Abstract

Three disease genes for Leber Congenital Amaurosis (LCA), early onset Retinitis Pigmentosia (RP) and Cone-Rod Dystrophy (CRD) were discovered in 1996 and 1997. Each of the genes has been implicated in LCA, RP or CRD. These are recessively inherited disorders that lead to visual impairment and blindness of pediatric patients. The three genes are: 1) CRX, involved in opsin expression and photoreceptor differentiation; expressed in the photoreceptors; 2) RetGC, Retinal Guanylyl Cyclase; also expressed in the photoreceptors; and 3) RPE65, expressed in the retinal pigment epithelium; possibly the isomerase in the visual cycle. It is likely that these genes govern human retinal functions that can be evaluated by appropriate tests.
Specific Aims : 1) Test patients with LCA, early RP, and CRD and family members for mutations of CRX, RetGC and RPE65 genes. 2) Use electroretinography (ERG), Dark Adaptation studies and Reflection Retinal Densitometry to test the hypothesis of altered retinal function. 3) Examine the genotypes and retinal phenotypes (that is, the parameters of retinal function) for significant relations.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
3M01RR002172-17S2
Application #
6265648
Study Section
Project Start
1998-12-01
Project End
1999-11-30
Budget Start
1998-10-01
Budget End
1999-09-30
Support Year
17
Fiscal Year
1999
Total Cost
Indirect Cost

  Institution

Name
Children's Hospital Boston
Department
Type
DUNS #
076593722
City
Boston
State
MA
Country
United States
Zip Code
02115

  Publications

Cassidy, Adam R; Bernstein, Jane Holmes; Bellinger, David C et al. (2018) Visual-spatial processing style is associated with psychopathology in adolescents with critical congenital heart disease. Clin Neuropsychol :1-19
Bean Jaworski, Jessica L; White, Matthew T; DeMaso, David R et al. (2018) Visuospatial processing in adolescents with critical congenital heart disease: Organization, integration, and implications for academic achievement. Child Neuropsychol 24:451-468
Hron, Bridget M; Ebbeling, Cara B; Feldman, Henry A et al. (2017) Hepatic, adipocyte, enteric and pancreatic hormones: response to dietary macronutrient composition and relationship with metabolism. Nutr Metab (Lond) 14:44
Rollins, Caitlin K; Asaro, Lisa A; Akhondi-Asl, Alireza et al. (2017) White Matter Volume Predicts Language Development in Congenital Heart Disease. J Pediatr 181:42-48.e2
Sakai Bizmark, Rie; Chang, Ruey-Kang R; Tsugawa, Yusuke et al. (2017) Impact of AHA's 2007 guideline change on incidence of infective endocarditis in infants and children. Am Heart J 189:110-119
Selamet Tierney, Elif Seda; Hollenbeck-Pringle, Danielle; Lee, Caroline K et al. (2017) Reproducibility of Left Ventricular Dimension Versus Area Versus Volume Measurements in Pediatric Patients With Dilated Cardiomyopathy. Circ Cardiovasc Imaging 10:
Kim, So Hyun; Joseph, Robert M; Frazier, Jean A et al. (2016) Predictive Validity of the Modified Checklist for Autism in Toddlers (M-CHAT) Born Very Preterm. J Pediatr 178:101-107.e2
Leviton, Alan; Allred, Elizabeth N; Fichorova, Raina N et al. (2016) Antecedents of inflammation biomarkers in preterm newborns on days 21 and 28. Acta Paediatr 105:274-80
Cousminer, Diana L; Widén, Elisabeth; Palmert, Mark R (2016) The genetics of pubertal timing in the general population: recent advances and evidence for sex-specificity. Curr Opin Endocrinol Diabetes Obes 23:57-65
Keerthy, Divya; Youk, Ada; Srinath, Arvind I et al. (2016) Effect of Psychotherapy on Health Care Utilization in Children With Inflammatory Bowel Disease and Depression. J Pediatr Gastroenterol Nutr 63:658-664

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