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.[1] 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.[2]
Contents
1Presentation
1.1Systemic associations
2Genetics
3Diagnosis
3.1Differential diagnosis
4Treatment
5Epidemiology
6See also
7References
8Further reading
9External 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.[2]
Systemic associations
Two of the more commonly encountered disorders that may be associated with congenital glaucoma are Aniridia and Sturge-Weber syndrome.
Genetics
Some pedigrees suggest inherited primary congenital is autosomal dominant but three major autosomal recessive loci have been identified:
GLC3A – on chromosome 2 (2p21)
GLC3B – on chromosome 1 (1p36)
GLC3C – on chromosome 14 (14q24.3)
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.[2] Buphthalmos and Haab's striae can often be seen in case of congenital glaucoma.
Differential diagnosis
Corneal cloudiness may have a 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.
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.[3]
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.[4]
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
^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.
^ abcYanoff, Myron; Duker, Jay S. (2009). Ophthalmology (3rd ed.). Mosby Elsevier. ISBN 9780323043328.
^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
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
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
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
…sometimes is made between glaucoma that is present at birth (true congenital glaucoma) and glaucoma that has onset in the first two to three years of life (infantile glaucoma) because the prognosis differs …
… eye may be a sign of infantile glaucoma. At a given IOP elevation, cupping increases more rapidly in infants than in adults . However, in contrast to adults, infants with glaucoma may have a reduction …
… suggestive of glaucoma. Small asymmetries in corneal size are often easily detected. However, symmetric increases in corneal diameter often go unnoticed until other signs or symptoms develop. Infants and children …
… optimal visual outcome. Pediatricglaucoma is classified into primary and secondary types to provide a framework for the evaluation and management of individual patients Primary glaucomas are those with isolated …
… also associated with abusive head trauma in infants and young children ,… of increased intraocular pressure as for acute angle closure glaucoma Pain control (parenteral opioids,…
English Journal
A multicentre retrospective study of Charcot-Marie-Tooth disease type 4B (CMT4B) due to mutations in Myotubularin-related proteins (MTMRs).
Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, Latour P, Solé G, Megarbane A, Horvath R, Ricci G, Choi BO, Schenone A, Gemelli C, Geroldi A, Sabatelli M, Luigetti M, Santoro L, Manganelli F, Quattrone A, Valentino P, Murakami T, Scherer SS, Dankwa L, Shy ME, Bacon CJ, Herrmann DN, Zambon A, Tramacere I, Pisciotta C, Magri S, Previtali SC, Bolino A.
Annals of neurology. 2019 May;().
Charcot-Marie-Tooth disease 4B1 and 4B2 (CMT4B1/B2) are characterized by recessive inheritance, early onset, severe course, slowed nerve conduction, and myelin outfoldings. CMT4B3 shows a more heterogeneous phenotype. All are associated with Myotubularin-related proteins (MTMRs) mutations. We conduc
Prospective analysis of the predictors of glaucoma following surgery for congenital and infantile cataract.
Balekudaru S, Agarkar S, Guha S, Mayee RC, Viswanathan N, Pandey A, Singh M, Lingam V, George R.
Eye (London, England). 2019 May;33(5)796-803.
A prospective longitudinal cohort study was performed to assess the incidence of and risk factors for the development of glaucoma following surgery for congenital/infantile cataract. One hundred and one eyes of one hundred and one children, ≤12 years of age who had follow-up of ≥24 months were i
Preoperative administration of propranolol reduced the surgical risks of PHACES syndrome in a 14-month-old girl.
Rokugo Y, Ota C, Kimura M, Sasahara Y.
BMJ case reports. 2019 Apr;12(4).
PHACES syndrome is an uncommon neurocutaneous disorder first identified in 1996. Patients with PHACES syndrome often require surgical treatment for their anomalies, including intracranial vasculopathy, coarctation/interruption of the aorta, intracardiac defects, glaucoma/cataract and sternal defects
… The clinical data on 136 patients with infantileglaucoma were reviewed. … The incidence of primary glaucoma and secondary glaucoma was at a ratio of 7:3. … Bilateral and unilateral glaucoma was also seen at a ratio of 2:1. … Secondary glaucoma occurred similarly in males and females. …
Primary congenital, or infantile, glaucoma is elevated intraocular pressure with onset in the first year of life. It occurs in about 1 out of 10,000 births and results in blindness in approximately 10% of cases and reduced vision (worse ...
REFERENCES Kipp MA. Childhood glaucoma. Pediatr Clin North Am 2003; 50:89. Russell-Eggitt IM, Rice NS, Jay B, Wyse RK. Relapse following goniotomy for congenital glaucoma due to trabecular dysgenesis. Eye (Lond) 1992 ...