Table 1 Clinical and genetic features of 7 NLRP3-AID patients with ocular involvement.
From: Ocular manifestations in Chinese adult patients with NLRP3-associated autoinflammatory disease
Patients | 1 | 2 | 3 | 4 | 5 | 6 | 7 |
|---|---|---|---|---|---|---|---|
Gender | M | M | F | M | F | M | F |
Ethnicity | Han | Han | Han | Han | Han | Han | Han |
Age at onset, years old | 2 | 2 | 0 (at birth) | 10 | 2 | 6 | 6 |
Age at diagnosis, years old | 23 | 31 | 20 | 22 | 39 | 32 | 45 |
Diagnosis delay, years | 21 | 29 | 20 | 12 | 37 | 26 | 39 |
Family history | − | − | + | − | + | + | + |
Fever | + | + | + | + | + | + | + |
Rash | + | + | + | + | + | + | + |
Oral ulcers | + | − | − | − | − | − | + |
Arthralgia/arthritis | − | + | + | + | + | + | + |
Hearing loss | − | + | + | + | + | + | + |
Central nervous system involvement | + | + | − | + | + | + | + |
Lymphadenopathy | − | + | − | − | + | − | − |
Lower limbs edema | − | − | − | − | + | − | + |
Myalgia | + | − | − | + | − | + | + |
Abdominal pain | − | − | − | − | − | − | + |
Fatigue | + | + | + | + | + | + | + |
Amyloidosis | − | − | − | − | − | − | − |
Eye involvement | |||||||
Conjunctivitis | + | + | + | + | + | + | + |
Uveitis | − | − | + | − | − | − | + |
Glaucoma | − | − | − | − | − | − | + |
Papilledema | − | + | + | + | + | + | − |
Optic neuritis | − | + | − | − | + | − | − |
Optic atrophy | − | + | − | + | − | − | − |
Acute phase reactants elevation | + | + | + | + | + | + | + |
NLRP3 variants | p.V70M | p.T348M | p.D303G | p.T348M | p.T348M | p.G326E | p.A439V |
Treatments* | |||||||
Glucocorticoids | +++$ | ++ | NU | ++ | ++ | NU | ++ |
Immunosuppressants | NU | MTX, ++ | MTX, ++ | MTX, ++ | MMF, ++ | NU | AZA,++ |
TNFα inhibitors | NU | +++ | +++ | +++ | NU | NU | NU |
