WordNet

an eye disease that involves the clouding or opacification of the natural lens of the eye
a large waterfall; violent rush of water over a precipice
present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate

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〈C〉大滝 / 〈C〉《複数形で》奔流 / 〈U〉〈C〉白内障,白そこひ
(病気・身体的欠陥など)生まれつきの,先天的な

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/05/31 06:25:02」(JST)

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Congenital cataract in an adult

The term congenital cataract refers to a lens opacity present at birth. Congenital cataracts cover a broad spectrum of severity: whereas some lens opacities do not progress and are visually insignificant, others can produce profound visual impairment.

Congenital cataracts may be unilateral or bilateral. They can be classified by morphology, presumed or defined genetic etiology, presence of specific metabolic disorders, or associated ocular anomalies or systemic findings.^[1]

Epidemiology

Congenital cataract are responsible for nearly 10% of all vision loss in children world wide.
Congenital cataract are one of the most common treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of 1 to 6 cases per 10,000 live births.

Morphologic configurations

Congenital cataracts occur in a variety of morphologic configurations, including lamellar, polar, sutural, coronary, cerulean, nuclear, capsular, complete, membranous.

Etiology

In general, approximately one-third of congenital cataracts are a component of a more extensive syndrome or disease (e.g., cataract resulting from congenital rubella syndrome), one-third occur as an isolated inherited trait, and one-third result from undetermined causes. Metabolic diseases tend to be more commonly associated with bilateral cataracts.

Genetic & Metabolic	Infections	Anomalies	Toxic
Down syndrome Hallermann-Streiff syndrome Lowe syndrome Galactosemia Cockayne syndrome Marfan syndrome Trisomy 13- 15 Hypoglycemia Alport syndrome Myotonic dystrophy Fabry disease Hypoparathyroidism Conradi syndrome Incontinentia pigmenti	Toxoplasmosis Other (Coxsackievirus, Syphilis, Varicella-Zoster, HIV, and Parvo B19) Rubella Cytomegalovirus Herpes Simplex (HSV-1, HSV-2)	Aniridia Anterior segment dysgenesis Persistent fetal vasculature (PFV) Posterior lenticonus	Corticosteroids Radiation

Genes involved in congenital cataract

Approximately 50% of all congenital cataract cases may have a genetic cause which is quite heterogeneous. It is known that different mutations in the same gene can cause similar cataract patterns, while the highly variable morphologies of cataracts within some families suggest that the same mutation in a single gene can lead to different phenotypes. More than 25 loci and genes on different chromosomes have been associated with congenital cataract. Mutations in distinct genes, which encode the main cytoplasmic proteins of human lens, have been associated with cataracts of various morphologies, including genes encoding crystallins (CRYA, CRYB, and CRYG), lens specific connexins (Cx43, Cx46, and Cx50), major intrinsic protein (MIP) or Aquaporin, cytoskeletal structural proteins, paired-like homeodomain transcription factor 3 (PITX3), avian musculoaponeurotic fibrosarcoma (MAF), and heat shock transcription factor 4 (HSF4).^[2]

Evaluation

All newborns should have screening eye examinations, including an evaluation of the red reflexes.

The red reflex test is best performed in a darkened room and involves shining a bright direct ophthalmoscope into both eyes simultaneously from a distance of 1– 2 ft. This test can be used for routine ocular screening by nurses, pediatricians, family practitioners, and optometrists.
Retinoscopy through the child's undilated pupil is helpful for assessing the potential visual significance of an axial lens opacity in a pre-verbal child. Any central opacity or surrounding cortical distortion greater than 3 mm can be assumed to be visually significant.
Laboratory Tests : In contrast to unilateral cataracts, bilateral congenital cataracts may be associated with many systemic and metabolic diseases. A basic laboratory evaluation for bilateral cataracts of unknown etiology in apparently healthy children includes:^[1]

- Urine test for reducing substance, galactose 1-phosphate uridyltransferase, galactokinase, amino acids

- Infectious diseases: TORCH and varicella titers, VDRL

- Serum calcium, phosphorus, glucose and ferritin

Surgery

In general, the younger the child, the greater the urgency in removing the cataract, because of the risk of amblyopia. For optimal visual development in newborns and young infants, a visually significant unilateral congenital cataract should be detected and removed before age 6 weeks, and visually significant bilateral congenital cataracts should be removed before age 10 weeks.^[1]

References

^ ^a ^b ^c Basic and clinical science course (2011–2012). Pediatric ophthalmology and Strabismus. American Academy of Ophthalmology. ISBN 978-1615251131.
^ Santana, A; Waiswo, M (Mar–Apr 2011). "The genetic and molecular basis of congenital cataract.". Arquivos brasileiros de oftalmologia 74 (2): 136–42. doi:10.1590/S0004-27492011000200016. PMID 21779674.

