History

Because patients with juvenile glaucoma are often asymptomatic, the diagnosis is sometimes made on routine ophthalmological examination when optic nerve abnormalities are noted. Symptoms of visual loss and headache may lead to discovery of the disease.

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.

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

Causes

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

Physical Examination

Physical examination of the visual system may include elevated intra-ocular pressures, optic nerve atrophy or cupping, asymmetry of the optic nerve heads, and visual field loss.

Workup

Urban B, Bakunowicz-Łazarczyk A, Michalczuk M, Krętowska M. Evaluation of corneal endothelium in adolescents with juvenile glaucoma. J Ophthalmol. 2015. 2015:895428. [QxMD MEDLINE Link].
Cronemberger S, Calixto N, Avellar Milhomens TG, Gama PO, Milhomens EG, Rolim H, et al. Effect of intraocular pressure control on central corneal thickness, horizontal corneal diameter, and axial length in primary congenital glaucoma. J AAPOS. 2014 Oct. 18 (5):433-6. [QxMD MEDLINE Link].
Khan AO. Genetics of primary glaucoma. Curr Opin Ophthalmol. 2011 Sep. 22(5):347-55. [QxMD MEDLINE Link].
Khan AO, Al-Abdi L, Mohamed JY, Aldahmesh MA, Alkuraya FS. Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations. J AAPOS. 2011 Apr. 15(2):198-9. [QxMD MEDLINE Link].
Souzeau E, Hayes M, Zhou T, Siggs OM, Ridge B, Awadalla MS, et al. Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss. JAMA Ophthalmol. 2015 Jul 1. 133 (7):826-33. [QxMD MEDLINE Link].
Lotufo D, Ritch R, Szmyd L Jr, Burris JE. Juvenile glaucoma, race, and refraction. JAMA. 1989 Jan 13. 261 (2):249-52. [QxMD MEDLINE Link].
Aponte EP, Diehl N, Mohney BG. Medical and surgical outcomes in childhood glaucoma: a population-based study. J AAPOS. 2011 Jun. 15(3):263-7. [QxMD MEDLINE Link]. [Full Text].
de Silva DJ, Khaw PT, Brookes JL. Long-term outcome of primary congenital glaucoma. J AAPOS. 2011 Apr. 15(2):148-52. [QxMD MEDLINE Link].
Tawara A, Inomata H. Developmental immaturity of the trabecular meshwork in juvenile glaucoma. Am J Ophthalmol. 1984 Jul 15. 98(1):82-97. [QxMD MEDLINE Link].
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. 1998 Apr 9. 338(15):1022-7. [QxMD MEDLINE Link].
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. 2003 Jul. 121(7):1034-8. [QxMD MEDLINE Link].
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. 2011 Oct. 52(11):8433-7. [QxMD MEDLINE Link].
Melamed S, Ashkenazi I. Juvenile-onset open angle glaucoma. Albert D, Jakobiec F, ed. Principles and Practice of Ophthalmology. Philadelphia: WB Saunders Co; 1994. 1345-9.
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. 2005 Mar. 26(1):17-23. [QxMD MEDLINE Link].
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. 1997 Jan 31. 275(5300):668-70. [QxMD MEDLINE Link].
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. 2001 Aug. 10(4):329-39. [QxMD MEDLINE Link].
Tsai JC, Chang HW, Kao CN, Lai IC, Teng MC. Trabeculectomy with mitomycin C versus trabeculectomy alone for juvenile primary open-angle glaucoma. Ophthalmologica. 2003 Jan-Feb. 217(1):24-30. [QxMD MEDLINE Link].
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. 1995 Dec. 102(12):1782-9. [QxMD MEDLINE Link].
Gupta V, Somarajan BI, Gupta S, Chaurasia AK, Kumar S, Dutta P, et al. The inheritance of juvenile onset primary open angle glaucoma. Clin Genet. 2017 Aug. 92 (2):134-142. [QxMD MEDLINE Link].
Kwun Y, Lee EJ, Han JC, Kee C. Clinical Characteristics of Juvenile-onset Open Angle Glaucoma. Korean J Ophthalmol. 2016 Apr. 30 (2):127-33. [QxMD MEDLINE Link].
Gupta V, Markan A, Somarajan BI, Sihota R, Gupta A, Gupta S, et al. Phenotypic differences between familial versus non-familial Juvenile onset open angle glaucoma patients. Ophthalmic Genet. 2018 Jan-Feb. 39 (1):63-67. [QxMD MEDLINE Link].
Gupta V, James MK, Singh A, Kumar S, Gupta S, Sharma A, et al. Differences in Optic Disc Characteristics of Primary Congenital Glaucoma, Juvenile, and Adult Onset Open Angle Glaucoma Patients. J Glaucoma. 2016 Mar. 25 (3):239-43. [QxMD MEDLINE Link].
Gupta V, Ghosh S, Sujeeth M, Chaudhary S, Gupta S, Chaurasia AK, et al. Selective laser trabeculoplasty for primary open-angle glaucoma patients younger than 40 years. Can J Ophthalmol. 2018 Feb. 53 (1):81-85. [QxMD MEDLINE Link].
Lim ME, Dao JB, Freedman SF. 360-Degree Trabeculotomy for Medically Refractory Glaucoma Following Cataract Surgery and Juvenile Open-Angle Glaucoma. Am J Ophthalmol. 2017 Mar. 175:1-7. [QxMD MEDLINE Link].

Media Gallery

of 0

Author

Andrew A Dahl, MD, FACS Assistant Professor of Surgery (Ophthalmology), New York College of Medicine (NYCOM); Director of Residency Ophthalmology Training, The Institute for Family Health and Mid-Hudson Family Practice Residency Program; Staff Ophthalmologist, Telluride Medical Center

Andrew A Dahl, MD, FACS is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, American Intraocular Lens Society, American Medical Association, American Society of Cataract and Refractive Surgery, Contact Lens Association of Ophthalmologists, Medical Society of the State of New York, New York State Ophthalmological Society, Outpatient Ophthalmic Surgery Society

Disclosure: Nothing to disclose.

Specialty Editor Board

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

Disclosure: Received salary from Medscape for employment. for: Medscape.

Martin B Wax, MD Professor, Department of Ophthalmology, University of Texas Southwestern Medical School; Vice President, Research and Development, Head, Ophthalmology Discovery Research and Preclinical Sciences, Alcon Laboratories, Inc

Martin B Wax, MD is a member of the following medical societies: American Academy of Ophthalmology, American Glaucoma Society, Society for Neuroscience

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, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Additional Contributors

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, American Ophthalmological Society

Disclosure: Nothing to disclose.

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, American Ophthalmological Society

Disclosure: Nothing to disclose.

Juvenile Glaucoma Clinical Presentation

History

Physical

Causes

Physical Examination

References

Tables

Contributor Information and Disclosures

What would you like to print?