©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessCataract with other eye anomalies, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Cataract plus other eye malformations (without additional systemic manifestations) comprising 8 or 25 curated genes according to the clinical signs

ID
KP0017
Number of genes
20 Accredited laboratory test
Examined sequence length
8,5 kb (Core-/Core-canditate-Genes)
35,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
B3GLCT1497AR
CRYAA522AD, AR
CRYBA4591AD
FOXE3960AD, AR
GJA81302AD
MAF1212AD
PAX61269AD
VSX21086AR
BCOR5166XLD
COL18A14560AR
CRYBB1759AD, AR
CRYBB2618AD
CRYGC525AD
CRYGD525AD
DNMBP6032AR
LCAT1323AR
OPA3540AD, AR
P3H21584AR
PITX3909n.k.
PXDN4440AR

Informations about the disease

Clinical Comment

Inherited congenital cataract may occur in isolation (>2/3), together with other (complex) ocular anomalies (15%) or as part of a syndrome (15%). Determining whether congenital cataract occurs in isolation or linked to other ocular pathology is essential for predicting potential vision and for early diagnosis and treatment of these conditions. The other ocular diseases include microcornea, microphthalmia, glaucoma, anterior segment dysgenesis, coloboma, sclerocornea, corneal opacity, nystagmus and myopia etc. More than 20-25 genes are involved in the molecular etiology of congenital cataract as accompanied by other ocular features, namely the genes encoding crystallins, cytoskeletal structure proteins and membrane proteins. The inheritance patterns are often autosomal dominant, less commonly autosomal recessive and in exceptional cases X-linked. Since the DNA diagnostic yield has not yet been clarified in this field, a negative molecular genetic result does not exclude the clinical diagnosis.

Reference: DOI: 10.1177/263300402093806

 

Synonyms
  • Cataract pulverulent or cerulean with/-out microcornea
  • Peter's anomaly, microphthalmia, included
  • Peters anomaly, included
  • Alias: Cataract combined with other eye anomalies
  • Alias: Cataract-microcornea syndrome, included
  • Allelic: 3-methylglutaconic aciduria, type III (OPA3)
  • Allelic: Aniridia (PAX6)
  • Allelic: Aortic aneurysm, familial thoracic 11, susceptibility to (FOXE3)
  • Allelic: Ayme-Gripp syndrome (MAF)
  • Allelic: Cataract 11, multiple types (PTX3)
  • Allelic: Cataract 11, syndromic, AR (PTX3)
  • Allelic: Cataract with late-onset corneal dystrophy (PAX6)
  • Allelic: Coloboma of optic nerve (PAX6)
  • Allelic: Coloboma, ocular (PAX6)
  • Allelic: Foveal hypoplasia 1 (PAX6)
  • Allelic: Keratitis (PAX6)
  • Allelic: Microphthalmia, isolated 2 (VSX2)
  • Allelic: Morning glory disc anomaly (PAX6)
  • Allelic: Norum disease (LCAT)
  • Allelic: Optic nerve hypoplasia (PAX6)
  • Anterior segment dysgenesis 1, multiple subtypes (PTX3)
  • Anterior segment dysgenesis 2, multiple subtypes (FOXE3)
  • Anterior segment dysgenesis 5, multiple subtypes (PAX6)
  • Anterior segment dysgenesis 7, with sclerocornea (PXDN)
  • Cataract 1, multiple types (GJA8)
  • Cataract 17, multiple types (CRYBB1)
  • Cataract 2, multiple types (CRYGC)
  • Cataract 21, multiple types (MAF)
  • Cataract 23 (CRYBA4)
  • Cataract 3, multiple types (CRYBB2)
  • Cataract 34, multiple types (FOXE3)
  • Cataract 4, multiple types (CRYGD)
  • Cataract 48 (DNMBP)
  • Cataract 9, multiple types (CRYAA)
  • Fish-eye disease (LCAT)
  • Knobloch syndrome, type 1 (COL18A1)
  • Microphthalmia with coloboma 3 (VSX2)
  • Microphthalmia, syndromic 2 (BCOR)
  • Myopia, high, with cataract and vitreoretinal degeneration (P3H2)
  • Optic atrophy 3 with cataract (OPA3)
  • Peters-plus syndrome (B3GLCT)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLD
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
H26.-

Bioinformatics and clinical interpretation

No text defined