The genes involved in inherited macular dystrophies such as ATP-binding cassette, subfamily A (ABC1), member 4 (ABCA4), vitelliform macular dystrophy (VMD2), tissue inhibitor of matrix metalloproteinase-3 (TIMP3), and EFEMP1have yielded some important information but further confirmatory work has yet to establish a clear association with AMD.
The frequency of ORT were; 6 out of 183 (3%) eyes in RP, 2 out of 93 (2%) eyes in STGD, and 4 out of 33 (12%) eyes with Best disease and this difference in frequency was found to be statistically significant (χ = 6.93, p = 0.03).
The missense mutation, 719G > C, causing the substitution of highly conserved alanine residue at 171 with proline in the actin binding domain of the dystrophin, is associated with a BMD phenotype.
Multifactor dimensionality reduction for interactions among genes revealed a 4-locus model of BMPR-2 rs6717924G/A; ALK-1rs11169953C/T-rs706816T/C and 5-HTT rs6354A/C as the best disease predicting (P≤0.001); whereas HapEvolution analysis confirmed the alleles rs6717924A, rs4303700A and rs6354C as the best interacting (P≤0.01).
Among patients with lymph node metastasis, those with high tumour-infiltrating lymphocyte levels and low ADAR1 expression demonstrated the best disease-free survival.
In conclusion, we found no association between polymorphism in ALOX15 and BMD phenotypes but were able to replicate previous findings that genetic variation in ALOX12 seems to play a role in determining bone structure in Caucasian women.
In conclusion, we found no association between polymorphism in ALOX15 and BMD phenotypes but were able to replicate previous findings that genetic variation in ALOX12 seems to play a role in determining bone structure in Caucasian women.
Although SC35, SRp40 and SRp55 proteins all bound to the wild-type and mutated sequences with similar intensities, there was increased binding of ASF/SF2 to the two ADVIRC-mutated sequences compared with the wild-type or Best disease-mutated sequences.
Four family members with the c.253T>C p.Y85H mutation in the BEST1 gene and BVMD in different stages also exhibited anterior segment abnormalities such as shallow anterior chambers (two cases), and reduced axial lengths in all cases.
The gene encoding ROM1, a photoreceptor-specific membrane protein, has been independently mapped within the Best's disease region and has thus become a strong candidate for the Best's disease gene.
To describe the presenting features and functional outcomes in a series of patients with choroidal neovascular membrane complicating BEST1-related retinopathy (Best disease and autosomal recessive bestrophinopathy).
The majority of disease-associated mutations in <i>BEST1</i> constitute missense mutations and were shown <i>in vitro</i> to lead to a reduction in mutant protein half-life causing Best disease (BD), a rare autosomal dominant macular dystrophy.
As demonstrated in these consanguineous families, a great clinical variability is associated with homozygous mutations in BEST1, ranging from severe dominant BVMD with reduced penetrance in heterozygotes to autosomal recessive bestrophinopathy.
In three of five family members, the sequence analysis of the BEST1 gene revealed a single Phe-to-Leu transition at nucleotide 305 associated with clinical evidence of Best disease.