Details

Autor(en) / Beteiligte

• Othman, M.I.
• Sullivan, S.A.
• Skuta, G.L.
• Cockrell, D.A.
• Stringham, H.M.
• Downs, C.A.
• Fornés, A.
• Mick, A.
• Boehnke, M.
• Vollrath, D.
• Richards, J.E.

Titel

Autosomal Dominant Nanophthalmos ( NNO1) with High Hyperopia and Angle-Closure Glaucoma Maps to Chromosome 11

Ist Teil von

• American journal of human genetics, 1998-11, Vol.63 (5), p.1411-1418

Ort / Verlag

Chicago, IL: Elsevier Inc

Erscheinungsjahr

1998

Quelle

MEDLINE

Beschreibungen/Notizen

• Nanophthalmos is an uncommon developmental ocular disorder characterized by a small eye, as indicated by short axial length, high hyperopia (severe farsightedness), high lens/eye volume ratio, and a high incidence of angle-closure glaucoma. We performed clinical and genetic evaluations of members of a large family in which nanophthalmos is transmitted in an autosomal dominant manner. Ocular examinations of 22 affected family members revealed high hyperopia (range +7.25–+13.00 diopters; mean +9.88 diopters) and short axial length (range 17.55–19.28 mm; mean 18.13 mm). Twelve affected family members had angle-closure glaucoma or occludable anterior-chamber angles. Linkage analysis of a genome scan demonstrated highly significant evidence that nanophthalmos in this family is the result of a defect in a previously unidentified locus ( NNO1) on chromosome 11. The gene was localized to a 14.7-cM interval between D11S905 and D11S987, with a maximum LOD score of 5.92 at a recombination fraction of .00 for marker D11S903 and a multipoint maximum LOD score of 6.31 for marker D11S1313. NNO1 is the first human locus associated with nanophthalmos or with an angle-closure glaucoma phenotype, and the identification of the NNO1 locus is the first step toward the cloning of the gene. A cloned copy of the gene will enable examination of the relationship, if any, between nanophthalmos and less severe forms of hyperopia and between nanophthalmos and other conditions in which angle-closure glaucoma is a feature.