Case Report: ROSAH syndrome presents diagnostic and therapeutic challenges

Keyphrases

• Therapeutic Challenges 100%
• Diagnostic Challenge 100%
• ROSAH Syndrome 100%
• Retinal Degeneration 80%
• Macular Edema 80%
• Immune Suppression 40%
• α-kinase 40%
• Optic Disc Edema 40%
• Optic Nerve Edema 40%
• Gene Sequencing 20%
• Glaucoma 20%
• Whole Exome Sequencing 20%
• Clinical Features 20%
• Heterozygous mutation 20%
• Proband 20%
• Headache 20%
• Uveitis 20%
• Genome Sequencing 20%
• Treatment Outcome 20%
• First-degree Relatives 20%
• Young Males 20%
• Vitreous Inflammation 20%
• Ocular Inflammation 20%
• Retrospective Chart Review 20%
• Cone Dysfunction 20%
• Panuveitis 20%
• Whole Exome 20%
• Retinal Rods 20%
• Splenomegaly 20%
• Autosomal Dominant Disorder 20%
• Tocilizumab 20%
• Rod Dysfunction 20%
• Heterozygous Missense mutation 20%
• Ophthalmic Manifestations 20%
• Retinal Dystrophy 20%
• Retinal Cones 20%
• Local Steroid 20%
• Intravitreal Dexamethasone 20%
• Anhidrosis 20%

Medicine and Dentistry

• Macular Edema 100%
• Retina Degeneration 100%
• Immunosuppressive Treatment 50%
• Optic Nerve 50%
• Edema 50%
• Uveitis 50%
• Phosphotransferase 50%
• Papilledema 50%
• Gene Sequence 25%
• Glaucoma 25%
• Vitreous 25%
• Clinical Feature 25%
• Headache 25%
• Exome 25%
• Missense Mutation 25%
• Agents Acting on the Eye 25%
• Exome Sequencing 25%
• Dexamethasone 25%
• Autosomal Dominant Disorder 25%
• Splenomegaly 25%
• Tocilizumab 25%
• Anhidrosis 25%
• Eye Inflammation 25%
• Retina Dystrophy 25%
• Treatment Outcome 25%
• Degree Relative 25%

Neuroscience

• Retinal Degeneration 100%
• Kinase 50%
• Optic Nerve 50%
• Headache 25%
• Exome Sequencing 25%
• Gene Sequence 25%
• Glaucoma 25%
• Uveitis 25%
• Dexamethasone 25%
• Missense Mutation 25%
• Autosomal Dominant Disorder 25%
• Vitreous 25%
• Panuveitis 25%
• Retinal Dystrophy 25%
• Tocilizumab 25%