Visual outcome of three generations in a Turkish family with Marfan syndrome.
OBJECTIVE
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 (P = .04, Wilcoxon signed rank test).


CONCLUSIONS
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.
Ugurbas
Silay Canturk
SC
University School of Medicine, Department of Ophthalmology, Adana Clinic and Research Center, Adana, Turkey. silaycanturk@gmail.com
D000293:Adolescent; D000328:Adult; D000368:Aged; D000550:Amblyopia / Q000175:diagnosis; D058452:Axial Length, Eye / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004479:Ectopia Lentis / Q000235:genetics / Q000503:physiopathology / Q000601:surgery*; D005260:Female; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics / Q000503:physiopathology / Q000601:surgery*; D008875:Middle Aged; D010375:Pedigree; D011184:Postoperative Period; D016896:Treatment Outcome; D014421:Turkey; D014786:Vision Disorders / Q000235:genetics / Q000503:physiopathology / Q000601:surgery*; D014792:Visual Acuity / Q000502:physiology*; D055815:Young Adult