Ophthalmic manifestations of ROSAH syndrome - A case report

Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache (ROSAH) syndrome is an autosomal dominant disorder, and genome-wide sequencing has identified the ALPK1 gene as the cause of this rare systemic ocular disorder. [1] We report a unique case of ROSAH syndrome with genetic positivity of both the ALPK1 and ABCA4 genes, exhibiting phenotypical ocular features of retinal degeneration, optic disc involvement, ocular inflammation, and headache.