UpToDate Contents

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1. 小児における白内障 cataract in children
2. 白色瞳孔を有する小児に対するアプローチ approach to the child with leukocoria
3. 先天性風疹症候群：臨床的特徴および診断 congenital rubella syndrome clinical features and diagnosis
4. 眼の待機手術に対する麻酔 anesthesia for elective eye surgery
5. Congenital cytomegalovirus infection: Clinical features and diagnosis

English Journal

Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: A clinical report and review of literature.

Narumi Y1, Nishina S, Tokimitsu M, Aoki Y, Kosaki R, Wakui K, Azuma N, Murata T, Takada F, Fukushima Y, Kosho T.Author information 1Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan; Department of Medical Genetics, Kitasato University Graduate School of Medical Sciences, Sagamihara, Japan.AbstractCongenital cataracts are the most important cause of severe visual impairment in infants. Genetic factors contribute to the disease development and 29 genes are known to cause congenital cataracts. Identifying the genetic cause of congenital cataracts can be difficult because of genetic heterogeneity. V-maf avian musculoaponeurotic fibrosarcoma oncogene homolog (MAF) encodes a basic region/leucine zipper transcription factor that plays a key role as a regulator of embryonic lens fiber cell development. MAF mutations have been reported to cause juvenile-onset pulverulent cataract, microcornea, iris coloboma, and other anterior segment dysgenesis. We report on six patients in a family who have congenital cataracts were identified MAF mutation by whole exome sequencing (WES). The heterozygous MAF mutation Q303L detected in the present family occurs in a well conserved glutamine residue at the basic region of the DNA-binding domain. All affected members showed congenital cataracts. Three of the six members showed microcornea and one showed iris coloboma. Congenital cataracts with MAF mutation exhibited phenotypically variable cataracts within the family. Review of the patients with MAF mutations supports the notion that congenital cataracts caused by MAF mutations could be accompanied by microcornea and/or iris coloboma. WES is a useful tool for detecting disease-causing mutations in patients with genetically heterogeneous conditions. © 2014 Wiley Periodicals, Inc.
American journal of medical genetics. Part A.Am J Med Genet A.2014 May;164(5):1272-6. doi: 10.1002/ajmg.a.36433. Epub 2014 Mar 24.
Congenital cataracts are the most important cause of severe visual impairment in infants. Genetic factors contribute to the disease development and 29 genes are known to cause congenital cataracts. Identifying the genetic cause of congenital cataracts can be difficult because of genetic heterogeneit
PMID 24664492

Identification of a novel mutation of the gene for gap junction protein α3 (GJA3) in a Chinese family with congenital cataract.

Hu Y1, Gao L, Feng Y, Yang T, Huang S, Shao Z, Yuan H.Author information 1Department of Ophthalmology, the 2nd Affiliated Hospital of Harbin Medical University, 246 XuefuRoad, Harbin, 150086, Heilongjiang, China.AbstractCataract, defined as any opacity of the crystallin lens, can be divided into early onset (congenital or infantile) and age-related. It is the leading cause of visual disability in children, and mutations in many genes have currently been linked with this disorder. In the present study, we identified a genetic defect in a Chinese family with congenital cataract. Genomic DNA was extracted from the venous blood of the family and 100 normal controls. To screen for the disease-causing mutation, we sequenced eight candidate genes, and to predict the functional consequences of the mutation, a structural model of the protein was developed using the Protein Data Bank and PyMOL 1.1r1. We found a novel variant (c.163 A > G transition) in the gene for gap junction protein α3, or the connexin46 gene. This mutation resulted in the substitution of a highly conserved asparagine at codon 55 by aspartic acid (p.N55D). There were no nucleotide polymorphisms in the other candidate genes sequenced.
Molecular biology reports.Mol Biol Rep.2014 Apr 12. [Epub ahead of print]
Cataract, defined as any opacity of the crystallin lens, can be divided into early onset (congenital or infantile) and age-related. It is the leading cause of visual disability in children, and mutations in many genes have currently been linked with this disorder. In the present study, we identified
PMID 24728566

Iris Stromal Cyst Management With Absolute Alcohol-Induced Sclerosis in 16 Patients.

