Background/aims Microphthalmia-anophthalmia-coloboma (MAC) are congenital eye
malformations causing a significant percentage of visually impairments in children. Although …

Abstract Background Postzygotic KRAS, HRAS, NRAS, and FGFR1 mutations result in a
group of mosaic RASopathies characterized by related developmental anomalies in eye …

In this work, we aimed to provide the genetic diagnosis of a large cohort of patients affected
with inherited retinal dystrophies (IRDs) from Mexico. Our data add valuable information to …

The association of retinitis pigmentosa (RP) and microphthalmia has been reported in a
number of familial and isolated cases. Here, the results of genetic analysis in a familial case …

Corneal dystrophies (CDS) are inherited disorders characterized by an altered corneal
transparency and refractive index which may be caused by a progressive accumulation of …

Severe congenital eye malformations, particularly microphthalmia and anophthalmia, are
one of the main causes of visual handicap worldwide. They can arise from multifactorial …

Usher syndrome, the most prevalent cause of combined hereditary vision and hearing
impairment, is clinically and genetically heterogeneous. Moreover, several conditions with …

Purpose Paired box gene 6 (PAX6) heterozygous mutations are well known to cause
congenital non-syndromic aniridia. These mutations produce primarily protein truncations …

Background Anterior segment dysgenesis (ASD) disorders are a group of clinically and
genetically heterogeneous phenotypes in which frequently cornea, iris, and lens are …

Purpose: To present the results of molecular analysis of the NDP gene in Mexican families
with Norrie disease (ND) and X‐linked familial exudative vitreoretinopathy (XL‐FEVR) …