Primary juvenile glaucoma: Difference between revisions
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#REDIRECT [[Primary congenital glaucoma]] |
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'''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.<ref name="pmid8554064">{{cite journal|last1=Wiggs|first1=JL|last2=Damji|first2=KF|last3=Haines|first3=JL|last4=Pericak-Vance|first4=MA|last5=Allingham|first5=RR|title=The distinction between juvenile and adult-onset primary open-angle glaucoma.|journal=American journal of human genetics|date=Jan 1996 |volume=58|issue=1|pages=243-4|pmid=8554064|pmc=1914955}}</ref> 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.<ref name=yanoff /> |
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== Ocular manifestations == |
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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 (medicine)|epiphora]] (excessive tearing), blepharospasm and photophobia may be missed until the corneal edema becomes apparent.<ref name=yanoff>{{cite book|last=Yanoff|first=Myron|first2=Jay S.|last2=Duker|title=Ophthalmology|year=2009|publisher=Mosby Elsevier|isbn=9780323043328|edition=3rd}}</ref> |
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== Diagnosis == |
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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.<ref name=yanoff /> [[Buphthalmos]] and [[Haab's striae]] can often be seen in case of congenital glaucoma. |
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==Genetics== |
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Some pedigrees suggest inherited primary congenital is autosomal dominant but three major autosomal recessive loci have been identified: |
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* GLC3A – on chromosome 2 (2p21) |
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* GLC3B – on chromosome 1 (1p36) |
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* GLC3C – on chromosome 14 (14q24.3) |
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==Differential diagnosis== |
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Corneal cloudiness may have a myriad of causes. Corneal opacity that results from hereditary dystrophies is usually symmetric. |
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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. |
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==Systemic associations== |
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Two of the more commonly encountered disorders that may be associated with congenital glaucoma are [[Aniridia]] and [[Sturge-Weber syndrome]]. |
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==Treatment== |
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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 |
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effects on the lens and the retina.<ref name=ao>{{cite book|last=Basic and clinical science course|title=Glaucoma|year=2011–2012|publisher=American Academy of Ophthalmology|isbn=978-1615251179}}</ref> |
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==Epidemiology== |
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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 among Gypsies 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.<ref>[http://www.aao.org/publications/eyenet/201003/pearls.cfm Diagnosis and Treatment of Primary Congenital Glaucoma]</ref> |
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;Congenital glaucoma |
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* Incidence: one in every 10000-15000 live births. |
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* Bilateral in up to 80% of cases. |
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* Most cases are sporadic (90%). However, in the remaining 10% there appears to be a strong familial component. |
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==See also== |
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* [[Axenfeld syndrome]] |
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* [[Peters-plus syndrome]] |
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* [[Weill–Marchesani syndrome]] |
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==References== |
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{{reflist}} |
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==Further reading== |
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* Lively GD, Alward, WL, Fingert JH. [http://www.EyeRounds.org/cases/87-Myocilin-juvenile-open-angle-glaucoma.htm Juvenile open-angle glaucoma: 22-year-old Caucasian female referred in 1990 for evaluation of elevated intraocular pressure (IOP)]. EyeRounds.org. September 17, 2008. |
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==External links== |
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* {{OMIM2|231300}} |
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* {{OMIM2|137750}}; [[MYOC]] |
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* {{OMIM2|137750}}; [[CYP1B1]] |
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* {{eMedicine|article|1207051|Juvenile Glaucoma}} on [[eMedicine]] |
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* [http://www.aapos.org/terms/conditions/55 Glaucoma for Children] on AAPOS. |
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* [[Primary juvenile glaucoma|Congenital Primary Glaucoma]] on patient.info |
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* [http://www.ncbi.nlm.nih.gov/books/NBK1135/ GeneReview/NCBI/NIH/UW entry on Primary Congenital Glaucoma] |
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* [http://pgcfa.org/?page_id=19 Glaucoma entry on PGCFA] |
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{{Eye pathology}} |
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{{Congenital malformations and deformations of eye, ear, face and neck}} |
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[[Category:Congenital disorders of eyes]] |
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[[Category:Glaucoma| ]] |
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[[Category:Blindness]] |
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[[Category:Pediatrics]] |
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Latest revision as of 03:59, 30 November 2024
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