The case report by Owens et al,1 published in the February 1992 issue of the Archives was fascinating. We have observed and described a patient with a similar massive expression of granular dystrophy at a very young age.2
The pedigree of our patient strongly suggests that she was homozygous for the granular dystrophy gene because her family contained a complete Mendelian set: her father and mother were cousins and had typical simple granular dystrophy. Of the patient's three sisters, two had similar changes to the parents' and one was unaffected.
We recently examined another patient presenting at a relatively young age with very severe granular dystrophy whose cousin had typical granular dystrophy and who was also the product of a consanguinious marriage.
To my knowledge, there are several other reports of similar appearances in the literature, but in none of these is the heredity explained. There does, however,
Ridgway AEA. Superficial Granular Corneal Dystrophy With Amyloid Deposits. Arch Ophthalmol. 1993;111(7):901. doi:10.1001/archopht.1993.01090070019006
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: