Blindness (HP:0000618)
Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation.
Synonyms: Blindness, Legal blindness, Total vision loss
Comment: Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source.
Pubmed References: PMID:28779882
Cross References: Fyler:4866, MSH:D001766, SNOMEDCT_US:65956007, UMLS:C0271215, UMLS:C0456909
KEGG Pathway
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | Phototransduction | 0.00008446 | 0.0005068 | 191.96 | 1800.45 |
| 2 | Retinol metabolism | 0.03349 | 0.09401 | 33.04 | 112.22 |
| 3 | Drug metabolism | 0.05272 | 0.09401 | 20.65 | 60.76 |
| 4 | Purine metabolism | 0.06267 | 0.09401 | 17.24 | 47.76 |
| 5 | cGMP-PKG signaling pathway | 0.08045 | 0.09654 | 13.27 | 33.44 |
GO: Biological Process
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | protein localization to ciliary transition zone (GO:1904491) | 0.002997 | 0.02240 | 444.11 | 2580.41 |
| 2 | protein localization to non-motile cilium (GO:0097499) | 0.002997 | 0.02240 | 444.11 | 2580.41 |
| 3 | visual perception (GO:0007601) | 9.004e-8 | 0.000002895 | 149.07 | 2418.38 |
| 4 | sensory perception of light stimulus (GO:0050953) | 9.813e-8 | 0.000002895 | 145.78 | 2352.45 |
| 5 | regulation of rhodopsin mediated signaling pathway (GO:0022400) | 0.00006709 | 0.001319 | 217.03 | 2085.58 |
GO: Molecular Function
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | guanylate cyclase activator activity (GO:0030250) | 0.002498 | 0.01921 | 555.17 | 3326.77 |
| 2 | NADP-retinol dehydrogenase activity (GO:0052650) | 0.002997 | 0.01921 | 444.11 | 2580.41 |
| 3 | intracellular cGMP-activated cation channel activity (GO:0005223) | 0.003495 | 0.01921 | 370.07 | 2093.27 |
| 4 | intracellular cAMP-activated cation channel activity (GO:0005222) | 0.004492 | 0.01921 | 277.53 | 1500.17 |
| 5 | leucine zipper domain binding (GO:0043522) | 0.004990 | 0.01921 | 246.68 | 1307.49 |
GO: Cellular Component
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | sperm flagellum (GO:0036126) | 0.02570 | 0.1766 | 43.44 | 159.04 |
| 2 | 9+2 motile cilium (GO:0097729) | 0.02814 | 0.1766 | 39.55 | 141.22 |
| 3 | azurophil granule lumen (GO:0035578) | 0.04411 | 0.1766 | 24.85 | 77.54 |
| 4 | cytoplasmic vesicle lumen (GO:0060205) | 0.05605 | 0.1766 | 19.37 | 55.82 |
| 5 | ficolin-1-rich granule lumen (GO:1904813) | 0.05984 | 0.1766 | 18.09 | 50.96 |
Hub genes predicted as biomarkers & predicted FDA approved drugs
| Hub Genes (ranked) | FDA-Approved Drugs |
| RPGR | – |
| CRX | – |
| CNGA1 | DEQUALINIUM |
| GUCA1B | – |
| NR2E3 | – |
| PRPH2 | – |
| RDH12 | – |
| TULP1 | – |
| SPATA7 | – |
| IMPDH1 | MYCOPHENOLATE MOFETIL HYDROCHLORIDE, RIBAVIRIN, MYCOPHENOLATE MOFETIL, MYCOPHENOLIC ACID |
