title: Rhodopsin p.N78I dominant mutation causing sectorial retinitis pigmentosa in a pedigree with intrafamilial clinical heterogeneity.
abstract: OBJECTIVE
  The purpose of this study was to determine the molecular basis of retinitis pigmentosa (RP) in a 4 affected sib-family segregating this retinal phenotype.
  
  
  METHODS
  Affected sibs underwent complete ophthalmologic examination including funduscopic inspection, electroretinogram, fluorescein angiography, visual field measurement, and optical coherence tomography. Both parents were deceased after their sixties and were reported with no visual handicap. Molecular analysis included direct nucleotide sequencing of the rhodopsin gene (RHO), at chromosome 3q21-q24, in DNA from a total of 4 affected sibs. A total of 200 ethnically matched alleles were included as mutation controls.
  
  
  RESULTS
  Sector RP was clinically documented in this family. Wide phenotypic variability was observed with visual acuities ranging from 20/20 to 20/200 and variable funduscopic appearance. Molecular analysis disclosed a c.233A>T mutation at RHO exon 1, predicting a missense p.N78I substitution.
  
  
  CONCLUSIONS
  Even though RP can be caused by mutations in a variety of genes, the RHO gene was chosen to be investigated in this RP family since it has been previously associated to sector disease. This case exemplifies the value of guiding RP molecular analysis based on funduscopic features.
authors: Retina Department, Institute of Ophthalmology, Conde de Valenciana, Mexico City, Mexico.
authors: David
authors: D
authors: Rivera-De la Parra
authors: Jesus
authors: J
authors: Cabral-Macias
authors: Margarita
authors: M
authors: Matias-Florentino
authors: Gabriela
authors: G
authors: Rodriguez-Ruiz
authors: Violeta
authors: V
authors: Robredo
authors: Juan Carlos
authors: JC
authors: Zenteno
mesh_terms: D000368:Aged; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005091:Exons; D005260:Female; D005451:Fluorescein Angiography; D005799:Genes, Dominant; D018740:Genetic Heterogeneity; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*; D013312:Stress, Physiological; D014792:Visual Acuity; D014794:Visual Fields
chemical_list: D012243:Rhodopsin