PURPOSE: To describe and analyze the oculometric features of small eyes with high hypermetropia in two Faroese families, with emphasis on refractive components. METHODS: Members of the two families (N=40; age, 1 to 77 years), including 15 cases of extreme hypermetropia (+7.5 to +19.25 D), had an ophthalmic evaluation including refractometry, keratometry, and axial ocular measurements using A-scan ultrasound. Eye-wall thickness was assessed using B-scan. Nonparametric statistics were used, mainly the Mann-Whitney U test. RESULTS: In the two families, there were six and nine probands, respectively, with hypermetropia more than +7 D and short eyes as defined by axial eye lengths <21 mm. The median corrected visual acuity was 0.4 (range, 0.2 to 0.9). Gross fundus abnormalities were not observed. All 15 had a short posterior segment with a thick eye wall and a relatively thick lens. Furthermore, steep and rather small corneas were present. In one of the families, 70% of the affected had a corneal curvature radius of < or =7.0 mm. Five probands from family 2 were labeled as possibly affected because of hypermetropia and borderline axial length findings (21 to 22 mm). The remaining 20 subjects had visual acuity and oculometric findings within physiologic limits. CONCLUSIONS: The axial measurement features in our series of highly hypermetropic eyes mainly presented as an extension downward from the hypermetropic bottom line of the normal distribution. The axial shortness of the eyes was primarily the result of a short posterior eye segment ("posterior microphthalmos"). A steep cornea was a feature in most small eyes in our series, particularly in one family branch.
PURPOSE: To describe and analyze the oculometric features of small eyes with high hypermetropia in two Faroese families, with emphasis on refractive components. METHODS: Members of the two families (N=40; age, 1 to 77 years), including 15 cases of extreme hypermetropia (+7.5 to +19.25 D), had an ophthalmic evaluation including refractometry, keratometry, and axial ocular measurements using A-scan ultrasound. Eye-wall thickness was assessed using B-scan. Nonparametric statistics were used, mainly the Mann-Whitney U test. RESULTS: In the two families, there were six and nine probands, respectively, with hypermetropia more than +7 D and short eyes as defined by axial eye lengths <21 mm. The median corrected visual acuity was 0.4 (range, 0.2 to 0.9). Gross fundus abnormalities were not observed. All 15 had a short posterior segment with a thick eye wall and a relatively thick lens. Furthermore, steep and rather small corneas were present. In one of the families, 70% of the affected had a corneal curvature radius of < or =7.0 mm. Five probands from family 2 were labeled as possibly affected because of hypermetropia and borderline axial length findings (21 to 22 mm). The remaining 20 subjects had visual acuity and oculometric findings within physiologic limits. CONCLUSIONS: The axial measurement features in our series of highly hypermetropic eyes mainly presented as an extension downward from the hypermetropic bottom line of the normal distribution. The axial shortness of the eyes was primarily the result of a short posterior eye segment ("posterior microphthalmos"). A steep cornea was a feature in most small eyes in our series, particularly in one family branch.
Authors: Olof H Sundin; Gregory S Leppert; Eduardo D Silva; Jun-Ming Yang; Sharola Dharmaraj; Irene H Maumenee; Luisa Coutinho Santos; Cameron F Parsa; Elias I Traboulsi; Karl W Broman; Cathy Dibernardo; Janet S Sunness; Jeffrey Toy; Ethan M Weinberg Journal: Proc Natl Acad Sci U S A Date: 2005-06-23 Impact factor: 11.205
Authors: Andreas Gal; Isabella Rau; Leila El Matri; Hans-Jürgen Kreienkamp; Susanne Fehr; Karim Baklouti; Ibtissem Chouchane; Yun Li; Monika Rehbein; Josefine Fuchs; Hans C Fledelius; Kaj Vilhelmsen; Daniel F Schorderet; Francis L Munier; Elsebet Ostergaard; Debra A Thompson; Thomas Rosenberg Journal: Am J Hum Genet Date: 2011-03-11 Impact factor: 11.025