To explore the relationship between retinol and TTR protein, and to provide ideas for preventing Hereditary vitreous amyloidosis (HVA).

Twenty Gly83Arg mutant mice were constructed and bred (reference construction ^[2]) as the mutant group. After the irregular turbidity in the vitreous of the mutant mice eyeball was observed under slit lamp, the lens camera was used for photography, and B-ultrasound examination was conducted, and white clump-like turbidity was found in the posterior ocular region. After the turbidity in the vitreous cavity of the mice was confirmed, the mice were killed by cervical vertebrae dislocation, and DNA in liver cells was extracted and sequenced to confirm the successful construction of mutant mice. At the same time, 20 wild type C57BL/6 mice were fed as the control group, 4 mice in the mutant group and 4 mice in the control group were randomly selected from the number table, and the retinol concentration was determined by high performance liquid chromatography combined with mass spectrometry. Three mice in the mutant group and three mice in the control group were selected from a random number table. After grinding the eyeball tissues, RNA and protein were extracted. TTR gene mRNA expression, SDS-PAGE protein gel color development was detected by fluorescent quantitative PCR, and TTR gene protein expression was detected by Western Blot. The difference at P < 0.05 was statistically significant.

The mutation site was consistent with the site successfully modeled by our research group in the previous stage. Heterozygous mutation occurred at the G base at the 107th position of exon 3 (C.107G →C), and the codon of the amino acid at the 83rd position was mutated from GGC to CGC (Gly83Arg). The concentration of retinol in eye of mutant mice was lower than that of normal mice in control group, the content of retinol in liver tissue of mutant mice was higher than that in control group, and the content of retinol in blood of mutant mice was lower than that in control group (eyeball: t=6.600, P=0.022; liver: t=9.045, P<0.001; blood: t=4.343, P=0.012). Fluorescence quantitative PCR results showed that mRNA expression in eyeball tissue of mutant group was lower than that of control group (t=5.764，P=0.004). SDS-PAGE protein gel color showed that protein bands appeared in the mutant group near 11kD. Western Blot showed that TTR gene protein expression in mutant group was lower than that in control group (t=37.48，P<0.001).

The deposition of vitreous amyloid protein in the eyeball tissue of Gly83Arg mutant mice may be related to the increase of mutant TTR protein and the decrease of retinol, which has important significance for future prevention and treatment.