ABSTRACT
Stickler syndrome is a genetically heterogeneous disorder that affects the ocular, auditory, and musculoskeletal systems. Ocular-only variant of Stickler syndrome type 1 (OSTL1) is characterized by high risk of retinal detachment without systemic involvement and is caused by alternatively spliced exon 2 mutation of COL2A1. We report the cases of two Korean families with OSTL1 carrying likely pathogenic variants of COL2A1. All patients presented with membranous vitreous anomaly, peripheral retinal degeneration, and/or rhegmatogenous retinal detachment, but no systemic manifestations. By genetic analysis, two likely pathogenic non-exon 2 variants, c.2678dupC (p.Ala895Serfs*49) and c.3327+ 1G>C, were identified in COL2A1. Our results demonstrate that COL2A1 defects in OSTL1 are not confined to mutations in exon 2. Together with molecular data, ophthalmologists should consider genetic diagnosis of Stickler syndrome in patients with vitreous anomaly to prevent blindness from retinal detachment. To our knowledge, this is the first report of genetically confirmed OSTL1 in Korea.
Subject(s)
Adult , Female , Humans , Male , Middle Aged , Arthritis/genetics , Asian People/genetics , Base Sequence , Collagen Type II/genetics , Connective Tissue Diseases/genetics , DNA Mutational Analysis , Exons , Hearing Loss, Sensorineural/genetics , Republic of Korea , Retinal Detachment/genetics , Visual AcuityABSTRACT
PURPOSE: To report the predisposing factors and surgical outcomes of intraocular lens dislocation (IOL) after phacoemulsification. METHODS: We performed a retrospective study of 131 eyes in 120 patients who were diagnosed with IOL dislocation after phacoemulsification between January 2008 and December 2013. The main outcomes are possible predisposing factors, characteristics of IOL dislocation, and outcomes of rectification surgery, including visual acuity (VA), and refractive status before and at 3 months after surgery. RESULTS: The main conditions associated with IOL dislocation were as follows: status after vitrectomy (27.5%), long axial length (9.2%), neodymium-doped yttrium aluminium garnet (Nd:YAG) posterior capsulotomy (8.4%), uveitis (6.1%), trauma (5.3%), mature cataract (3.8%), and pseudoexfoliation (2.3%). Mean uncorrected VA improved significantly after rectification surgery (p = 0.00), and best-corrected VA also improved significantly (p = 0.01). Mean value of spherical equivalent tended to decrease, although the decrease was not significant (p = 0.07). Whereas astigmatism showed a significant increase (p = 0.01). 6 eyes (4.6%) were associated with recurrence of IOL dislocation. CONCLUSIONS: Possible major predisposing factors for IOL dislocation are status after vitrectomy, long axial length, Nd:YAG posterior capsulotomy, uveitis, and trauma. The surgical outcome and improvement of postoperative visual acuity were satisfactory.
Subject(s)
Humans , Astigmatism , Cataract , Causality , Joint Dislocations , Lenses, Intraocular , Phacoemulsification , Posterior Capsulotomy , Recurrence , Retrospective Studies , Uveitis , Visual Acuity , Vitrectomy , YttriumABSTRACT
No abstract available.
Subject(s)
Humans , Male , Middle Aged , Choroid/pathology , Ophthalmia, Sympathetic/etiology , Retina/pathology , Retinal Detachment/surgery , Vitrectomy/adverse effectsABSTRACT
No abstract available.