Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB-Mediated Autoinflammatory Disease with Retinal Dystrophy.

ABSTRACT:

Purpose

We aimed to characterize the ocular phenotype of patients with ROSAH (retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache) syndrome and their response to therapy.

Design

Single-center observational case study.

Participants

Eleven patients with a diagnosis of ROSAH syndrome and mutation in ALPK1 were included.

Methods

Patients with molecularly confirmed ROSAH syndrome underwent ophthalmic evaluation, including visual acuity testing, slit-lamp and dilated examinations, color fundus and autofluorescence imaging, fluorescein angiography, OCT, and electrophysiologic testing.

Main outcome measures

Visual acuity, electrophysiology, fluorescein angiography, and OCT findings.

Results

Eleven individuals (6 female and 5 male

SUBMITTER: Huryn LA 

PROVIDER: S-EPMC10038920 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature