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Mutations in the microphthalmia-associated transcription factor ( Mitf ) gene can cause retinal pigment epithelium (RPE) and retinal dysfunction and degeneration. We examined retinal and RPE structure and function in 3 month old mice homo- or heterozygous or compound heterozygous for different  Mitf  mutations ( Mitf   mi - vga9 /+ ,  Mitf   mi - enu22 ( 398 ) / Mitf   mi - enu22 ( 398 ) ,  Mitf   Mi - Wh /+  and  Mitf   Mi - Wh  / Mitf   mi  ) which all have normal eye size with apparently normal eye pigmentation. Here we show that their vision and retinal structures are differentially affected. Hypopigmentation was evident in all the mutants while bright-field fundus images showed yellow spots with non-pigmented areas in the  Mitf   mi - vga9 /+  mice.  Mitf   Mi - Wh /+  and  Mitf   Mi - Wh  / Mitf   mi   mice showed large non-pigmented areas. Fluorescent angiography (FA) of all mutants except  Mitf   mi - vga9 /+  mice showed hyperfluorescent areas, whereas FA from both  Mitf  - Mi - Wh /+  and  Mitf   Mi - Wh  / Mitf   mi   mice showed reduced capillary network as well as hyperfluorescent areas. Electroretinogram (ERG) recordings show that  Mitf   Mi - Wh /+  and  Mitf   Mi - Wh  / Mitf   mi   mice are severely impaired functionally whereas the scotopic and photopic ERG responses of  Mitf   mi - vga9 /+  and  Mitf   mi - enu22 ( 398 ) / Mitf   mi - enu22 ( 398 )  mice were not significantly different from wild type mice. Histological sections demonstrated that the outer retinal layers were absent from the  Mitf   Mi - Wh /+  and  Mitf   Mi - Wh  / Mitf   mi   blind mutants. Our results show that  Mitf  mutations affect eye function, even in the heterozygous condition and that the alleles studied can be arranged in an allelic series in this respect.

The microphthalmia-associated transcription factor (Mitf) gene and its role in regulating eye function