Congenital endothelial corneal dystrophy. Clinical, pathological, and genetic study.

The hereditary corneal dystrophies are remarkable in that only rarely do sufficient opacifications exist at birth or appear during infancy to merit both the prefix "congenital", i.e. a disturbance present at birth, and "dystrophy", i.e. a disturbance developing on a hereditary basis in apparently normal tissue. The term as used has referred to a bilateral symmetrical diffuse opacification of the cornea, with oedema but without vascularization, present from an early age and accompanied by marked impairment of vision. This disorder was originally described by Laurence (I863) as corneitis interstitialis in utero and later by Saltini (I887) as "congenital opacity of the cornea". Although there existed some similarities in appearance with syphilitic interstitial keratitis, the absence of any of the accompanying stigmata of syphilis was well recognized by early investigators, who also commented on the absence of corneal opacification in stillborn foetuses with widespread syphilitic infection (Armaignac, I 9 I I). More recently it has been termed diffuse "degenerative congenital corneal dystrophy" (Waardenburg, Franceschetti, and Klein, i96i), "hereditary congenital corneal dystrophy" (Maumenee, I960; Kenyon and Maumenee, I968), and "congenital macular opacity" (Duke-Elder, I964). Despite agreement concerning the clinical picture, no well-documented and readily confirmed histological changes considered responsible for the condition have yet been described. This report presents the clinical, pathological, and genetic findings obtained from a family with an hereditary congenital corneal dystrophy in which distinctive histological changes have been detected.