Primary juvenile glaucoma

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Primary juvenile glaucoma
Buphthalmus.jpg
A child with right eye buphthalmos, developed due to congenital glaucoma.
Specialty Ophthalmology
TreatmentGoniotomy, trabeculotomy [1]

Primary juvenile glaucoma is a subtype of primary congenital glaucoma [2] that develops due to ocular hypertension and is diagnosed between three years of age and early adulthood. [3] [4] It is caused due to abnormalities in the anterior chamber angle development that obstruct aqueous outflow in the absence of systemic anomalies or other ocular malformation. [5]

Contents

Juvenile glaucoma becomes clinically apparent after three years of age and before age 40, according to certain authors. [3] Infantile glaucoma presents between one month and three years, while true congenital glaucoma causes signs of increased intraocular pressure within the first month of life. [2] True congenital glaucoma, infantile glaucoma and juvenile glaucoma together constitute the primary congenital glaucomas. [2]

Presentation

The typical infant who has congenital glaucoma usually is initially referred to an ophthalmologist because of apparent corneal edema. The commonly described triad of epiphora (excessive tearing), blepharospasm and photophobia may be missed until the corneal edema becomes apparent. [5]

Systemic associations

Two of the more commonly encountered disorders that may be associated with congenital glaucoma are Aniridia and Sturge–Weber syndrome.[ citation needed ]

Genetics

Primary congenital glaucomas most commonly occur sporadically. [2] Juvenile open-angle glaucoma is typically an autosomal dominant, inherited condition. [4] [6] A primary cause is myocilin protein dysfunction. [7] Myocilin gene mutations are identified in approximately 10% of patients affected by juvenile glaucoma.[ citation needed ]

Diagnosis

The diagnosis is clinical. The intraocular pressure (IOP) can be measured in the office in a conscious swaddled infant using a Tonopen or hand-held Goldmann tonometer. Usually, the IOP in normal infants is in the range of 11-14 mmHg. [5] Buphthalmos and Haab's striae can often be seen in case of congenital glaucoma.[ citation needed ]

Differential diagnosis

Corneal cloudiness may have myriad of causes. Corneal opacity that results from hereditary dystrophies is usually symmetric. Corneal enlargement may result from megalocornea, a condition in which the diameter of the cornea is larger than usual and the eye is otherwise normal.[ citation needed ]

Treatment

The preferred treatment of congenital glaucoma is surgical, not medical. The initial procedures of choice are goniotomy or trabeculotomy if the cornea is clear, and trabeculectomy ab externo if the cornea is hazy. The success rates are similar for both procedures in patients with clear corneas. Trabeculectomy and shunt procedures should be reserved for those cases in which goniotomy or trabeculotomy has failed. Cyclophotocoagulation is necessary in some intractable cases but should be avoided whenever possible because of its potential adverse effects on the lens and the retina. [8]

Epidemiology

In the United States, the incidence of primary congenital glaucoma is about one in 10,000 live births. Worldwide, the incidence ranges from a low of 1:22,000 in Northern Ireland to a high of 1:2,500 in Saudi Arabia and 1:1,250 in Romania. In about two-thirds of cases, it is bilateral. The distribution between males and females varies with geography. In North America and Europe, it is more common in boys, whereas in Japan it is more common in girls. [9]

Congenital glaucoma

See also

Related Research Articles

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<span class="mw-page-title-main">Intraocular pressure</span> Fluid pressure inside the eye

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<span class="mw-page-title-main">Ocular tonometry</span>

Tonometry is the procedure eye care professionals perform to determine the intraocular pressure (IOP), the fluid pressure inside the eye. It is an important test in the evaluation of patients at risk from glaucoma. Most tonometers are calibrated to measure pressure in millimeters of mercury (mmHg), with the normal eye pressure range between 10 and 21 mmHg (13–28 hPa).

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<span class="mw-page-title-main">Buphthalmos</span> Medical condition

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<span class="mw-page-title-main">Myocilin</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">Corneal opacity</span> Medical condition

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<span class="mw-page-title-main">Secondary glaucoma</span>

Secondary glaucoma is a collection of progressive optic nerve disorders associated with a rise in intraocular pressure (IOP) which results in the loss of vision. In clinical settings, it is defined as the occurrence of IOP above 21 mmHg requiring the prescription of IOP-managing drugs. It can be broadly divided into two subtypes: secondary open-angle glaucoma and secondary angle-closure glaucoma, depending on the closure of the angle between the cornea and the iris. Principal causes of secondary glaucoma include optic nerve trauma or damage, eye disease, surgery, neovascularization, tumours and use of steroid and sulfa drugs. Risk factors for secondary glaucoma include uveitis, cataract surgery and also intraocular tumours. Common treatments are designed according to the type and the underlying causative condition, in addition to the consequent rise in IOP. These include drug therapy, the use of miotics, surgery or laser therapy.

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References

  1. "The glaucomas". Parsons' diseases of the eye (22nd ed.). New Delhi, India: Elsevier. 15 July 2015. ISBN   978-81-312-3818-9.
  2. 1 2 3 4 Kaur, Kirandeep; Gurnani, Bharat (11 June 2023). "Primary Congenital Glaucoma". StatPearls. Treasure Island, Florida: StatPearls Publishing. PMID   34662067. NBK574553. Retrieved 1 October 2023 via National Libraries of Medicine.
  3. 1 2 Morisette J, Côté G, Anctil JL, Plante M, Amyot M, Héon E, Trope GE, Weissenbach J, Raymond V (1995). "A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q". American Journal of Human Genetics. 56 (6): 1431–1442. PMC   1801110 . PMID   7762566.
  4. 1 2 Wiggs, JL; Damji, KF; Haines, JL; Pericak-Vance, MA; Allingham, RR (Jan 1996). "The distinction between juvenile and adult-onset primary open-angle glaucoma". American Journal of Human Genetics. 58 (1): 243–4. PMC   1914955 . PMID   8554064.
  5. 1 2 3 Yanoff, Myron; Duker, Jay S. (2009). Ophthalmology (3rd ed.). Mosby Elsevier. ISBN   9780323043328.
  6. Chardoub, Abd Alkader Jafer; Blair, Kyle (26 December 2022). "Juvenile Glaucoma". StatPearls. Treasure Island, Florida: StatPearls Publishing. PMID   32965934. NBK562263. Retrieved 1 October 2023 via National Libraries of Medicine.
  7. Turalba AV, Chen TC (2008). "Clinical and Genetic Characteristics of Primary Juvenile-Onset Open-Angle Glaucoma (JOAG)". Seminars in Ophthalmology. 23 (1): 19–25. doi:10.1080/08820530701745199. PMID   18214788. S2CID   12527263.
  8. Basic and clinical science course (2011–2012). Glaucoma. American Academy of Ophthalmology. ISBN   978-1615251179.
  9. Diagnosis and Treatment of Primary Congenital Glaucoma Archived 2014-10-19 at the Wayback Machine

Further reading