Molecular diagnosis: Implications for ophthalmology

Laboratory Diagnosis in Ophthalmology

493 instances of real data being used to describe and expand on discussion of the techniques. Many of the chapters deal with the philosophy of the technique, the advantages and disadvantages associated with it, and the type of empirical questions that can be addressed by the method. Chapters are also adequately referenced to allow further study, if desired, at a greater level of expertise on an...

Combination Therapies in Ophthalmology: Implications for Intravitreal Delivery

Most pathological processes involve complex molecular pathways that can only be modified or blocked by a combination of medications. Combination therapy has become a common practice in medicine. In ophthalmology, this approach has been used effectively to treat bacterial, fungal, proliferative/neoplastic, and inflammatory eye diseases and vascular proliferation. Combination therapy also encompa...

Molecular Diagnosis of Familial Hypercholesterolemia

Abstract Background and objectives: Familial hypercholesterolemia (FH) is an autosomal disorder characterized by increased levels of total cholesterol and low density lipoprotein cholesterol. The FH clinical phenotype has been associated with increased risk of coronary heart disease and premature death. The mutation in LDLR gene in most cases is responsible for FH phenotype. Furthermore, other ...

Molecular genetics as a 'probe' in ophthalmology.

Novel Implications in Molecular Diagnosis of Lynch Syndrome

About 10% of total colorectal cancers are associated with known Mendelian inheritance, as Familial Adenomatous Polyposis (FAP) and Lynch syndrome (LS). In these cancer types the clinical manifestations of disease are due to mutations in high-risk alleles, with a penetrance at least of 70%. The LS is associated with germline mutations in the DNA mismatch repair (MMR) genes. However, the mutation...