Table 2.
RPE directional secretion of proteins encoded by disease genes.
| Disease | Protein | A/BL |
|---|---|---|
| Mendelian posterior segment disease | ||
| Oculocutaneous albinism (OCA) | TYRP1 | 3.7** |
| Tay-Sachs | HEXA | 3.4*** |
| Stickler syndrome | COL11A1 | 3.3** |
| Stickler syndrome | COL9A2 | 2.4** |
| Cone-rod dystrophy | CDHR1 | 2.0** |
| Retinitis pigmentosa (RP) | SNRNP200 | 2.0** |
| Late onset retinal degeneration (LORD) | C1QTNF5 | 1.0 |
| Doyne honeycomb macular dystrophy | EFEMP1 | 0.9 |
| Cone-rod dystrophy | ADAM9 | 0.5** |
| Microphthalmia; retinal dystrophy, iris coloboma, and comedogenic acne syndrome | RBP4 | 0.4*** |
| Sorsby macular dystrophy | TIMP3 | 0.1** |
| Mendelian anterior segment disease | ||
| Congenital cataract | CRYAB | 10.2**** |
| Mucopolysaccharidosis type IV (with corneal clouding) | GLB1 | 7.5*** |
| Primary open angle glaucoma (POAG) | OPTN | 5.3** |
| Congenital Cataract | VIM | 4.4*** |
| Corneal dystrophies | TGFBI | 3.2* |
| Amyloidosis, meretoja syndrome; lattice corneal dystrophy | GSN | 2.0* |
| Gaucher disease (with corneal opacities) | GBA | 2.0* |
| Other Mendelian ophthalmic disease | ||
| Microphthalmia | ALDH1A3 | 5.4*** |
| Progressive external ophthalmoplegia | RRM2B | 4.8*** |
| Age-related macular degeneration risk loci | C3 | 1.5* |
| FBLN5 | 1.3 | |
| CFH | 1.3 | |
| HTRA1 | 1.2 | |
| CFI | 0.6** | |
| TIMP3 | 0.1** | |
A/BL = apical to basolateral ratio; proteins are listed from highest to lowest A/BL within each category. Bold highlights proteins with more basolateral than apical secretion. P-values were calculated with a two-tailed student’s T-test with a Benjamin-Hochberg adjustment. P-value < 0.05 (*), < 0.01 (**), < 0.001 (***), < 0.0001 (****), or > 0.05 (non-significant, no asterisk).