over 2 generations or in a parent and sibling often is responsible for an early diagnosis of juvenile glaucoma. Patients are asymptomatic until glaucoma is advanced. Myopia is present in 50% of persons with juvenile glaucoma.

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Physical

General physical examination findings are normal.

  • Eye examination
    • Elevated eye pressures - Both eyes
    • Myopia
    • Optic disc damage (cupping)
    • Visual field loss
    • Slit lamp examination - Normal
    • Gonioscopy - Normal, open angles, occasionally prominent uveal processes
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Causes

Juvenile glaucoma is caused by a genetically determined defect in the trabecular meshwork with autosomal dominant transmission (see Pathophysiology).

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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.

Specialty Editor Board

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.

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape 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

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  2. Khan AO, Al-Abdi L, Mohamed JY, Aldahmesh MA, Alkuraya FS. Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations. J AAPOS. Apr 2011;15(2):198-9. [Medline].

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

  4. Aponte EP, Diehl N, Mohney BG. Medical and surgical outcomes in childhood glaucoma: a population-based study. J AAPOS. Jun 2011;15(3):263-7. [Medline]. [Full Text].

  5. de Silva DJ, Khaw PT, Brookes JL. Long-term outcome of primary congenital glaucoma. J AAPOS. Apr 2011;15(2):148-52. [Medline].

  6. 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].

  7. 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].

  8. Gupta V, Dutta P, Ov M, Kapoor KS, Sihota R, Kumar G. Effect of glaucoma on the quality of life of young patients. Invest Ophthalmol Vis Sci. Oct 2011;52(11):8433-7. [Medline].

  9. 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.

  10. 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].

  11. 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].

  12. 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].

  13. 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].

  14. 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].

 
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