Table 2.
Animal models | Gene | Function | SD-OCT findings | EM and LM findings | References |
---|---|---|---|---|---|
RCS–/– | mertk | Phagocytosis of RPE | Hyperreflective zone in IS-OS layer | Deposition of lamellar materials | [34, 36] |
Thinning of ONL | Degeneration of IS-OS | ||||
RHO P23H | RHO (P23H) | Phototransduction | Hyperreflective zone in IS-OS layer | Disarrangement of OS discs | [43, 44] |
Thinning of ONL | Degeneration of IS-OS | ||||
RHO S334ter | RHO (S334ter) | Phototransduction | Hyperreflective zone in IS-OS layer | Degeneration of IS-OS | [47] |
Thinning of ONL | Deposition of granular materials | ||||
RHO–/– | RHO | Phototransduction | Absence of EZ and IZ | Absence of OS | [33, 50–52] |
Hyporeflective zone under ELM | Short IS | ||||
Rpe65–/– | Rpe65 | Visual cycle | Hyperreflective zone in IS-OS layer | Degeneration of IS-OS | [35, 50] |
Thinning of ONL | Shortage of OS length | ||||
Lipid deposition in RPE | |||||
rd12 | Rpe65 (R44ter) | Visual cycle | Hyperreflective zone in IS-OS layer | Disorganized OS | [64] |
Thinning of ONL | Intracellular vacuoles in ONL | ||||
Lipid deposits in RPE | |||||
rd 1 | Pde6β (R560C) | Phototransduction | Extremely thin ONL | [33, 52, 70] | |
rd10 | Pde6β (Y347ter) | Phototransduction | Transiently hyperreflective ONL | Intracellular vacuoles in ONL | [60, 66, 70, 71] |
Arr1–/– | Arrestin 1 | Quenching of rhodopsin | IS vesiculation | [75] | |
Diffuse hyperreflective ONL by light exposure | Disruption of IS-OS junction | ||||
Condensation of nuclei in ONL |
IS-OS, inner and outer segments; ONL, outer nuclear layer; EZ, ellipsoid zone; IZ, interdigitation zone; RPE, retinal pigment epithelium.