Primary juvenile glaucoma

Primary juvenile glaucoma

A child with right eye buphthalmos, developed due to congenital glaucoma.
Specialty	Ophthalmology
Treatment	Goniotomy, 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]

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]

YouTube Encyclopedic

1/5
Views:
361 831
1 103
814
8 184
1 096

Transcription

Glaucoma is a group of eye diseases in which the optic nerve is damaged leading to irreversible loss of vision. In most cases, this damage is due to an increased pressure within the eye. The eye produces a fluid called aqueous humor which is secreted by the ciliary body into the posterior chamber - a space between the iris and the lens. It then flows through the pupil into the anterior chamber between the iris and the cornea. From here, it drains through a sponge-like structure located at the base of the iris called the trabecular meshwork and leaves the eye. In a healthy eye, the rate of secretion balances the rate of drainage. In people with glaucoma, the drainage canal is partially or completely blocked. Fluid builds up in the chambers and this increases pressure within the eye. The pressure drives the lens back and presses on the vitreous body which in turn compresses and damages the blood vessels and nerve fibers running at the back of the eye. These damaged nerve fibers result in patches of vision loss, and if left untreated, may lead to total blindness. There are two main types of glaucoma: open-angle and angle-closure. Open-angle glaucoma , or chronic glaucoma, is caused by partial blockage of the drainage canal. The angle between the cornea and the iris is "open", meaning the entrance to the drain is clear, but the flow of aqueous humor is somewhat slow. The pressure builds up gradually in the eye over a long period of time. Symptoms appear gradually, starting from peripheral vision loss, and may go on unnoticed until the central vision is affected. Progression of glaucoma can be stopped with medical treatments, but part of vision that is already lost can not be restored. This is why it's very important to detect signs of glaucoma early with regular eye exams. Angle-closure glaucoma, or acute glaucoma, is caused by a sudden and complete blockage of aqueous humor drainage. The pressure within the eye rises rapidly and may lead to total vision loss quickly. Certain anatomical features of the eye such as narrow drainage angle, shallow anterior chamber, thin and droopy iris, make it easier to develop acute glaucoma. Typically, this happens when the pupil is dilated and the lens is stuck to the back of the iris. This prevents the aqueous humor from flowing through the pupil into the anterior chamber. Accumulation of fluid in the posterior chamber presses on the iris causing it to bulge outward and block the drainage angle completely. Acute angle-closure glaucoma is a medical emergency and requires immediate attention.

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

Incidence: one in every 10000-15000 live births.
Bilateral in up to 80% of cases.
Most cases are sporadic (90%). However, in the remaining 10% there appears to be a strong familial component.

References

^ "The glaucomas". Parsons' diseases of the eye (22nd ed.). New Delhi, India: Elsevier. 15 July 2015. ISBN 978-81-312-3818-9.
^ ^a ^b ^c ^d 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.
^ ^a ^b 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.
^ ^a ^b 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.
^ ^a ^b ^c Yanoff, Myron; Duker, Jay S. (2009). Ophthalmology (3rd ed.). Mosby Elsevier. ISBN 9780323043328.
^ 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.
^ 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.
^ Basic and clinical science course (2011–2012). Glaucoma. American Academy of Ophthalmology. ISBN 978-1615251179.
^ Diagnosis and Treatment of Primary Congenital Glaucoma Archived 2014-10-19 at the Wayback Machine

Diseases of the human eye

Adnexa

Eyelid

Inflammation	Stye Chalazion Blepharitis Meibomian gland dysfunction
Entropion Ectropion Lagophthalmos Blepharochalasis Ptosis Blepharophimosis Xanthelasma Ankyloblepharon
Eyelash	Trichiasis Madarosis Distichiasis Trichomegaly

Iris Ciliary body	Uveitis Intermediate uveitis Hyphema Rubeosis iridis Persistent pupillary membrane Iridodialysis Synechia
Choroid	Choroideremia Choroiditis Chorioretinitis Focal choroidal excavation Polypoidal choroidal vasculopathy

Lens

Retina

Other

Pathways

Optic nerve
Optic disc

Optic neuritis optic papillitis Papilledema Foster Kennedy syndrome Optic atrophy Optic disc drusen
Optic neuropathy	Ischemic anterior (AION) posterior (PION) Kjer's Leber's hereditary Toxic and nutritional

Strabismus
Extraocular muscles
Binocular vision
Accommodation

Paralytic strabismus

Ophthalmoparesis Chronic progressive external ophthalmoplegia Kearns–Sayre syndrome
palsies	Oculomotor (III) Fourth-nerve (IV) Sixth-nerve (VI)

Other strabismus

Other binocular

Refraction

Vision disorders
Blindness

Amblyopia Leber's congenital amaurosis Diplopia Scotoma Color blindness Achromatopsia Dichromacy Monochromacy Nyctalopia Oguchi disease Blindness / Vision loss / Visual impairment
Anopsia	Hemianopsia binasal bitemporal homonymous Quadrantanopia
subjective	Asthenopia Hemeralopia Photophobia Scintillating scotoma

Pupil

Other

Infections
Trachoma Onchocerciasis

Congenital malformations and deformations of eyes