OCULAR INVOLVEMENT IN KERATOSIS-FOLLICULARIS ASSOCIATED WITH RETINITIS-PIGMENTOSA

In 1988, Itin et al. published the combination of keratosis follicular is (KF; Darier-White disease), an autosomal-dominantly transmitted gen odermatosis, and retinitis pigmentosa (RP) in two brothers. One of the se patients died unexpectedly at the age of 54 years. His eyelids and globes were histologically studied post mortem. Involvement of the eye lids has rarely been described clinically and not at all histologicall y. The skin and the intermarginal zone of the lids exhibited the typic al changes of this cutaneous disease involving the follicles of the ey elashes. Focal keratinizations of the limbal conjunctiva, a regional i ncrease in conjunctival goblet cells and a diffuse thickening of the b asement membrane of the corneal epithelium were present, They are prob ably not specific for KF. The retinal findings were those of a typical late stage of RP, The combination of both genetically transmitted dis orders could point to a damage in neighbouring gene loci. An abnormali ty of the metabolism of vitamin A was supposed to play a pathogenetic role in both diseases but remains speculative, as does a genetic linka ge.