title: Autosomal dominant zonular cataract with sutural opacities in a four-generation family.
abstract: OBJECTIVE
  We identified and examined four generations of a family with coexisting autosomal dominant zonular cataracts and sutural opacities and sought to determine their genetic basis.
  
  
  METHODS
  Twenty-four of the 48 members in the family were examined. Systemic and ocular histories were obtained, and a detailed ophthalmic examination was performed. From each individual, 20 ml of blood was drawn for linkage studies with microsatellite markers in regions to which zonular cataracts had previously been localized (chromosomes 1, 2, and 16).
  
  
  RESULTS
  Individuals of the first generation were reportedly asymptomatic. Several members of the second generation had morphologically identical zonular cataracts. Affected members of the third generation showed morphologic heterogeneity, with the zonular opacity varying from a uniform lamella to a segregation of dots. A high degree of consanguinity in the second generation suggested recessive inheritance with a pseudodominant inheritance pattern. However, examination of one member of the asymptomatic first generation disclosed senile cataractous changes superimposed on a faint zonular cataract enclosing sutural opacities and a pulverulent fetal nucleus. The latter findings were reconfirmed to be present in affected members of all generations, suggesting an autosomal dominant mode of inheritance. Initial efforts at linkage analysis excluded the gene locus causing this cataract from the Duffy, haptoglobin, and gamma-crystallin regions.
  
  
  CONCLUSIONS
  The cataract in this family is both phenotypically and genetically distinct from previously described and mapped cataracts.
authors.affiliation: L. V. Prasad Eye Institute, Hyderabad, India. basti@lvpeye.stph.net
authors.forename: S
authors.initials: S
authors.lastname: Basti
authors.forename: J F
authors.initials: JF
authors.lastname: Hejtmancik
authors.forename: T
authors.initials: T
authors.lastname: Padma
authors.forename: R
authors.initials: R
authors.lastname: Ayyagari
authors.forename: M I
authors.initials: MI
authors.lastname: Kaiser-Kupfer
authors.forename: J S
authors.initials: JS
authors.lastname: Murty
authors.forename: G N
authors.initials: GN
authors.lastname: Rao
mesh_terms: D000293:Adolescent; D000368:Aged; D002386:Cataract / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D002878:Chromosomes, Human, Pair 1; D002885:Chromosomes, Human, Pair 16; D002889:Chromosomes, Human, Pair 2; D003241:Consanguinity; D004247:DNA / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D007908:Lens, Crystalline / Q000473:pathology; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree
chemical_list: D004247:DNA