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Quantitative Fundus Autofluorescence for the Evaluation of Retinal Diseases

Quantitative Fundus Autofluorescence for the Evaluation of Retinal Diseases

Published on: March 11, 2016

Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy.

Ana Fakin¹, Maja Šuštar¹, Jelka Brecelj¹

¹Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.

|November 27, 2019

Summary

A rare double hyperautofluorescent ring pattern in USH2A disease indicates a milder subtype. This subtype is linked to better vision, cone function, and hearing compared to typical single rings.

Area of Science:

Ophthalmology and Genetics
Retinal Degeneration and Auditory Impairment

Background:

Usher syndrome type 2A (USH2A) mutations are the leading cause of retinitis pigmentosa (RP), often accompanied by hearing loss.

Keywords:

USH2A cone-rod dystrophy double hyperautofluorescent rings electrophysiology fundus autofluorescence retinitis pigmentosa usher syndrome

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Typical FAF imaging in USH2A-RP shows a single hyperautofluorescent ring; electrophysiology usually reveals rod-cone dysfunction.