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]

## Contents

* 1 Presentation
* 1.1 Systemic associations
* 2 Genetics
* 3 Diagnosis
* 3.1 Differential diagnosis
* 4 Treatment
* 5 Epidemiology
* 6 See also
* 7 References
* 8 Further reading
* 9 External links

## 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.

## See also

* Axenfeld syndrome
* Peters-plus syndrome
* Weill–Marchesani syndrome

## 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. ↑ 2.0 2.1 2.2 2.3 Kaur, Kirandeep; Gurnani, Bharat (11 June 2023). "Primary Congenital Glaucoma". StatPearls. Treasure Island, Florida: StatPearls Publishing. NBK574553. https://www.ncbi.nlm.nih.gov/books/NBK574553/. Retrieved 1 October 2023.
3. ↑ 3.0 3.1 "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. 1995. PMID 7762566.
4. ↑ 4.0 4.1 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. PMID 8554064.
5. ↑ 5.0 5.1 5.2 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. NBK562263. https://www.ncbi.nlm.nih.gov/books/NBK562263/. Retrieved 1 October 2023.
7. ↑ "Clinical and Genetic Characteristics of Primary Juvenile-Onset Open-Angle Glaucoma (JOAG)". Seminars in Ophthalmology 23 (1): 19-25. 2008. doi:10.1080/08820530701745199. PMID 18214788.
8. ↑ Basic and clinical science course (2011–2012). Glaucoma. American Academy of Ophthalmology. ISBN 978-1615251179.
9. ↑ Diagnosis and Treatment of Primary Congenital Glaucoma

## Further reading

* Lively GD, Alward, WL, Fingert JH. Juvenile open-angle glaucoma: 22-year-old Caucasian female referred in 1990 for evaluation of elevated intraocular pressure (IOP). EyeRounds.org. September 17, 2008.

## External links

* Online Mendelian Inheritance in Man (OMIM) 231300
* Online Mendelian Inheritance in Man (OMIM) 137750; MYOC
* Online Mendelian Inheritance in Man (OMIM) 137750; CYP1B1
* Juvenile Glaucoma at eMedicine on eMedicine
* Glaucoma for Children on AAPOS.
* Congenital Primary Glaucoma on patient.info
* GeneReview/NCBI/NIH/UW entry on Primary Congenital Glaucoma
* Glaucoma entry on PGCFA

* v
* t
* e

* Diseases of the human eye (H00–H59
* 360–379)

Adnexa

| Eyelid|

| Inflammation|

* Stye
* Chalazion
* Blepharitis

|

* Entropion
* Ectropion
* Lagophthalmos
* Blepharochalasis
* Ptosis
* Blepharophimosis
* Xanthelasma

Eyelash|

* Trichiasis
* Madarosis

Lacrimal apparatus|

* Dacryoadenitis
* Epiphora
* Dacryocystitis
* Xerophthalmia

Orbit|

* Exophthalmos
* Enophthalmos
* Orbital cellulitis
* Orbital lymphoma
* Periorbital cellulitis

Conjunctiva|

* Conjunctivitis
* allergic
* Pterygium
* Pinguecula
* Subconjunctival hemorrhage

Globe

| Fibrous tunic|

| Sclera|

* Scleritis
* Episcleritis

|

Cornea|

* Keratitis
* herpetic
* acanthamoebic
* fungal
* Corneal ulcer
* Photokeratitis
* Thygeson's superficial punctate keratopathy
* Corneal dystrophy
* Fuchs'
* Meesmann
* Corneal ectasia
* Keratoconus
* Pellucid marginal degeneration
* Keratoglobus
* Terrien's marginal degeneration
* Post-LASIK ectasia
* Keratoconjunctivitis
* sicca
* Corneal neovascularization
* Kayser–Fleischer ring
* Haab's striae
* Arcus senilis
* Band keratopathy

Vascular tunic|

* Iris
* Ciliary body

* Uveitis
* Intermediate uveitis
* Hyphema
* Rubeosis iridis
* Persistent pupillary membrane
* Iridodialysis
* Synechia

|

Choroid|

* Choroideremia
* Choroiditis
* Chorioretinitis

Lens|

* Cataract
* Congenital cataract
* Childhood cataract
* Aphakia
* Ectopia lentis

Retina|

* Retinitis
* Chorioretinitis
* Cytomegalovirus retinitis
* Retinal detachment
* Retinoschisis
* Ocular ischemic syndrome / Central retinal vein occlusion
* Central retinal artery occlusion
* Branch retinal artery occlusion
* Retinopathy
* diabetic
* hypertensive
* Purtscher's
* of prematurity
* Bietti's crystalline dystrophy
* Coats' disease
* Macular degeneration
* Retinitis pigmentosa
* Retinal haemorrhage
* Central serous retinopathy
* Macular edema
* Epiretinal membrane (Macular pucker)
* Vitelliform macular dystrophy
* Leber's congenital amaurosis
* Birdshot chorioretinopathy

Other|

* Glaucoma / Ocular hypertension / Primary juvenile glaucoma
* Floater
* Leber's hereditary optic neuropathy
* Red eye
* Globe rupture
* Keratomycosis
* Phthisis bulbi
* Persistent fetal vasculature / Persistent hyperplastic primary vitreous
* Persistent tunica vasculosa lentis
* Familial exudative vitreoretinopathy

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|

* Esotropia / Exotropia
* Hypertropia
* Heterophoria
* Esophoria
* Exophoria
* Cyclotropia
* Brown's syndrome
* Duane syndrome

Other binocular|

* Conjugate gaze palsy
* Convergence insufficiency
* Internuclear ophthalmoplegia
* One and a half syndrome

Refraction|

* Refractive error
* Hyperopia
* Myopia
* Astigmatism
* Anisometropia / Aniseikonia
* Presbyopia

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|

* Anisocoria
* Argyll Robertson pupil
* Marcus Gunn pupil
* Adie syndrome
* Miosis
* Mydriasis
* Cycloplegia
* Parinaud's syndrome

Other|

* Nystagmus
* Childhood blindness

Infections

* Trachoma
* Onchocerciasis

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