Syndromic Retinopathy

Gene: AIRE

Green List (high evidence)

Retinopathy is a feature: peripheral pigmentary changes are noted in all cases, ranging from isolated patchy atrophy of the retinal pigment epithelium to a retinitis pigmentosa-like fundus. Macular atrophy with vision loss is found in most. The severity of ophthalmic findings is uncorrelated to that of systemic manifestations. An autoimmune origin with specific autoantibodies directed against corneal and/or retinal autoantigens is the main mechanism believed to be responsible for the ocular manifestations of APS1.
Sources: NHS GMS

Created: 10 Oct 2020, 5:24 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300

Publications

• 27606815

Green List (high evidence)

AD inheritance has been reported in a single family (OMIM)

p.G228W has been shown to have a dominant-negative effect by binding to WT AIRE (OMIM)

Created: 3 Mar 2020, 12:34 a.m. | Last Modified: 3 Mar 2020, 12:34 a.m.

Panel Version: 0.1590

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia

Mode of pathogenicity
Other