Search

Importance To determine visual and surgical results in children with Marfan syndrome. Background Marfan syndrome involves ocular complications which can lead to visual disturbance and amblyopia. Data about the visual and surgical results in children with Marfan syndrome is vital for the clinical management of these patients. Design Retrospective data analysis. Participants Eighty‐two eyes of 41 patients with a genetically proved diagnosis of Marfan syndrome. Methods Medical records of patients with Marfan syndrome were reviewed between 2007 and 2017. Ocular complications, visual acuity (VA) of patients with/without lensectomy and surgical method were evaluated. Main Outcome Measures VA outcomes of patients with Marfan syndrome with/without surgical repair of ectopia lentis. Results In 27 (66%) of the 41 patients a bilateral subluxation of the lens was visible and 14 (52%) patients received lensectomy. The mean age at initial presentation was 12.3 ± 9 years and mean follow‐up was 3 years (range 1‐7). VA varied from 1.2 to −0.1 logMAR at first examination. At initial presentation, mean VA was 0.1 ± 0.7 logMAR in patients with a normal lens status (n = 14) and 0.3 ± 0.5 logMAR in patients with subluxation of the lens (n = 27) (P

The phosphorylation and the binding to DNA of the nuclear transcription factor, cyclic adenosine 3',5'-monophosphate (cAMP) response element-binding protein (CREB) are conserved key steps in the molecular cascade leading to the formation of long-term memory (LTM). Here, we characterize, for the first time, a CREB1-like protein in the central nervous system (CNS) of Lymnaea, a model system used widely for the study of the fundamental mechanisms of learning and memory. We demonstrate cAMP response element (CRE)-binding activity in CNS protein extracts and show that one of the CRE-binding proteins is recognized by a polyclonal antibody raised to mammalian (human) CREB1. The same antibody detects specific CREB1 immunoreactivity in CNS extracts and in the nuclei of most neurons in the brain. Moreover, phospho-CREB1-specific immunoreactivity is increased significantly in protein extracts of the CNS by forskolin, an activator of adenylate cyclase. The forskolin-induced increase in phospho-CREB1 immunoreactivity is localized to the nuclei of CNS neurons, some of which have an important role in the formation of LTM. Significantly, classical food-reward conditioning increases phospho-CREB1 immunoreactivity in Lymnaea CNS protein extracts. This increase in immunoreactivity is specific to the ganglia that contain the feeding circuitry, which undergoes cellular changes after classical conditioning. This work establishes the expression of a highly conserved functional CREB1-like protein in the CNS of Lymnaea and opens the way for a detailed analysis of the role of CREB proteins in LTM formation in this model system.