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TitleA case report of ROSAH Syndrome, a juvenile onset ocular multisystem autosomal dominant disorder
PurposeROSAH 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.
MethodsA 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.
ResultsAfter 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.
ConclusionOphthalmologists 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 interestNo
Authors 1
Last nameITO
Initials of first name(s)T
Department1. Ophthalmology, Kyushu University
CityFukuoka
CountryJapan
Authors 2
Last nameYawata
Initials of first name(s)N
Department1
CityFukuoka
CountryJapan
Authors 3
Last nameSonoda
Initials of first name(s)M
Department2. Perinatal and Pediatric Medicine, Kyushu University
CityFukuoka
CountryJapan
Authors 4
Last nameIshimura
Initials of first name(s)M
Department2
CityFukuoka
CountryJapan
Authors 5
Last nameHasegawa
Initials of first name(s)E
Department1
CityFukuoka
CountryJapan
Authors 6
Last nameOhga
Initials of first name(s)S
Department2
CityFukuoka
CountryJapan
Authors 7
Last nameSonoda
Initials of first name(s)K
Department1
CityFukuoka
CountryJapan