title: [Hereditary ectopia lentis].
abstract: If not due to trauma, ectopia lentis is usually caused genetically. It is a main symptom of several syndromal disorders such as Marfan syndrome or homocystinuria. Also other connective tissue disorders convey an elevated risk for ectopia lentis. Isolated ectopia lentis is frequently caused by genetic alterations as well, most commonly due to mutations in ADAMTSL4. Depending on the molecular basis, the consequences for the management of patients may differ significantly: On the one hand, possible accompanying symptoms may require a specific surveillance and treatment. Also, the risk for other family members to develop ectopia lentis or accompanying symptoms can only be determined if the genetic cause and thus inheritance pattern are known. This review describes the different types and genetic causes of syndromal and isolated ectopia lentis as well as possible consequences for the patients; also it presents a sensible algorithm for the molecular diagnostic approach.
authors: Humangenetik, Medizinisch Genetisches Zentrum, München.
authors: T M
authors: TM
authors: Neuhann
mesh_terms: D000071096:ADAMTS Proteins; D000465:Algorithms; D004252:DNA Mutational Analysis / Q000379:methods; D003937:Diagnosis, Differential; D004479:Ectopia Lentis / Q000175:diagnosis* / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D009154:Mutation; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D019699:Thrombospondins / Q000235:genetics
chemical_list: C486779:ADAMTSL4 protein, human; D005819:Genetic Markers; D019699:Thrombospondins; D000071096:ADAMTS Proteins