The first case of Oguchi disease, type 2 in a Polish patient with confirmed GRK1 gene mutation.

UNLABELLED: Oguchi disease type 2 is a rare autosomal recessive form of congenital stationary night blindness. A typical feature of this disorder is a golden-brown discoloration of the fundus called Mizuo-Nakamura phenomenon, which disappears after prolonged dark adaptation and reappears shortly after the onset of light.

MATERIAL AND

METHODS

A 13-year-old boy exhibiting the clinical features of congenital stationary night blindness, was examined. Ophthalmic examination including slit-lamp biomicroscopy, perimetry and funduscopy was performed. Additionally, the full-field electroretinography and molecular testing for congenital stationary night blindness using the Single Nucleotide Polymorphism microarray technique were performed.

RESULTS

The ophthalmic examination showed normal visual acuity, normal anterior segment of both eyes and full visual fields. The eye fundus examination showed a typical golden-brownish discoloration of the peripheral retina (disappearing after long dark adaptation) with no pigment deposits. Full-field electroretinography showed reduced amplitudes of both waves under scotopic conditions, while under photopic conditions both shape and parameters of the record were within the normal limits. The Single Nucleotide Polymorphism microarray revealed a homozygous deletion: c.1607161 OdelCGGA in GRK1 gene. This frameshift mutation introduces a stop codon (p.Asp537Valfs*542) and results in deletion of terminal 22 amino acid residues of retinal kinase protein.

CONCLUSIONS

This is the first molecular evidence for GRK1 gene mutation in a Polish patient with Oguchi disease type 2. The identification of the c.1607_1610delCGGA mutation in a patient with Oguchi disease confirms the pathogenicity of this variant.