Alpk1 missense pathogenic variant in five families leads to rosah syndrome, an ocular multisystem autosomal dominant disorder

HIGHLIGHTS

• who: Lloyd B. Williams from the ARTICLE unique constellation of ocular and systemic features that presented to the ophthalmology and hematology clinics of the University of UtahThe features common to all three affected individuals in this family included a severe retinal dystrophy of the cones and rods, optic nerve edema, mild pancytopenia, and idiopathic massive splenomegaly. Two of the affected individuals had anhidrosis and migraine headaches, with one also experiencing episodic urticaria. Despite extensive literature search and discussion with colleagues, no other similarly affected individuals were identified at that time. Here, we describe the clinical features of . . .
  

   

  

  If you want to have access to all the content you need to log in!

  Thanks :)

  Username or Email

  Password

  Remember me

  Lost your password?

  If you don't have an account, you can create one here.