Differential diagnostics and molecular-genetic analysis of X-linked retinitis pigmentosa type 2 (RP2
X-linked retinal degeneration (X-linked Retinitis Pigmentosa or XLRP) is a highly severe form of congenital ocular diseases, which is characterized by high level of clinical and genetical heterogeneity. The differential diagnostics and molecular-genetic analysis of XLRP were performed in a compromised Tatar family. Results of our study showed the segregation of the disease with X-linked retinitis pigmentosa type II (RP2) locus on chromosome Xp11.3 in the family. Sequencing analysis of RP2 gene revealed a novel mutation c.10-12delTTC in exon 1 of RP2. The mutation c.10_12delTTC was identified in all affected men in hemizygous and in all women-carriers in heterozygous state. The given results confirm the diagnosis «X-linked retinitis pigmentosa type 2» in the family.