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Portal Orphanet Has Registered a New Inherited Eye Disease - Congenital Aphakia, Iris Hypoplasia, Microphthalmia, and Microcornea Syndrome

The portal Orphanet has registered a new inherited eye disease - congenital aphakia, iris hypoplasia, microphthalmia, and microcornea syndrome. The disease was described by the employees of the genetic epidemiology laboratory of the Research Centre for Medical Genetics, Andrey Marakhonov, Anna Voskresenskaya, Tatyana Vasilyeva and Rena Zinchenko. The ORPHA code for the disease is 617449.

The disease is caused by a specific type of pathogenic variant of the nucleotide sequence of the gene CRYAA, which encodes the protein αA crystallin, the primary lens protein, the loss of the translation terminating codon and the C-terminal elongation of the aminoacid protein chain. Other types of changes in the CRYAA gene are associated with much less severe eye diseases - juvenile cataract, less often cataract-microcornea syndrome.

The registration of a new disease became possible after the independent identification of two cases of this disease: one in Russia by the study’s authors and the other one in Spain - with an almost identical clinical picture and a similar molecular cause. The results were published in the Orphanet Journal of Rare Diseases.

Marakhonov, A.V., Voskresenskaya, A.A., Ballesta, M.J. et al. Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis. Orphanet J Rare Dis 15, 207 (2020).