Familial subepithelial corneal amyloidosis--a lactoferrin-related amyloidosis.

PURPOSE: To isolate the protein that collects in increased amounts beneath the corneal epithelium in familial subepithelial corneal amyloidosis (FSCA), also known as gelatinous droplike corneal dystrophy, and to identify it by N-terminal amino acid sequencing. METHODS: Peptides resulting from pepsin digestion of a unique protein isolated by sodium dodecyl sulfate-polyacrylamide gel electrophoresis from frozen tissue from two corneas with FSCA were purified by high-pressure liquid chromatography followed by protein sequence analysis. The protein was identified by amino acid sequencing, Western blotting, and immunohistochemistry. RESULTS: A protein was identified in two corneas with FSCA that was not present in normal corneas or in corneas with other disorders. The amino acid sequences of two peptides derived from this protein were identical to portions of lactoferrin. The unique protein reacted with rabbit antihuman lactoferrin after Western blotting. The presence of lactoferrin in the amyloid within affected corneas was confirmed using the immunoperoxidase method on formalin-fixed, paraffin-embedded tissue sections and lactoferrin antiserum. CONCLUSIONS: Corneal tissue with FSCA contains lactoferrin, and this is the first form of amyloidosis found to be associated with this protein. Because lactoferrin is a product of lacrimal glands, the corneal lactoferrin may be derived from the tears. Because the gene for lactoferrin is on chromosome 3 (3q21-q23), this locus is a potential site for the FSCA gene.

Toxocara canis endophthalmitis with low ELISA titer.

A five-year old boy had clinical findings consistent with ocular toxocariasis, blood eosinophilia, and repetitive negative (titer 1:2) ELISA. The eye was enucleated and larval fragments consistent with Toxocara were present within an eosinophilic granuloma in the vitreous cavity overlying a chorioretinal scar entrance site.

Pupillary block glaucoma following intraocular lens implantation.

Seven cases of pupillary block granuloma occurred in a series of 665 consecutive cases of cataract extraction with insertion of an iris supported intraocular lens, an overall incidence of 1%. The incidence with an iris plane lens was 1.7%, and for all other styles used the incidence was 0.3%. Common factors noted were iris plane intraocular lens and early postoperative complications predisposing to pupillary block. In four of the seven cases, there was a period of normal intraocular pressure followed by elevated intraocular tension with a deep central anterior chamber two weeks to fifteen months following cataract extraction, with subsequent development of corneal edema and typical shallowing of the anterior chamber with iris bombe. Five of seven cases ultimately regained control of intraocular pressure although extensive peripheral anterior synechia were present. No patient ultimately had a visual acuity better than 20/50.

Choroidal melanoma appearing as vitreous hemorrhage.

A 63-year-old woman had a spontaneous vitreous hemorrhage in her right eye that precluded adequate visualization of the posterior segment. Initial ultrasonic examination disclosed findings compatible with vitreous hemorrhage, hemorrhagic retinal detachment, and choroidal elevation. A second ultrasonic examination two months later showed findings compatible with choroidal melanoma, which was confirmed on histopathologic examination of the enucleated eye. Large vascular tumor channels, intratumor scar tissue, irregular tumor surface contour, and focal proliferation of retinal pigment epithelium confirmed the site of the hemorrhage, which had extended into the vitreous cavity.

Orbital granuloma in Hodgkin's disease.

A 44-year-old white man with nodular sclerosis type Hodgkin's disease proven by lymph node biopsy developed a diffuse subconjunctival anterior orbital mass that proved to be a noninfectious granuloma. An isolated granuloma in the orbit of a patient with Hodgkin's disease is unusual.

Conjunctival biopsy in unexplained hypercalcemia.

A 31-year-old woman presented with hypercalcemia, anemia, azotemia, and splenomegaly. Extensive laboratory studies failed to establish the diagnosis, though sarcoidosis seemed likely on the basis of marked hypercalciuria and restrictive lung disease. Conjunctival biopsy showed noncaseating epithelioid granulomas, confirming the clinical diagnosis. Conjunctival biopsy deserves consideration in the evaluation of the patient with unexplained hypercalcemia or other findings suggestive of saroidosis.

Nonfamilial anterior corneal dystrophy.

A 31-year-old woman with subepithelial corneal opacification and numerous clear round or oval areas of epithelial edema confined to the palpebral fissure underwent a penetrating keratoplasty. The clinical appearance was similar to that of a severe Meesmann or Stocker-Holt dystrophy. The prominent histopathologic features were thickening and excrescences of the epithelial basement membrane, intense basal cell edema, but no intraepithelial cysts. The basement membrane changes are compatible with those seen in Meesmann, Stocker-Holt, and map-dot-fingerprint dystrophy, but the lack of intraepithelial cysts is not characteristic of these dystrophies. This case represents a variant of the known anterior corneal dystrophies which have an overproduction of epithelial basement membrane.

Metastatic adenocarcinoma to the anterior uvea and elevated CEA levels.

A 47-year-old man developed chronic unilateral iridocyclitis with secondary glaucoma, and elevated plasma CEA levels. The eye was enucleated seven months later, and histopathologic examination revealed a metastatic mucin producing CEA positive adenocarcinoma. The patient died one year after the initial onset of symptoms. The primary site of the tumor was not proven, but most likely was the gastrointestinal tract.

Undifferentiated lymphosarcoma of the orbit resembling Burkitt's lymphoma.

A 3-year-old boy was admitted with an orbital apex syndrome that histologically was proven to be an undifferentiated lymphosarcoma. He subsequently developed systemic multifocal extranodal involvement and died eight months later. Clinical findings were consistent with those seen in Burkitt's lymphoma. Some, but not all, of the cytologic findings were characteristic of Burkitt's lymphoma.

