I am a
Home I AM A Search Login

Papers of the Week


2022 Nov 01


Ophthalmology

Ophthalmic manifestations of ROSAH Syndrome, an inherited NF-κB mediated autoinflammatory disease with retinal dystrophy.

Authors

Huryn LA, Kozycki C, Serpen JY, Zein WM, Ullah E, Iannaccone A, Williams L, Sobrin L, Brooks BP, Sen NH, Hufnagel RB, Kastner DL, Kodati S
Ophthalmology. 2022 Nov 01.
PMID: 36332842.

Abstract

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.