IllnessCataract with other eye anomalies, differential diagnosis

NGS +

[Sanger]

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

• 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)