Chronic fibrous tenonitis with vitreous hemorrhage and choroidal indentation.

A 45-year-old white man had a bulbar subconjunctival mass, eyelid edema, and choroidal indentation. Biopsy of the subconjunctival mass revealed acute and chronic inflammation. One year later a spontaneous vitreous hemorrhage, choroidal folds, increased choroidal indentation, and serous retinal detachment were present. B-mode ultrasonography, operative findings, and biopsy revealed a chronic inflammatory mass with fibrosis confined to Tenon's capsule. Initial treatment with systemic corticosteroids resulted in no improvement, but mild progression occurred when the corticosteroids were tapered. Improvement occurred to the previous level of involvement when corticosteroids were reinstituted.

Metastatic adenocarcinoma to the anterior uvea and increased carcinoembryonic antigen levels.

A 47-year old man developed chronic unilateral iridocyclitis with secondary glaucoma, and increased plasma carcinoembryonic antigen levels. The eye was enucleated seven months later, and histopathologic examination revealed a metastatic mucin-producing carcinoembryonic antigen-positive adenocarcinoma. The patient died one year after the initial onset of symptoms. The primary site of the tumor was not proven, but most likely was the gastrointestinal tract.

Experimental hyphema clearance in rabbits. Drug trials with 1% atropine and 2% and 4% pilocarpine.

The effect of topical 1% atropine sulfate, 2% pilocarpine hydrochloride, and 4% pilocarpine hydrochloride on the clearance rate of RBCs labeled with chromium 51 (51Cr) that were injected into the anterior chamber of rabbits was determined by monitoring sequential radioactivity counts. Counts were made directly over the anterior chamber. One eye of each animal was treated with either 1% atropine, 2% pilocarpine, or 4% pilocarpine, and the other eye served as a control. None of these drugs significantly altered the clearance rate of 51Cr-labeled RBCs injected into the anterior chamber.

Effect of changes in Pco2 on intraocular tension.

Elevated levels of inspired CO2 and blood Pco2 resulted in moderate elevation of IOT. A marked rapid decrease in IOT to a level less than baseline value was noted when inspired CO2 was suddenly decreased to ambient levels. Decrease in IOT was more pronounced than the decrease in Pco2 and increase in blood pH. Changes in IOT appeared related to the rate of change of Pco2 rather than the actual level of Pco2. Increased ventilatory excursions with constant inspired CO2 levels did not cause any elevation of IOT, but a minimal compensatory drop in IOT below resting values occurred when increased ventilatory excursions were discontinued. It is postulated that the changes in IOT noted are the result of sudden changes in aqueous production or ocular blood volume.

Lash excision in trichiasis.

A simple technique for lash excision in the surgical management of trichiasis is described. Of 13 patients treated with this technique, 11 had complete relief of symptoms and 2 had significant improvement in symptoms with the remaining symptoms attributable to other manifestations of their underlying disease. There were no complications in any of the cases from the surgical procedure itself. This procedure is quickly and easily performed and has been found to be particularly useful in elderly and debilitated patients, and in those patients whose trichiasis is associated with conjunctival scarring.

Adenoid cystic carcinoma of the antrum and epiphora.

Tearing was the initial symptom in two patients who subsequently developed a mass over the anterior lacrimal crest area caused by adenoid cystic carcinoma of the antrum. In a 76-year-old woman, a paranasal sinus X-ray film revealed an antral mass, and the histopathologic diagnosis was made by incisional biopsy. She refused further examination and treatment. In a 62-year-old woman, a paranasal sinus X-ray film and computed axial tomography examination revealed an antral mass. Epiphora caused by obstruction of the nasolacrimal sac was shown by dacryocystography. Bony destruction of the medial orbital floor was shown by paranasal sinus X-ray film, and confirmed at the time of initial biopsy. Orbital exenteration and radical maxillectomy and ethmoidectomy were performed, and the histopathologic diagnosis and primary site of the tumor were confirmed. There was no recurrence 24 months postoperatively.

Exudative retinal detachment and scleritis in polyarteritis.

A 64-year-old white man, treated with systemic corticosteroids for five years, developed polyarteritis. He then developed a severe scleritis with an exudative retinal detachment in the right eye, which became blind and painful and was enucleated 23 months after onset of the scleritis. Histopathologic examination of the enucleated eye revealed granulomatous scleritis, chronic nongranulomatous uveitis, exudative retinal detachment, and perivasculitis of intrascleral, iris, ciliary body, and retinal blood vessels. Systemic findings were minimal and limited to elevated sedimentation rate, weight loss, mild anemia, and microscopic hematuria. Respiratory disease, severe kidney disease, hypertension, and arthritis were notably absent. A muscle biopsy established the diagnosis.

Perforating ocular shotgun injuries: relationship of ocular findings to pellet ballistics.

A retrospective study of 20 cases of perforating ocular injuries due to shotgun pellets revealed visual acuity of hand motions or worse in 85%. Massive persistent vitreous hemorrhage was present in 75%. Double perforation of the globe was present in 60% of the involved eyes. Product safety measures are recommended.

Primary familial amyloidosis of the cornea.

A case of primary familial amyloidosis of the cornea in a 13-year-old boy was confirmed by histopathologic examination of material obtained by penetrating keratoplasty. Elevated subepithelial nodules of amyloid were present centrally. Extensive nonelevated subepithelial amyloid deposition was present in areas where either clinically gray, nonelevated subepithelial opacities or apparently normal cornea was present. Nonelevated subepithelial corneal deposits clinically similar to amyloid deposits in the proband were present in two siblings. The genetic pattern of the corneal amyloid deposits in this family appears to be autosomal recessive. Cataracts were present in two of the three affected members. Aspirated lens material from two of the affected members did not contain amyloid.