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M.S. Burstedt, I. Golovleva, O. Sandgren; Clinical Phenotype of Individuals Heterozygous for the Bothnia Dystrophy Gene . Invest. Ophthalmol. Vis. Sci. 2003;44(13):527.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: To describe the phenotype in patients heterozygous for the R234W mutation in the RLBP1 gene affected with Bothnia dystrophy (BD), a variant of recessive retinitis pigmentosa (RP). Methods: Ten patients from Northern Sweden diagnosed with RP, heterozygous for the R234W mutation in the RLBP1 gene, was included in the study. Clinical, psychophysical and electrophysiological ophthalmologic examinations were made. Results: All patients presented a phenotype similar to BD, a recessive form of RP. The phenotype showed nightblindness since early childhood followed by visual acuity decrease leading to legal blindness in adulthood. Central fundus findings similar to punctate albescens changes in young adults and circular retinal atrophies were seen in more advanced cases of the disease. Adaptometry and electrophysiologic testing showed initial loss of rod function followed by progressive cone affection.findings similar to BD. Conclusions: Our findings indicate a similar or identical phenotype of this group of patients, heterozygous for the R234W mutation in the RLBP1 gene, compared to individuals homozygous for the R234W mutation in the RLBP1 gene. Other mutations of the coding sequence in the RLBP1 gene have been excluded in our study, indicating the possibility of involvement of another gene in BD patients.
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