This abstract is assigned to sessions
| Presentation preference | Poster presentation |
| Title | A case report of ROSAH Syndrome, a juvenile onset ocular multisystem autosomal dominant disorder |
| Purpose | ROSAH syndrome was firstly reported in 2019 as an autosomal dominant systemic disorder due to a mutation in ALPK1 gene. It is characterized by retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache. Patients have ocular inflammation without resolving with steroid or other forms of immunosuppression and visual dysfunction is severe with loss of cone/rod dysfunction. We herein report a uveitis case of unknown cause for a long time which was finally diagnosed as ROSAH syndrome. |
| Methods | A 19-year-old female had a monthly periodic fever from the age of 4. She developed uveitis at the age of 6 and was referred to our clinic. Her visual acuity was 20/50 in both eyes and bilateral optic nerve edema and retinal vasculitis were found. Systemic examination did not show specific findings except for splenomegaly. Methylprednisolone pulse therapies were conducted, however, her visual impairment gradually progressed, and electroretinography response was lost at the age of 16. |
| Results | After anti-TNF-αtreatment of adalimumab was introduced, the retinal vascular leakage was resolved. Whole exome sequencing was adapted for genetic analysis and previously reported mutation in ALPK1 was identified. Based on these findings, she was diagnosed as ROSAH syndrome. |
| Conclusion | Ophthalmologists should be aware of the existence of juvenile onset oculopathy and splenomegaly called ROSAH syndrome, a newly recognized systemic disorder with characteristic clinical features. |
| Conflict of interest | No |
Authors 1
| Last name | ITO |
| Initials of first name(s) | T |
| Department | 1. Ophthalmology, Kyushu University |
| City | Fukuoka |
| Country | Japan |
Authors 2
| Last name | Yawata |
| Initials of first name(s) | N |
| Department | 1 |
| City | Fukuoka |
| Country | Japan |
Authors 3
| Last name | Sonoda |
| Initials of first name(s) | M |
| Department | 2. Perinatal and Pediatric Medicine, Kyushu University |
| City | Fukuoka |
| Country | Japan |
Authors 4
| Last name | Ishimura |
| Initials of first name(s) | M |
| Department | 2 |
| City | Fukuoka |
| Country | Japan |
Authors 5
| Last name | Hasegawa |
| Initials of first name(s) | E |
| Department | 1 |
| City | Fukuoka |
| Country | Japan |
Authors 6
| Last name | Ohga |
| Initials of first name(s) | S |
| Department | 2 |
| City | Fukuoka |
| Country | Japan |
Authors 7
| Last name | Sonoda |
| Initials of first name(s) | K |
| Department | 1 |
| City | Fukuoka |
| Country | Japan |
