Table 1 Systemic profile, management and follow up of the five patients in our case series.
ID | Age (years)/ sex | AIRE genotype | Retinal Phenotype | First ocular event (age) | Visual acuity at most recent follow up | Systemic APS1 manifestations | Immunotherapy given | Follow-up (years) |
|---|---|---|---|---|---|---|---|---|
Case 1 | 19 F | Homozygous c.967_979del; p.(Leu323Serfs*51) | No outer retinal involvement; mild papilledema | 14 y - papilledema | 20/20 both eyes | Classic triad (Chronic mucocutaneous candidiasis, hypoparathyroidism, adrenal insufficiency) | Systemic replacement steroids (hydrocortisone 25 mg daily split into 3 doses; fludrocortisone 300 mcg daily) | 5 |
Case 2a | 25 F | Homozygous c.769C>T; p.(Arg257*) | Right disc swelling. Zonal areas of outer retinal degeneration (radiating from optic disc in RE). | ~20 y – blurred vision | 20/40 RE, 20/40 LE | Classic triad | Systemic replacement steroids (hydrocortisone 15 mg daily split into 2 doses); fludrocortisone 100 mcg daily). | 2 |
Case 3 | 60 F | Compound heterozygous c.967_979del; p.(Leu323Serfs*51)/ c.1265del; p.(Pro422Leufs*58) | Areas of peripheral chorioretinal degeneration (multifocal in the right eye; more confluent in the left eye); vitreous debris; left epiretinal membrane. | 3 y - nyctalopia | 20/30 RE, 20/40 LE | Triad plus renal stones, type 1 diabetes | ,5 right eye sub-Tenon’s triamcinolone injections between the ages of 46 and 53; replacement steroids (hydrocortisone 20 mg daily and fludrocortisone 200 mcg daily) | 57 |
Case 4 | 69 F | Homozygous c.967_979del; p.(Leu323Serfs*51) | Widespread outer retinal degeneration involving central and peripheral retina with marked perivascular degeneration in the far periphery (both eyes). | 12 y - nyctalopia | Light-perception BE | Adrenal insufficiency, hypoparathyroidism, ovarian failure | Replacement steroids (further details not available) | 56 |
Case 5a | 33 F | Compound heterozygous c.967_979del; p.(Leu323Serfs*51)/ c.769C>T; p.(Arg257*) | Widespread outer retinal degeneration resembling retinitis pigmentosa (with sparing of the central macula, within a hyperautofluorescent ring) in both eyes. | 19 y - field constriction | 20/25 RE, 20/30 LE | Triad, ectodermal changes | Cyclosporine 100 mg daily; mycophenolate mofetil 2500 mg daily; prednisone 7.5 mg daily; beta-carotene 25,000 International units; lutein 20 mg; infliximab infusion every 8 weeks. Previously given Rituximab over 4-year period. | 14 |
Median | 33 5/5 F | 14 y | 20/20 | 14 |
