TABLE 2.
Müller glia (MG) genes associated with inherited retinal degeneration a .
| OMIM# | Gene | Protein | Cell type | Function | Phenotype b |
|---|---|---|---|---|---|
| 600308 | AQP4 | Aquaporin 4 | MG (Li et al., 2002) | Modulating water homeostasis in the retina | Inherited retinal dystrophy (Lassiale et al., 2016) |
| 613858 | PRSS56 | Serine protease 56 | MG (Paylakhi et al., 2018) | Modulating ocular axial growth | Microphthalmia, isolated 6 |
| 600342 | RGR | Retinal G protein-coupled receptor | Retinal pigment epithelium (RPE); MG (Jiang et al., 1993) | Converting all-trans retinal to 11-cis retinal | Retinitis pigmentosa 44 |
| 180090 | RLBP1 | Retinaldehyde binding protein 1 | RPE and MG (Maw et al., 1997) | Visual cycle | Bothnia retinal dystrophy; Fundus albipunctatus; Newfoundland rod-cone dystrophy; Retinitis punctata albescenes |
| 604210 | CRB1 | Crumbs cell polarity complex component 1 | Photoreceptor; MG (Pellissier et al., 2014) | Cellular polarity | Leber congenital amaurosis 8; Retinitis pigmentosa 12; Pigmented paravenous chorioretinal atrophy |
Unless otherwise specified, this table summarizes information of MG-associated genes in OMIM, Online Mendelian Inheritance in Man (https://www.omim.org/).
We note that multiple genes in inherited retinal degeneration are associated with syndromic disorders with multi-organ pathology. Only phenotypes associated with the retina are listed in the table.