Shields CL, Arepalli S, Lally EB, Lally SE, Shields JA.Author information Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania.AbstractIMPORTANCE The management of symptomatic iris stromal cyst is challenging using methods of aspiration with or without adjunctive cryotherapy, intracameral cautery, or photocoagulation. Failed cases often require surgical resection, with risks for epithelial downgrowth, glaucoma, blindness, and loss of the eye. OBJECTIVE To study the safety and efficacy of the management of iris stromal cysts with aspiration and alcohol irrigation to induce cyst sclerosis. DESIGN, SETTING, AND PARTICIPANTS Interventional case series at a tertiary referral center among 16 patients. EXPOSURES Microscopically monitored transcorneal aspiration of cysts was performed with a 30-gauge needle on a 3-way T-extension into a 3-mL syringe, followed by immediate infusion of absolute alcohol from a separate 1-mL syringe through the other arm of the T-extension. Subsequent alcohol aspiration and repetition of the cycle was performed until the collapsed cyst wall appeared gray. MAIN OUTCOMES AND MEASURES Cyst involution, visual acuity, and treatment complications. RESULTS The iris stromal cysts were primary congenital (n = 6), primary acquired (n = 4), or secondary (n = 6). The cysts had a median basal diameter of 12 mm and a thickness of 4 mm, occupying 50% or more of the anterior or posterior chamber in each case. Treatment was administered following failure of simple aspiration (n = 16) and additional methods (n = 8). During a median follow-up period of 5 years, treatment was successful in 14 of 15 patients (1 patient was lost to follow-up). Cyst sclerosis with stabilization (n = 1) or involution (n = 13) was achieved following 1 (n = 10), 2 (n = 2), or 3 (n = 2) procedures. The single failure occurred in a 3-year-old child with cyst recurrence and severe photophobia requiring resection. Visual acuity remained stable or had improved in 14 patients and was reduced in 1 patient because of cataract. Complications included transient corneal edema (n = 4) and transient anterior chamber inflammation (n = 1), which resolved following topical corticosteroid therapy. No evidence was seen of treatment-related glaucoma, epithelial downgrowth, tissue necrosis, cataract, posterior segment toxic effects, or need for enucleation. CONCLUSIONS AND RELEVANCE Microscopically monitored aspiration and absolute alcohol-induced sclerosis of iris stromal cysts is safe and effective, with cyst involution obtained in 93% (14 of 15) of patients.
JAMA ophthalmology.JAMA Ophthalmol.2014 Apr 10. doi: 10.1001/jamaophthalmol.2014.160. [Epub ahead of print]
IMPORTANCE The management of symptomatic iris stromal cyst is challenging using methods of aspiration with or without adjunctive cryotherapy, intracameral cautery, or photocoagulation. Failed cases often require surgical resection, with risks for epithelial downgrowth, glaucoma, blindness, and loss
PMID 24723076

Japanese Journal

A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS

KONDO Yukiko,SAITSU Hirotomo,MIYAMOTO Toshinobu,NISHIYAMA Kiyomi,TSURUSAKI Yoshinori,DOI Hiroshi,MIYAKE Noriko,RYOO Na-Kyung,KIM Jeong Hun,YU Young Suk,MATSUMOTO Naomichi
Journal of human genetics 57(3), 197-201, 2012-03-01
NAID 10030712110

Prevalence of Eye Diseases and Causes of Visual Impairment in School-Aged Children in Western China

PI Lian-Hong,CHEN Lin,LIU Qin,KE Ning,FANG Jing,ZHANG Shu,XIAO Jun,YE Wei-Jiang,XIONG Yan,SHI Hui,ZHOU Xi-Yuan,YIN Zheng-Qin
Journal of epidemiology 22(1), 37-44, 2012-01-01
… 9/3079), cataract (0.23%; … 3/237), congenital cataract (0.42%; …
NAID 10030213040

先天白内障の外科的治療

永本敏之
眼科 53(5), 685-690, 2011-05
NAID 40018847504

Related Pictures

★リンクテーブル★

リンク元	「先天性白内障」
関連記事	「congenita」「congenital」

「先天性白内障」

Congenital cataract
	Bilateral cataracts in an infant due to congenital rubella syndrome.
Classification and external resources
Specialty	medical genetics
ICD-10	Q12.0
ICD-9-CM	743.3
MedlinePlus	001615
	[edit on Wikidata]