Primary juvenile glaucoma

A child with right eye buphthalmos, developed due to congenital glaucoma.
Specialty| Ophthalmology
Treatment| Goniotomy, trabeculotomy[1]

Primary juvenile glaucoma is glaucoma that develops due to ocular hypertension and is evident either at birth or within the first few years of life.[2] 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.[3]

## Contents

* 1 Signs and symptoms
* 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

## Signs and symptoms[edit | edit source]

Primary congenital glaucoma[4]

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.[3]

### Systemic associations[edit | edit source]

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

## Genetics[edit | edit source]

JOAG is an autosomal dominant condition. The primary cause is the myocilin protein dysfunction. Myocilin gene mutations are identified in approximately 10% of patients affected by juvenile glaucoma.

## Diagnosis[edit | edit source]

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.[3] Buphthalmos and Haab's striae can often be seen in case of congenital glaucoma.[citation needed]

### Differential diagnosis[edit | edit source]

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[edit | edit source]

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.[5]

## Epidemiology[edit | edit source]

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.[6]

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[edit | edit source]

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

## References[edit | edit source]

1. ↑ "The glaucomas". Parsons' diseases of the eye (22nd ed.). New Delhi, India: Elsevier. 15 July 2015. ISBN 978-81-312-3818-9.
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.
3. ↑ 3.0 3.1 3.2 Yanoff, Myron; Duker, Jay S. (2009). Ophthalmology (3rd ed.). Mosby Elsevier. ISBN 9780323043328.
4. ↑ Abu-Amero, Khaled K.; Edward, Deepak P. (1993). "Primary Congenital Glaucoma". GeneReviews®. University of Washington, Seattle. Archived from the original on 31 July 2020. Retrieved 18 July 2022.
5. ↑ Basic and clinical science course (2011–2012). Glaucoma. American Academy of Ophthalmology. ISBN 978-1615251179.
6. ↑ Diagnosis and Treatment of Primary Congenital Glaucoma Archived 2014-10-19 at the Wayback Machine

## Further reading[edit | edit source]

* 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) Archived 2021-04-11 at the Wayback Machine. EyeRounds.org. September 17, 2008.

## External links[edit | edit source]

* 231300
* 137750; MYOC
* 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 Archived 2020-07-31 at the Wayback Machine
* Glaucoma entry on PGCFA Archived 2016-11-12 at the Wayback Machine

* v
* t
* e

* 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

Lacrimal apparatus|

* Dacryoadenitis
* Epiphora
* Dacryocystitis
* Xerophthalmia

Orbit|

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

Conjunctiva|

* Conjunctivitis
* allergic
* Pterygium
* Pseudopterygium
* Pinguecula
* Subconjunctival hemorrhage

Globe

| Fibrous tunic|

| Sclera|

* Scleritis
* Episcleritis

|

Cornea|

* Keratitis
* herpetic
* acanthamoebic
* fungal
* Exposure
* Photokeratitis
* Corneal ulcer
* 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 opacity
* 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
* Focal choroidal excavation
* Polypoidal choroidal vasculopathy

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
* Sickle cell
* 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
* Ocular hypotony
* 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

* v
* t
* e

Congenital malformations and deformations of eyes

Adnexa|

| Eyelid|

* Ptosis
* Ectropion
* Entropion
* Distichia
* Blepharophimosis
* Ablepharon
* Marcus Gunn phenomenon

|

Lacrimal apparatus|

* Congenital lacrimal duct obstruction

Globe|

| Entire eye|

* Anophthalmia (Cystic eyeball, Cryptophthalmos)
* Microphthalmia

|

Lens|

* Ectopia lentis
* Aphakia

Iris|

* Aniridia

Anterior segment|

* Axenfeld–Rieger syndrome

Cornea|

* Keratoglobus
* Megalocornea

Other|

* Buphthalmos
* Coloboma (Coloboma of optic nerve)
* Hydrophthalmos
* Norrie disease

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