PubMed · 2228476
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B C Joondeph, H H Tessler. 1990. Multifocal choroiditis.. https://doi.org/10.1097/00004397-199030040-00015
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Wegener's granulomatosis is a necrotizing, granulomatous vasculitis. It usually causes sinusitis, pneumonitis and glomerulonephritis. The common ocular manifestations include conjunctivitis, scleritis, peripheral keratitis and orbital inflammation. We report the case of a 50-year-old woman with Wegener's granulomatosis and very severe ocular complications who underwent bilateral enucleation. The pathologic findings of the eyeballs revealed granulomatous necrotizing scleritis, perivasculitis and granulomatous choroiditis. The last, as far as we know, has not yet been reported.
Inherited retinal dystrophies are important causes of blindness in the Western world. Molecular genetic techniques, and the use of large pedigrees exhibiting such conditions, have been instrumental in finding causative disease genes. The genealogy of families with a rare condition known as Doyne's honeycomb retinal degeneration was first described in 1899. Investigating this phenotype is extremely important because of the similarities it shares with age-related macular degeneration, and it may lead us to a gene that is involved in this complex genetic trait. In this paper we review the original genealogy of the families described by Doyne, and explain the methods used to identify the living descendants of these families.
Atrophia areata (AA) is an early onset autosomal dominant helicoid peripapillary chorioretinal degeneration, which was first demonstrated to be hereditary in an Icelandic family. It is characterized by bilateral wing-shaped atrophic areas of the retina, radiating from the optic disk. Primary complaints of affected individuals are due to refractive errors and scotomata associated with myopia which increases with age. A genome linkage search with 112 microsatellite DNA markers resulted in the highest probability of location for AA on chromosome 11. We genotyped 18 polymorphic markers on chromosome 11 and seven showed significant linkage to AA. The markers D11S1323 and D11S902 on 11p15 flank the region encompassing the gene for AA.