97th DOG Annual Meeting 1999
GLN368STOP-MUTATION OF THE GLC1A-GENE IN A FAMILY WITH HEALTHY CARRIERS AND NORMAL TENSION GLAUCOMA
C. Y. Mardin1, K. Michels-Rautestrauss2, S. Oezbey2, C. Cursiefen1,
M. Wisse1, B. Rautenstrauss2
The aim of this study is to report a family with healthy carriers and one normal-tension open-angle glaucoma (NTG) patient with Gln368Stop.
Patients and Methods: Mutation screening of over 600 glaucoma patients and clinical investigation by measurement of intraocular pressure, visual field testing, gonioscopy and inspection of the optic nerve head for glaucoma revealed one NTG patient of the focal ischaemic type with a Gln368Stop mutation with no known family history for glaucoma. 19 family members in three generations of this patient were investigated by SSCP analysis and subsequent sequencing analysis in three generations.
Results: Five healthy carriers (age 59.6±17 years) were identified. The nine year old son of the index patient was also a carrier, but still too young for the expected age of manifestation of glaucoma.
Discussion: As different groups reported this Gln368Stop mutation also in several healthy individuals, it seems according to our results to be unlikely, that this mutation has a pathogenic effect in a direct manner. Hence the glaucoma pathogenesis associated with GLC1A-gene mutations might be more complex than expected and still unknown suppressor mechanisms have to be considered.
Augenklinik mit Poliklinik1, Institut für Humangenetik2,
Friedrich-Alexander-Universität Erlangen-Nürnberg, Schwabachanlage, 91054 Erlangen. Unterstützt durch SFB 539 und Marohn-Stiftung