Froehlich S. J., Kalpadakis P., Rudolph G., Boergen K.-P.

Department of Ophthalmology, Ludwig-Maximilians-Universität, Munich, Germany

Introduction: Nail-patella syndrome (NPS) is an autosomal-dominant hereditary systemic disease. The underlying defect of gene LMX1B is localized on chromosome 9 and causes various typical clinical signs such as onychodysplasia, patellahypoplasia and renal involvement. Furthermore, previous published reports describe structural alterations of iris and ciliar body causing open angle glaucoma.
Methods: A 42-years-old mother and her 4-years-old unique son were seen in our hospital in order to exclude ocular involvement in a moleculargenetically confirmed NPS. We performed a complete ophthalmological examination including measurement of intraocular pressure and bulbus length as well as corneal topography and gonioscopy.
Results: The examination of both patients showed NPS-specific symptoms like onychodysplasia and patellahypoplasia. The mother had open angle glaucoma with an IOP between 24 and 26 mm Hg lacking any peripheral scotoma. The boy revealed no indications to glaucoma, but suffered from moderate bilateral hyperopia and a marked amblyopia at the left eye caused by excessive astigmatism (+8,5 sph., -4,0 cyl./10°; visual acuity 20/100) compared to the right eye (+6,0 sph., -1,75 cyl./170°; visual acuity 20/30).
Discussion: Because of the cosegregation between NPS and open angle glaucoma, NPS-patients should undergo regular ophthalmological controls including measurement of intraocular pressure. Experiments on mice have shown, that mutations of the LMX1B-gene result in alterations of several structures of the anterior segments of the eye. Also the cornea could be involved in this process. Therefore, the described refraction abnormality could be the consequence of structural changes at the corneal level due to nail-patella syndrome.

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