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Ophthalmic Genet. 2018 Aug;39(4):544-549. doi: 10.1080/13816810.2018.1484929.

Two-year progression analysis of RPE65 autosomal dominant retinitis pigmentosa.

Jauregui R1,2,3, Park KS1,2, Tsang SH1,2,4.

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a Department of Ophthalmology , Columbia University , New York , NY , USA.
b Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory , New York , NY , USA.
c Weill Cornell Medical College , New York , NY , USA.
d Department of Pathology & Cell Biology, Stem Cell Initiative (CSCI), Institute of Human Nutrition, College of Physicians and Surgeons , Columbia University , New York , NY , USA.



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.


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.


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.


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.


Autosomal dominant; RPE65; disease progression; retinitis pigmentosa

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