Studies on Relatives of Patients With Glaucoma Simplex and Patients With Pseudoexfoliation of the Lens Capsule

Abstract

The occurrence of glaucoma and pseudoexfoliation of the lens capsule was investigated in 185 relatives, aged over 40, of patients with glaucoma simplex, glaucoma capsulare and normotensive pseudoexfoliation. The aggregate frequency of glaucoma and suspected glaucoma in the first group was 49, in the middle group 33 and the last group 9O/o. Pseudoexfoliation of the lens capsule was seen in 3 O i o of the glaucoma simplex relatives and 8 O / o of the pseudoexfoliation relatives. The genetic aspects of the findings are discussed.

Exfoliation syndrome: prevalence and inheritance in a subisolate of the Finnish population

“…In an Icelandic twin study, five of eight monozygotic twins with exfoliation were concordant for ES with their cotwin, supporting the role of genetics in the aetiology underlying ES (Gottfredsdottir et al 1999). A few studies (Tarkkanen 1962;Pohjanpelto & Hurskainen 1972;Aasved 1975;Damji et al 1999;Allingham et al 2001;Orr et al 2001) in families consisting of between two and four generations have been described. Depending upon the study material, different modes of inheritance have been suggested: autosomal dominant (Tarkkanen 1962;Aasved 1975;Orr et al 2001), autosomal recessive (Andersen et al 1997) and maternal transmissions such as X-linked, mitochondrial and autosomal inheritance with genomic imprinting (Damji et al 1999).…”

Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma: A Review of the Literature with Updates on Surgical Management

“…Genetic factors are now considered as predisposing factors for PES, although results are not clear and studies are still ongoing [ 20 ].…”

The Role of Apolipoprotein E Gene Polymorphisms in Primary Glaucoma and Pseudoexfoliation Syndrome

“…Some genes may act as susceptibility factors that allow other genes or environmental influences to produce PEX. Further, familial aggregation and the increased frequency of PEX in relatives of affected subjects compared with relatives of unaffected subjects [36,37] suggest an underlying genetic component [38]. The main problems with studies on the genetic background of PEX have been the asymptomatic nature of PEX and late age of onset which make it difficult to collect multi-generation families with several affected individuals for linkage and association studies.…”