Document Detail

Clinical and genetic heterogeneity in retinitis pigmentosa.
MedLine Citation:
PMID:  2227956     Owner:  NLM     Status:  MEDLINE    
The clinical course of defective vision and blindness has been investigated in relation to different modes of genetic transmission in a large series of 93 families with retinitis pigmentosa (RP). For autosomal dominant RP, two clinical subtypes could be distinguished according to the delay in macular involvement. In the severe form, macular involvement occurred within 10 years, while in the mild form, macular involvement occurred after 20 years. Interestingly, a significant increase of mean paternal age (38.8 years, mean controls in France = 29.1 years, P less than 0.001) was found in this form of RP, a feature which is suggestive of new mutations. For autosomal recessive RP, four significantly different clinical subtypes could be recognized, according to both age of onset and the pattern of development (P less than 0.001), namely cone-rod dystrophy and early-onset severe forms on the one hand (mean age of onset = 7.6 years), late-onset mild forms and senile forms on the other. Similarly, two significantly different clinical subtypes could be recognized in X-linked RP, according to both mode and age of onset, which were either myopia (mean age = 3.5 +/- 0.5 years) or night blindness (mean age = 10.6 +/- 4.1 years. P less than 0.001). By contrast, no difference was noted regarding the clinical course of the disease, which was remarkably severe whatever the clinical subtype (blindness before 25 years). In addition, all obligate carriers in our series were found to have either severe myopia or pigment deposits in their peripheral retina. Finally, sporadic RP represented the majority of cases in our series (42%). There was a considerable heterogeneity in this group, and at least three clinical forms could be recognized, namely cone-rod dystrophy, early onset-severe forms and late onset moderate forms. At the beginning of the disease, the hereditary nature of the sporadic forms was very difficult to ascertain (especially between 7-10 years) and only the clinical course could possibly provide information regarding the mode of inheritance. However, the high level of consanguinity, and the high sex ratio in early onset and severe sporadic forms (including cone-rod dystrophy), was suggestive of an autosomal or X-linked recessive inheritance, while increased paternal age in late onset forms was suggestive of autosomal dominant mutations.
J Kaplan; D Bonneau; J Frézal; A Munnich; J L Dufier
Related Documents :
2964566 - Saccades in huntington's disease: slowing and dysmetria.
11722316 - Associations between childhood living circumstances and schizophrenia: a population-bas...
9452786 - Further epidemiological evidence for anticipation in schizophrenia.
1621136 - Is age of onset in schizophrenia influenced by marital status? some remarks on the diff...
19184506 - Prevalence and intensity of oestrus ovis in sheep of shiraz, southern iran.
23592656 - Sympathetic support of energy expenditure and sympathetic nervous system activity after...
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human genetics     Volume:  85     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1990 Oct 
Date Detail:
Created Date:  1990-12-26     Completed Date:  1990-12-26     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  635-42     Citation Subset:  IM    
Clinique de Génétique Médicale, Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U.12, Hôpital des Enfants-Malades, Paris, France.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Age Factors
Child, Preschool
Genes, Dominant
Genes, Recessive
Linkage (Genetics)
Middle Aged
Prospective Studies
Retinitis Pigmentosa / genetics*
X Chromosome

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Acute intermittent porphyria caused by a C----T mutation that produces a stop codon in the porphobil...
Next Document:  Fragile X expression and X inactivation. I. The expression of the fragile site at Xq27.3 is not supp...