Congenital cataract

Classification according to ICD-10
Q12.0	Cataracta congenita
ICD-10 online (WHO version 2019)

Bilateral cataract in an infant with rubella embryo fetopathy

The congenital cataract is a congenital malformation with a lens opacity ( cataract ) that already exists at birth . It can occur on one or both sides and is considered to be easily treatable. If left untreated, it usually leads to an additional functional visual impairment, a stimulus deprivation amblyopia .

Synonyms are: congenital cataract; Latin Cataracta congenita

The first description probably comes from the British ophthalmologist NB Harman in 1909.

distribution

The frequency is stated to be around 1–6 per 10,000 people. Congenital cataracts are the cause of nearly 10% of all blindness in children worldwide. Metabolic or systemic diseases are the basis in more than 60% .

Common causes

Common possible causes are:

• Chondrodysplasia punctata due to X-linked deletion
• Chondrodyplasia punctata, rhizomelic type
• Conradi-Hünermann syndrome (X-linked dominant hereditary chondrodysplasia punctata)
• Ectodermal dysplasia
• Familial congenital cataract
• Galactosemia I & II
• Hallermann Streiff Syndrome
• Lowe's syndrome
• Marinescu-Sjogren's syndrome type I.
• Pierre Robin sequence
• Rubella embryo fetopathy
• Trisomy 13
• Trisomy 21

In the context of syndromes

A cataract can be an essential feature of syndromes , some of which are very rare :

• Acromicric dysplasia (ocular arthro-skeletal syndrome; Moore-Federman syndrome)
• Atrophia gyrata of the choroid and retina (ornithinaemia with gyratrophy)
• Basel-Vanagaite-Smirin-Yosef syndrome , synonyms: congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome; Congenital cataract-microcephaly-nevus flammeus simplex-severe mental retardation syndrome
• Bassoe syndrome , synonym: muscular dystrophy, congenital - infantile cataract - hyogonadism
• Cataracta dermatogenes Androgsky (Cataracta syndermatotica)
• CCFDN syndrome , synonym: congenital cataract facial dysmorphism neuropathy syndrome
• CCMCO syndrome
• Cerebrotendinous xanthomatosis
• COFS syndrome
• Crome syndrome (cataract nephropathy encephalopathy syndrome)
• de Barsy syndrome
• EDICT syndrome , synonym: endothelial dystrophy-Irish hypoplasia-congenital cataract-stroma-thinning syndrome
• Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
• Flynn-Aird syndrome
• Goldmann-Favre Syndrome
• Hyperferritinemia Cataract Syndrome
• Hypomyelination - Congenital Cataract
• Cataract-congenital cardiopathy-neural tube defect syndrome
• Cataract Microcornea Syndrome
• Congenital cataract-progressive hypotension-hearing loss-developmental delay syndrome
• Congenital cataract-severe neonatal hepatopathy-general developmental delay syndrome
• Congenital cataract hearing loss developmental delay syndrome
• Leber Congenital Amaurosis (Alström-Olson Syndrome)
• Marashi-Gorlin syndrome , synonym: radiculomegaly of the canines - congenital cataract
• Marshall Syndrome
• Meckel-Gruber syndrome
• Mevalonate kinase deficiency
• Microcephaly-congenital cataract-psoriasiform dermatosis syndrome , synonyms: SMO deficiency; SC4MOL deficiency; Microcephaly-congenital cataract-ichthyosiform dermatitis syndrome
• Mucoepithelial hereditary dysplasia
• Nance-Horan Syndrome
• Nathalie Syndrome
• Nephronophthisis
• Norrie Syndrome
• Osteoporosis Pseudoglioma Syndrome
• Pachyonychia congenita
• Peters anomaly
• Porencephaly-microcephaly-bilateral congenital cataract syndrome
• Rothmund-Thomson Syndrome
• Rubella embryopathy
• Sengers syndrome , synonym: congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
• Sjogren's syndrome
• Tay syndrome
• Trichothiodystrophy
• WAGR syndrome
• Wagner disease (hyaloid retinal dysplasia)
• Walker-Warburg syndrome (Hard + E syndrome)
• Werner syndrome

Classification

Depending on the type and location of the pathological changes, the following classification is possible: (see also cataract (medicine) # classification )

• Congenital anterior polar cataract , synonym: early-onset anterior polar cataract
• Congenital cataract type Volkmann , synonym: early-onset partial cataract * Congenital lamellar cataract , synonym: early-onset lamellar cataract
• Congenital nuclear cataract , synonym: early-onset nuclear cataract
• Congenital posterior polar cataract , synonym: early-onset posterior polar cataract
• Congenital posterior subcapsular cataract , synonym: early-onset posterior subcapsular cataract
• Congenital sutural cataract , synonym: early-onset sutural cataract
• Congenital zonal cataract , synonym: early-onset zonular cataract
• Nonsyndromic congenital cataract
• Total congenital cataract , synonym: early-onset total cataract

It is easier to differentiate between one-sided and two-sided:

• unilateral cataracts usually occur sporadically (as an isolated incident). There is an association with other ocular malformations such as lenticonus posterior, persistent hyperplastic primary vitreus , anterior segment dysgenesis , tumors of the posterior pole; Trauma or intrauterine infection such as rubella
• bilateral cataracts are often inherited and associated with other diseases. Frequently, hypoglycemia , trisomy , myotonic dystrophy type 1 (Curschmann-Steinert), (intrauterine) infections such as herpes simplex , rubella, toxoplasmosis , cytomegaly ( STORCH ) or premature birth are the cause.

