pseudoexfoliation syndrome in a patient with lattice corneal dystrophy

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International Ophthalmology 22: 195–196, 1999. © 1999 Kluwer Academic Publishers. Printed in the Netherlands. 195 Pseudoexfoliation syndrome in a patient with lattice corneal dystrophy Gianluca Scuderi 1 , Carlo Nucci 1 & Maria Tomei 2 1 Physiopathological Optics, University of Rome ‘Tor Vergata’; 2 Institute of Ophthalmology, University of Rome ‘La Sapienza’ Accepted 13 April 1999 Key words: lattice corneal dystrophy, pseudoexfoliation syndrome, amyloidosis, glaucoma Abstract We report the case of a 70-year-old female who presents lattice corneal dystrophy type I in association with pseudoexfoliation syndrome. This association has never been reported in patients not affected by systemic amyloidosis. Lattice corneal dystrophy is an autosomal dominant condition characterized by pathognomonic branching ‘pipestem’ lattice figures in the subepithelium and/or superficial stroma of the cornea. The dystrophy begins at the end of the first decade, but symptoms, which include decreased vision and recurrent episodes of corneal erosion, may not appear until middle age [1]. Various histochemical staining techniques, transmis- sion electron microscopy and fluorescence microscopy have documented subepithelial and stromal depos- its of amyloid in these patients [1, 2], and lattice corneal dystrophy is sometimes associated with sys- temic amyloidosis [3, 4]. In these cases, clinical corneal changes usually occur later and erosive epis- odes are less common. Microscopically the lattice lines are fewer and more radially oriented. Involve- ment is also limited primarily to the corneal periphery. Systemic manifestations include progressive cranial and peripheral neuropathy, visceral involvement and skin changes, such as lichen or cutis laxa, and in some cases, polycythemia vera and ventricular hypertrophy [3, 4]. We report a case of lattice corneal dystrophy associated with pseudoexfoliation syndrome, in which there were no signs of systemic amyloidosis. Case report A 70-year-old woman was referred to our out-patient clinic for decreased visual acuity. Since the age of 20 the patient had experienced recurrent episodes of ocular inflammation with acute pain, redness and the sensation of a foreign body in the eye, each followed by an asymptomatic interval of several years. At age 31 she had been hospitalized for a month for a partic- ularly severe episode of this type, but there had been no inflammation for the past four years. The skin of the forehead and upper palpebrae were normal, and facial nerve function was unimpaired. Corrected visual acuity was 0.6 bilaterally. Intraocular pressures were 18 mmHg on the right and 17 mmHg on the left. Slit-lamp examination of the cornea revealed very fine lattice lines in the superficial and mid-stroma of both eyes. Their directions were extremely divergent and many were branched. No opacities were noted (Fig- ure 1). Corneal sensation and thickness were normal. Slit-lamp microscopy disclosed exfoliative material in the central and peripheral lens and at the pupil- lary margin, which was consistent with a diagnosis of pseudoexfoliation syndrome. The clinical diagnosis was confirmed by a conjunctival biopsy of both eyes. The posterior surface of the cornea was moderately pigmented. No vitreal or retinal changes were noted. Her parents had reportedly had normal vision, and ophthalmologic examination of her sister and 45-year- old daughter revealed no corneal alterations. Complete medical, neurologic and dermatologic workups failed to reveal any sign of systemic amyloidosis. She was diagnosed with lattice corneal dystrophy type 1.

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Page 1: Pseudoexfoliation Syndrome in a Patient with Lattice Corneal Dystrophy

International Ophthalmology22: 195–196, 1999.© 1999Kluwer Academic Publishers. Printed in the Netherlands.

195

Pseudoexfoliation syndrome in a patient with lattice corneal dystrophy

Gianluca Scuderi1, Carlo Nucci1 & Maria Tomei21Physiopathological Optics, University of Rome ‘Tor Vergata’;2Institute of Ophthalmology, University of Rome‘La Sapienza’

Accepted 13 April 1999

Key words:lattice corneal dystrophy, pseudoexfoliation syndrome, amyloidosis, glaucoma

Abstract

We report the case of a 70-year-old female who presents lattice corneal dystrophy type I in association withpseudoexfoliation syndrome. This association has never been reported in patients not affected by systemicamyloidosis.

Lattice corneal dystrophy is an autosomal dominantcondition characterized by pathognomonic branching‘pipestem’ lattice figures in the subepithelium and/orsuperficial stroma of the cornea. The dystrophy beginsat the end of the first decade, but symptoms, whichinclude decreased vision and recurrent episodes ofcorneal erosion, may not appear until middle age [1].Various histochemical staining techniques, transmis-sion electron microscopy and fluorescence microscopyhave documented subepithelial and stromal depos-its of amyloid in these patients [1, 2], and latticecorneal dystrophy is sometimes associated with sys-temic amyloidosis [3, 4]. In these cases, clinicalcorneal changes usually occur later and erosive epis-odes are less common. Microscopically the latticelines are fewer and more radially oriented. Involve-ment is also limited primarily to the corneal periphery.Systemic manifestations include progressive cranialand peripheral neuropathy, visceral involvement andskin changes, such as lichen or cutis laxa, and in somecases, polycythemia vera and ventricular hypertrophy[3, 4]. We report a case of lattice corneal dystrophyassociated with pseudoexfoliation syndrome, in whichthere were no signs of systemic amyloidosis.

