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AbstractP 200 Ocular manifestations in patients with Xeroderma pigmentosum and Cockayne syndrome Süsskind D.1, Berneburg M.-J.2, Hoesl M.2, Rohrbach J. M.1
1Center for Ophthalmology, 2Department for Dermatology, Eberhard Karls University Tuebingen Objective: 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 rare autosomal recessive diseases caused by a gene defect leading to a deficient nucleotide excision repair.
Methods: 6 patients (3 women, 3 men) with XP between 3 and 67 years old and a 39 years old patient with CS were examined. The examination included visual acuity testing, slit lamp biomicroscopy, funduscopy and performance of a Schirmer test.
Results: 5 patients with XP had a visual acuity of 20/20 on both eyes, 1 patient had a visual acuity of 20/32 on both eyes. Changes of the lids included blepharitis in 3 patients, distichiasis and madarosis in 2 patients, respectively. 1 patient showed scars of the lower lids after excision of a squamous cell carcinoma and a basalioma. Conjunctival lesions comprised tumors of the conjunctiva in 1 patient, teleangiectasia of the conjunctiva in 2 patients and pterygia and pinguecula in 1 patient. A Schirmer test was available only in 3 patients. Tear production was markedly reduced in all these patients. The patient with the CS had a visual acuity of 20/80 on her right eye and 20/200 on the left eye. The anterior segment showed atrophy of the pupillary rim and a subcapsular cataract. Funduscopically there were pigment epithelial changes.
Conclusions: Patients with XP and CS may also have ocular changes. Beside degenerative manifestations at the lids and the conjunctiva patients with XP also develop malignancies early in life. The majority of patients has dry eye symptoms. Patients with CS predominantly show retinal degeneration.
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