Visual Outcome of Three Generations in a Turkish Family with Marfan Syndrome

• Published in: Journal of pediatric ophthalmology and strabismus Vol. 47; no. 6; pp. 373 - 378
• Main Author: Ugurbas, Silay Canturk
• Format: Journal Article
• Language: English
• Published: United States SLACK INCORPORATED 01.11.2010
• Subjects: Adolescent; Adult; Aged; Amblyopia - diagnosis; Axial Length, Eye - pathology; Child; Child, Preschool; Ectopia Lentis - genetics; Ectopia Lentis - physiopathology; Ectopia Lentis - surgery; Eyes & eyesight; Female; Humans; Male; Marfan Syndrome - genetics; Marfan Syndrome - physiopathology; Marfan Syndrome - surgery; Metabolic disorders; Middle Aged; Myopia; Older people; Pedigree; Postoperative Period; Treatment Outcome; Turkey; Vision Disorders - genetics; Vision Disorders - physiopathology; Vision Disorders - surgery; Visual Acuity - physiology; Young Adult; Turkey
• ISSN: 0191-3913; 1938-2405
• DOI: 10.3928/01913913-20100318-06

Purpose: The long-term outcome and postoperative visual acuity in a single family with ectopia lentis secondary to Marfan syndrome is presented. Methods: Thirteen family members, ages ranging from 3 to 47 years, were evaluated from 2006 to 2008. Ten members were found to have primary or secondary visual problems secondary to ectopia lentis. Results: Evaluation of 10 members with subluxated lenses in three generations showed that the leading cause of loss of vision (< 20/200) was amblyopia (n = 5), followed by surgical complications (n = 2) and retinal detachment (n = 1). Moderate amblyopia was observed in 8 additional eyes. Of those with long axial length (> 25 mm, n = 10), visual acuity ranged from 20/400 to 20/70 and no eyes tested better than 20/40. In eight eyes with an axial length of less than 25 mm, visual acuity ranged between counting fingers and 20/30. In this group, 50% had a visual outcome of 20/40 or better. Two eyes had no light perception and phthisis secondary to surgical complications. Of the 18 eyes in which axial length data were available, more eyes in the axial myopia group had unfavorable visual outcome (Evaluation of 10 members with subluxated lenses in three generations showed that the leading cause of loss of vision (< 20/200) was amblyopia (n = 5), followed by surgical complications (n = 2) and retinal detachment (n = 1). Moderate amblyopia was observed in 8 additional eyes. Of those with long axial length (> 25 mm, n = 10), visual acuity ranged from 20/400 to 20/70 and no eyes tested better than 20/40. In eight eyes with an axial length of less than 25 mm, visual acuity ranged between counting fingers and 20/30. In this group, 50% had a visual outcome of 20/40 or better. Two eyes had no light perception and phthisis secondary to surgical complications. Of the 18 eyes in which axial length data were available, more eyes in the axial myopia group had unfavorable visual outcome ( P = .04, Wilcoxon signed rank test). Conclusion: Amblyopia due to delayed surgical intervention was the leading cause of visual loss in three generations of this family. Axial high myopia was more frequent in deeply amblyopic family members.