RESUMEN
We have ascertained a large number of individuals and families with exfoliation syndrome in order to clarify the disorder's mode of inheritance. Patients with exfoliation syndrome and their relatives were recruited from the practices of a group of ophthalmologists in Maritime Canada. The degree to which the subjects were affected was graded according to a standardized 1-4-point clinical scheme. Pedigrees were constructed from information supplied by family members and from genealogical sources. A total of 782 patients and relatives participated, of whom 467 were definitely affected. The mean age of affected males and females did not differ significantly, but females appeared to be more severely affected at ascertainment than males. More than half of the affected subjects had definite exfoliation in only one eye. Approximately 30 multiplex families were discovered, including one containing 23 affected members among a total of 137 examined individuals that constitutes the largest exfoliative pedigree thus far described. We observed well-documented paternal transmission of the trait, a finding that has not to our knowledge been previously reported. Clustering of cases in the families provides evidence for the involvement of genetic factors. The possibility of homozygosity is suggested in a few patients by the earlier or more frequent presentation of the disorder in the offspring of two affected parents or consanguineous pairings. Although a multifactorial mode of inheritance cannot be excluded, exfoliation syndrome appears to be inherited as an autosomal dominant trait whose late onset and incomplete penetrance poses a significant but not insuperable obstacle to pedigree construction.
Asunto(s)
Síndrome de Exfoliación/genética , Predisposición Genética a la Enfermedad , Glaucoma de Ángulo Abierto/genética , Anciano , Anciano de 80 o más Años , Transmisión de Enfermedad Infecciosa , Síndrome de Exfoliación/complicaciones , Composición Familiar , Femenino , Glaucoma de Ángulo Abierto/complicaciones , Homocigoto , Humanos , Masculino , Persona de Mediana Edad , Linaje , Tamaño de la MuestraAsunto(s)
Cromosomas Humanos Par 6/genética , Proteínas de la Matriz Extracelular , Proteínas del Ojo , Atrofias Ópticas Hereditarias/genética , Proteoglicanos , Receptores de GABA-B , Mapeo Cromosómico , Consanguinidad , Marcadores Genéticos , Genotipo , Glicoproteínas/genética , Humanos , Escala de Lod , Linaje , Receptores de GABA/genética , Receptores de GABA-ARESUMEN
Primary retinal telangiectasis or Coats' disease is a non-hereditary retinal vascular abnormality consisting of incompetent telangiectatic and aneurysmal retinal vessels. It is characteristically found unilaterally in boys and occasionally may be associated with other systemic disorders. The authors report the first case of primary retinal telangiectasis with a concomitant diffuse central nervous system venous abnormality.