CRB1-associated retinal dystrophy presenting as self-resolving opsoclonus and posterior uveitis.

ABSTRACT:

Purpose

To describe the unusual case of inflammatory CRB1-associated retinal dystrophy that initially presented with self-resolving opsoclonus.

Observations

We report the case of a now 2-year-old female who developed opsoclonus without myoclonus at the age of 4 months. An extensive workup for neuroblastoma and other systemic diseases was unremarkable, and all unusual eye movements self-resolved at age 10 months. Twenty-one months after initial presentation, she began having reduced visual behaviors, and comprehensive ophthalmic exam at that time revealed recurrent saccadic intrusions as well as severe, chronic retinal inflammation and dystrophic changes. An extensive infectious and inflammatory workup was negative. Genetic sequencing revealed two variants in CRB1: a heterozy

SUBMITTER: Li AS 

PROVIDER: S-EPMC8881377 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature