A Clinical Result of PKP performed on the Family with Congenital Hereditary Endothelial Dystrophy

PURPOSE: Congenital hereditary endothelial dystrophy is a rare disease and is usually characterized by diffuse, bilaterally symmetric corneal opacity and edema inherited by autosomal dominant or recessive pattern. We experienced this rare disease and performed PKP. We report the result with a review of the literature. METHODS: We performed PKP on 7 eyes with congenital corneal opacity inherited by autosomal dominant type, and histopathologically confirmed. We checked preoperative visual acuity, potential visual acuity, intraocular pressure and corneal thickness. Then postoperatively visual acuity, intraocular pressure, corneal thickness and endothelial cell count was checked. RESULTS: After the 1 year follow up, all transplanted cornea survived and there were no rejection. Postoperative visual acuities all increased to potential acuity and the postoperative corneal thickness and endothelial cell count all maintained their normal levels. There was no recurrence of the disease at the 1 year follow up, however secondary glaucoma developed in 2 patients(27.5%), and they were treated by glaucoma surgery. CONCLUSION: The PKP performed on patients of congenital hereditary endothelial dystrophy occurred in one family tree, which has not yet been reported in korea, showed good postoperative results.

Primary Localized Orbital Amyloidosis

PURPOSE: Primary localized orbital amyloidosis is a very rare disease and it may deposit in the local area without any other previous disease. It may also form nodules in the cornea, conjunctiva, and eyelid. It may involve levator aponeurosis and extraocular muscles, and develops the various symptoms such as ptosis, opthalmoplegia and proptosis. We experienced this rare disease and report the case with a review of the literature. METHODS: A 54-year old woman who presented with ptosis, exophthalmos and conjunctival mass was diagnosed to have localized orbital amyloidosis by orbital CT and pathological review of conjunctival mass and orbital lesion. No systemic involvement was noted by systemic work up and we confirmed as primary localized orbital amyloidosis. RESULTS: It is a first case of primary localized orbital amyloidosis in Korea and should be differentiated with other diseases with similar symptoms as above.