Two-year progression analysis of RPE65 autosomal dominant retinitis pigmentosa. (4th July 2018)

• Record Type: Journal Article
• Authors: Jauregui, Ruben; Park, Karen Sophia; Tsang, Stephen H.
• Is Part Of: Ophthalmic genetics. Volume 39:Number 4(2018)
• Page Start: 544
• Page End: 549
• Publication Date: 2018-07-04
• Subjects: Autosomal dominant -- disease progression -- retinitis pigmentosa -- RPE65; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.1080/13816810.2018.1484929
• Languages: English
• ISSNs: 1381-6810

Abstract

ABSTRACT: Background : The RPE65 gene was recently described to cause autosomal dominant retinitis pigmentosa (adRP), presenting with a phenotype resembling choroideremia. This study presents the 2-year progression of RPE65 adRP in a patient. Methods : This is an observational case report of one patient. The patient received a full ophthalmic examination during both visits, including diagnostic imaging such as spectral domain optical coherence tomography (SD-OCT), OCT-angiography (OCT-A), short-wave fundus autofluorescence (FAF), and fundus photography. Genetic characterization was obtained by DNA sequencing from peripheral blood lymphocytes obtained during the first visit. Results : RPE65 adRP phenocopied choroideremia at the initial fundoscopy. Upon the patient's return to our clinic 2 years later, DNA sequencing revealed a heterozygous mutation in the RPE65 gene. Diagnostic imaging by SD-OCT and FAF suggested disease progression. In conjunction with clinical examination and imaging, the diagnosis was revised to adRP caused by RPE65 . Conclusion : adRP due to a mutation in the gene encoding RPE65 phenocopied choroideremia. Based on our analysis of the 2-year disease progression in this patient, RPE65 adRP is mild and has a slow rate of disease progression.