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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.

Author information

1
a Department of Ophthalmology , Columbia University , New York , NY , USA.
2
b Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory , New York , NY , USA.
3
c Weill Cornell Medical College , New York , NY , USA.
4
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.

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.

KEYWORDS:

Autosomal dominant; RPE65; disease progression; retinitis pigmentosa

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