Description of a new phenotype of heavy anterior segment dysgenesis of the eye
Researchers of the FSBI RCMG Genetic Epidemiology Laboratory together with colleagues from S.N. Fedorov Eye Microsurgery Federal State Institution and from Spanish Laboratory described a phenotype of two unrelated patients with a new form of heavy anterior segment dysgenesis of the eye, characterized by the presence of microphthalm, microcornea, congenital aphakia and iris hypoplasia. The phenotype was associated with the loss of codon termination of the CRYAA gene transmission.
Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis.
Marakhonov AV, Voskresenskaya AA, Ballesta MJ, Konovalov FA, Vasilyeva TA, Blanco-Kelly F, Pozdeyeva NA, Kadyshev VV, López-González V, Guillen E, Ayuso C, Zinchenko RA, Corton M.
Orphanet J Rare Dis 15, 207 (2020).
Orphanet Journal of Rare Diseases (WoS Q2, IF=4.029)