Two Cases of ROSAH-Like Syndrome Restricted to the Ophthalmologic Presentation

Abstract

Purpose: To report the clinical presentation and follow-up, including the optical coherence tomography, angiography and electrophysiology of two individuals from the same family presenting with an isolated retinal dystrophy and optic nerve edema who were diagnosed with ROSAH-like syndrome.

Method: Observational case report of a 55-year-old woman and her 36-year-old son with a genetic analysis of ROSAH, after a long-term follow-up.

Results: Both the mother and her son displayed severe optic nerve infiltration and retinal pigment atrophy with intraocular inflammation, which were not improved by immunosuppressive treatment. Systemic investigations were not relevant of a syndromic presentation. Whole exome sequencing revealed the same ALPK1 missense pathogenic variant c.710C>T; p.(Thr237Met) responsible for ROSAH syndrome.

Conclusion: ALPK1 variant responsible for ROSAH syndrome may cause severe retinal dystrophy and an uveitis-like presentation resistant to conventional immunosuppressive drugs, without the systemic symptoms common to the ROSAH syndrome.

Keywords: ALPK1; ROSAH; optic nerve edema; retinal dystrophy; uveitis.