Case report

A 70-year-old woman was referred to our out-patientclinic for decreased visual acuity. Since the age of

20 the patient had experienced recurrent episodes ofocular inflammation with acute pain, redness and thesensation of a foreign body in the eye, each followedby an asymptomatic interval of several years. At age31 she had been hospitalized for a month for a partic-ularly severe episode of this type, but there had beenno inflammation for the past four years. The skin ofthe forehead and upper palpebrae were normal, andfacial nerve function was unimpaired. Corrected visualacuity was 0.6 bilaterally. Intraocular pressures were18 mmHg on the right and 17 mmHg on the left.Slit-lamp examination of the cornea revealed very finelattice lines in the superficial and mid-stroma of botheyes. Their directions were extremely divergent andmany were branched. No opacities were noted (Fig-ure 1). Corneal sensation and thickness were normal.Slit-lamp microscopy disclosed exfoliative materialin the central and peripheral lens and at the pupil-lary margin, which was consistent with a diagnosisof pseudoexfoliation syndrome. The clinical diagnosiswas confirmed by a conjunctival biopsy of both eyes.The posterior surface of the cornea was moderatelypigmented. No vitreal or retinal changes were noted.Her parents had reportedly had normal vision, andophthalmologic examination of her sister and 45-year-old daughter revealed no corneal alterations. Completemedical, neurologic and dermatologic workups failedto reveal any sign of systemic amyloidosis. She wasdiagnosed with lattice corneal dystrophy type 1.

Page 2: Pseudoexfoliation Syndrome in a Patient with Lattice Corneal Dystrophy

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Figure 1. Slit-lamp photography demonstrating pathognomonicbranching lattice lines throughout the Bowman’s lamella and an-terior stroma layers.

Discussion

Pseudoexfoliation syndrome is characterized clinic-ally by small, grayish deposits of fibrillar-granularexfoliation material within the anterior segment of theeye. They are most commonly seen at the pupillarymargin and in the anterior lens capsule and less fre-quently on the cornea, trabecular meshwork, zonulesand ciliary body [5]. The nature of this material hasyet to be defined, but various enzymatic, histochemicaland immunological studies indicate that the fibrils andfilaments are composed of non-collagenous proteins.Histochemical and antigenic similarities between thismaterial and zonular elastic microfibrils has led someto suggest that the exfoliation syndrome may be aform of elastosis [5]. However, the material also hasmany of the staining and histochemical characteristicsof amyloid, i.e., positivity for Congo red, thioflavins Tand S, reactivity with tyrosine and tryptophan [5–7].

In addition, several amyloidosis patients have beenfound to have deposits on the lens-capsule equator andthe surface of the iris that are reminiscent of exfoliativedeposits [8]. Meretoja described six patients with fa-milial systemic amyloidosis, lattice corneal dystrophyand pseudoexfoliation syndrome [8]. Since it is wellknown that lattice corneal dystrophy is due to thedeposition of amyloid within the corneal epitheliumand stroma [1], this author suggested that there are two

types of pseudoexfoliation, one associated with sys-temic manifestations of amyloidosis (including latticedystrophy) and another in which amyloid deposits areconfined to the lens, pupil and trabecular meshwork[8].

Although there was no evidence of systemic amyl-oidosis in our patient, the presence of the pseudo-exfoliation syndrome together with lattice cornealdystrophy confirms the association between this syn-drome and clinical manifestations of amyloid accu-mulation. It is also possible that there were amyloiddeposits in other parts of the eye involved in theexfoliative process. Skin biopsy was not performedsince there were no elements in the history or clin-ical findings that would suggest systemic amyloidosis.In addition the clinical ophthalmologic findings werecharacteristic of type I lattice corneal dystrophy, whichis not associated with systemic amyloidosis.

References

1. Starck T, Hersh PS, Kenyon KR. Corneal dysgeneses, dys-trophies, and degenerations. In: Albert DM and Jakobiec FA(eds.) Principles and practice in ophthalmology, vol 1. Phil-adelphia: W.B. Saunders, 1994: 36–40.

2. Bowen RA, Hassard DT, Wong VG, DeLellis RA, Glenner GG.Lattice dystrophy of the cornea as a variety of amyloidosis. AmJ Ophthalmol 1970; 70: 822–25.

3. Meretoja J. Familiar systemic paramyloidosis with lattice dys-trophy of the cornea, progressive cranial neuropathy, skinchanges and various internal symptoms. A previously unrecog-nized heritable syndrome. Ann Clin Res 1969; 1: 314–24.

4. Meretoja J. Comparative histopathological and clinical findingsin eyes with lattice corneal dystrophy of two different types.Ophthalmologica 1972; 165: 15–37.

5. Ritch R, Liebmann J. Exfoliation syndrome. In: Podos SM andYanoff M (eds.) Glaucoma, St Louis: CV Mosby, 1994; 8: 48–55.

6. Ringvold A, Husby G. Pseudo-exfoliation material: anamyloid-like substance. Exp Eye Res 1973: 17; 289–93.

7. Dickson DH, Ramsey MS. Symposium on pseudocapsular ex-foliation and glaucoma: fibrillopathia epitaliocapsularis: reviewof the nature and origin of pseudoexfoliative deposits. TransOphthalmol Soc UK 1979: 99; 284–95.

8. Meretoja J, Tarkkanen A. Pseudoexfoliation syndrome infamiliar systemic amyloidosis with lattice corneal dystrophy.Ophthalmic Res 1975: 7; 194–20.

Address for correspondence:C. Nucci, Cattedra di Ottica Fisiop-atologica, Università di Roma ‘Tor Vergata’, Via O. Raimondo,00173 Rome, ItalyPhone/Fax: 0039 6 2026232