Play media file

Transverse sonography of the fetal head with eye movements and unilateral lens opacity , 20th week of pregnancy

Clinical Appearances and Treatment Options

An ophthalmoscopic examination with a simplified Brückner test to identify a leukocoria has been part of the U2 child screening examination since 2017 .

Apart from age, clinical symptoms, diagnosis and treatment options do not differ significantly from the measures described in the main article, cataracts . Due to the threat of amblyopia, the time for surgical removal of the cloudy lens should be from 6 to 8 weeks of age, depending on the findings. Whether further treatment with soft contact lenses or the implantation of an artificial intraocular lens should be carried out also depends on the findings.

literature

• C. Kuhli-Hattenbach, M. Fronius, T. Kohnen: Bilateral congenital cataracts: clinical and functional results depending on the time of operation. In: The ophthalmologist. 114, 2017, p. 252, doi: 10.1007 / s00347-016-0326-5 .
• RD Barley: Congenital Cataract: Not using an artificial lens only postpones complications. In: Deutsches Ärzteblatt , Vol. 109, No. 8, February 24, 2012

Individual evidence

1. ↑ ^{a b c} emedicine Congenital Cataract
2. ↑ ^{a b} Medlineplus
3. ↑ Guideline 26 a Amblyopia of the Professional Association of Ophthalmologists in Germany and the German Ophthalmological Society
4. ↑ Christopher M. Fecarotta and Wendy W. Huang: Congenital Cataract . Msd Manual - Medical Edition, October 2018
5. ^ NB Harman: Congenital cataract, a pedigree of five generations. In: Transactions of the Ophthalmological Societies of the United Kingdom , Vol. 29, pp. 101-108, 1909.
6. ↑ Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
7. ↑ Orphanet Search
8. ^ Muscular dystrophy, congenital - infantile cataract - hyogonadism. In: Orphanet (Rare Disease Database).
9. ↑ Congenital cataract facial dysmorphic neuropathy syndrome. In: Orphanet (Rare Disease Database).
10. ↑ Cataract-Nephropathy-Encephalopathy Syndrome. In: Orphanet (Rare Disease Database).
11. ↑ EDICT syndrome. In: Orphanet (Rare Disease Database).
12. ↑ Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome. In: Orphanet (Rare Disease Database).
13. ^ Goldmann-Favre syndrome. In: Orphanet (Rare Disease Database).
14. ↑ Hypomyelination - Congenital Cataract. In: Orphanet (Rare Disease Database).
15. ↑ Cataract-congenital cardiopathy-neural tube defect syndrome. In: Orphanet (Rare Disease Database).
16. ↑ Cataract Microcornea Syndrome. In: Orphanet (Rare Disease Database).
17. ↑ Congenital cataract-progressive hypotension-hearing loss-developmental delay syndrome. In: Orphanet (Rare Disease Database).
18. ↑ Congenital cataract-severe neonatal hepatopathy-general developmental delay syndrome. In: Orphanet (Rare Disease Database).
19. ↑ Congenital cataract deafness developmental delay syndrome. In: Orphanet (Rare Disease Database).
20. ^ Radiculomegaly of the canines - congenital cataract. In: Orphanet (Rare Disease Database).
21. ↑ Mevalonate kinase deficiency. In: Orphanet (Rare Disease Database).
22. ↑ Microcephaly-congenital cataract-psoriasiform dermatosis syndrome. In: Orphanet (Rare Disease Database).
23. ^ Nance-Horan syndrome. In: Orphanet (Rare Disease Database).
24. ↑ Osteoporosis Pseudoglioma Syndrome. In: Orphanet (Rare Disease Database).
25. ^ Peters anomaly. In: Orphanet (Rare Disease Database).
26. ↑ Porencephaly-microcephaly-bilateral congenital cataract syndrome. In: Orphanet (Rare Disease Database).
27. ↑ Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome. In: Orphanet (Rare Disease Database).
28. ^ Wagner disease. In: Orphanet (Rare Disease Database).
29. ↑ Cataract, anterior polar, early onset. In: Orphanet (Rare Disease Database).
30. ↑ Cataract, partial, early onset. In: Orphanet (Rare Disease Database).
31. ↑ Cataract, lamellar, early onset. In: Orphanet (Rare Disease Database).
32. ↑ cataract, nuclear, early-onset. In: Orphanet (Rare Disease Database).
33. ↑ Cataract, posterior polar, early onset. In: Orphanet (Rare Disease Database).
34. ↑ Early onset posterior subcapsular cataract. In: Orphanet (Rare Disease Database).
35. ↑ Cataract, sutural, early onset. In: Orphanet (Rare Disease Database).
36. ↑ Cataract, zonal, early-onset. In: Orphanet (Rare Disease Database).
37. ↑ Cataract, nonsyndromic, congenital. In: Orphanet (Rare Disease Database).
38. ↑ Cataract, total, early onset. In: Orphanet (Rare Disease Database).
39. ^ L Degener: Child provision: That has changed. in: Der Hausarzt.digital , March 2017, updated March 18, 2019, [1]

Web links

• Rare Diseases

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !