先天性緑内障、先天緑内障
WordNet
- an eye disease that damages the optic nerve and impairs vision (sometimes progressing to blindness); "contrary to popular belief, glaucoma is not always caused by elevated intraocular pressure"
- present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate
PrepTutorEJDIC
- あおそこひ,緑内障(視力が減退する眼病)
- (病気・身体的欠陥など)生まれつきの,先天的な
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2017/11/29 05:26:32」(JST)
[Wiki en表示]
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
- 1 Ocular manifestations
- 2 Diagnosis
- 3 Genetics
- 4 Differential diagnosis
- 5 Systemic associations
- 6 Treatment
- 7 Epidemiology
- 8 See also
- 9 References
- 10 Further reading
- 11 External links
Ocular manifestations
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]
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.
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)
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.
Systemic associations
Two of the more commonly encountered disorders that may be associated with congenital glaucoma are Aniridia and Sturge-Weber syndrome.
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 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.[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.
- ^ a b c Yanoff, 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
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
|
Congenital malformations and deformations of eyes (Q10–Q15, 743)
|
| 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 |
|
| Iris |
|
| Anterior segment |
|
| Cornea |
- Keratoglobus
- Megalocornea
|
| Other |
- Buphthalmos
- Coloboma (Coloboma of optic nerve)
- Hydrophthalmos
- Norrie disease
|
|
UpToDate Contents
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English Journal
- "Lowe syndrome: A particularly severe phenotype without clinical kidney involvement".
- Abdalla E1, El-Beheiry A2, Dieterich K3, Thevenon J3, Fauré J4,5, Rendu J4,5.
- American journal of medical genetics. Part A.Am J Med Genet A.2018 Feb;176(2):460-464. doi: 10.1002/ajmg.a.38572. Epub 2017 Dec 11.
- PMID 29226564
- [Phakomatosis pigmentovascularis cesioflammea: a case report].
- Viada Peláez MC1, Stefano PC2, Cirio A2, Cervini AB2.
- Archivos argentinos de pediatria.Arch Argent Pediatr.2018 Feb 1;116(1):e121-e124. doi: 10.5546/aap.2018.e121.
- PMID 29333836
- MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.
- Iacovazzo D1, Flanagan SE2, Walker E3, Quezado R4, de Sousa Barros FA4, Caswell R2, Johnson MB2, Wakeling M2, Brändle M5, Guo M3, Dang MN1, Gabrovska P1, Niederle B6, Christ E7, Jenni S8, Sipos B9, Nieser M9, Frilling A10, Dhatariya K11, Chanson P12,13, de Herder WW14, Konukiewitz B15, Klöppel G15, Stein R3, Korbonits M16, Ellard S2.
- Proceedings of the National Academy of Sciences of the United States of America.Proc Natl Acad Sci U S A.2018 Jan 16. pii: 201712262. doi: 10.1073/pnas.1712262115. [Epub ahead of print]
- PMID 29339498
Japanese Journal
- Bilateral anterior segment dysgenesis with the presumed Peters' anomaly in a cat
- 神経線維腫症1型を伴う発達緑内障にBaerveldt緑内障インプラントを挿入した乳児の2例
- 先天無虹彩に伴う緑内障に対しバルベルト緑内障インプラントが有効であった1例 (第70回 日本臨床眼科学会講演集(1))
Related Links
- congenital glaucoma (infantile glaucoma) a congenital type that may be fully developed at birth with enlarged eyes and hazy corneas, or may develop at any time ... juvenile glaucoma congenital glaucoma differing from the infantile ...
- Primary congenital glaucoma (PCG) is an eye disease that affects children between the ages of birth and 3 years. It is one type of glaucoma. Glaucoma refers to a group of diseases in which there is permanent and characteristic damage to the optic nerve which is usually associated with abnormally high ...
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- 英
- congenital glaucoma
- 同
- 先天性緑内障
- 関
- 牛眼
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国試
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- 関
- congenital、congenitally
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