Ocular manifestations in xeroderma pigmentosum

• Published in: Klinische Monatsblatter fur Augenheilkunde Vol. 228; no. 3; p. 239
• Main Authors: Süsskind, D, Berneburg, M, Rohrbach, J M
• Format: Journal Article
• Language: German
• Published: Germany 01-03-2011
• Subjects: Adolescent; Adult; Aged; Child; Child, Preschool; Cockayne Syndrome - diagnosis; Eye Diseases - diagnosis; Female; Humans; Male; Middle Aged; Xeroderma Pigmentosum - diagnosis; Young Adult
• ISSN: 1439-3999
• DOI: 10.1055/s-0029-1245274

The aim of this study was to evaluate ocular changes in patients with xeroderma pigmentosum (XP) and Cockayne syndrome (CS). Both diseases belong to the progeroid syndromes caused by single gene mutations with premature aging. Both syndromes are very rare autosomal recessive diseases caused by a gene defect leading to deficient DNA repair.
12 patients (4 female, 8 male) with XP between 3 and 67 years old and a 39-year-old female patient with CS were examined. The examination included visual acuity testing, slit lamp biomicroscopy, funduscopy and performance of a Schirmer test.
Changes of the lids in the XP group included blepharitis in 7 patients, distichiasis in 2, and madarosis in 3 patients. 8 patients had multiple lentigines solares of the lids. One patient showed scars of the lower lids after excision of a squamous cell carcinoma and a basal cell carcinoma. Conjunctival lesions comprised a tumour of unknown origin of the conjunctiva in 1 patient, teleangiectasia of the conjunctiva in 5 patients, pterygia in 4, and pinguecula in 1 patient. Two patients had an intraepithelial melanosis of the conjunctiva, and one showed conjunctival nevi. Two patients had corneal scars and corneal vascularisation, another a significant conjunctivalisation of the cornea. A Schirmer test was feasible only in 3 patients. Tear production was markedly reduced in all these patients. Break-up time was shortened significantly in 6 patients examined. The patient with the CS showed atrophy of the pupillary rim and a subcapsular cataract. Funduscopically there were pigment epithelial changes.
Patients with XP often exhibit ocular changes. Beside the light-dependent degenerative and inflammatory manifestations at the lids, the conjunctiva and the cornea patients with XP also develop malignancies early in life. The majority of patients suffer from dry eye symptoms.