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Avigail Beryozkin, Samer Khateb, Carlos Idrobo, Mor Hanany, Alexey Obolensky, Dror Sharon, Eyal Banin; Clinical Characteristics of a Large Cohort of Patients with Retinitis Pigmentosa due to Biallelic FAM161A Mutations. Invest. Ophthalmol. Vis. Sci. 2017;58(8):3219.
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© ARVO (1962-2015); The Authors (2016-present)
FAM161A mutations are currently the most common cause of autosomal recessive RP in the Israeli population, while they seem to be rare elsewhere. In the present study we explored the clinical phenotype of patients harboring FAM161A mutations in order to provide information on the spectrum of disease associated with this gene.
Data was collected retrospectively from the medical records of 85 patients harboring biallelic FAM161A mutation/s, the majority being two founder mutations common in the Jewish population. Clinical information included best-corrected visual acuity (BCVA), refractive error, clinical ocular exam by slit lamp biomicroscopy, full-field electroretinography (FFERG), Goldmann visual fields, ocular coherence tomography (OCT), color, infrared and fundus autofluorescence (FAF) imaging.
The most frequent initial symptom was night blindness. BCVA was largely preserved in most patients through the first three decades of life, and often severely deteriorated by the 6th decade. Ophthalmoscopy revealed classic signs of RP: waxy pallor of the optic discs, attenuated retinal vessels, and bone spicule-like pigmentation accompanied by retinal atrophy in the mid periphery. Interestingly, pigmentary changes were relatively late to appear, and in older patients (ages 50+), nummular pigmentation was also observed. ERG recordings revealed non-detectable rod responses at time of first testing (mean age 36) in 40 of 43 patients, while cone flicker was below detection in 33. FAF images showed a hyper-autofluorescent ring around the fovea in all patients already at young ages (third decade of life). Macular OCT showed thinning of the ONL around the fovea, with relative preservation of the fovea. In 42 of 46 patients, an epiretinal membrane (ERM) was observed, but frank cystoid macular edema (CME) was rare, appearing in only 4 patients.
Mutations in FAM161A cause ARRP with symptoms usually manifesting in the 3rd or 4th decade of life. The clinical phenotype falls within the spectrum of RP caused by other genes. Interestingly, pigmentary changes seem to appear relatively late in the course of disease, ERMs are relatively common, but CME is quite rare. The data collected can assist in evaluation of FAM161A patients, provides information on the course of disease and may be relevant for future application of novel therapies.
This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.
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