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- Title
Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations.
- Authors
Edwards, Thomas L; Burt, Benjamin O; Black, Graeme CM; Perveen, Rahat; Kearns, Lisa S; Staffieri, Sandra E; Toomes, Carmel; Buttery, Robert G; Mackey, David A
- Abstract
A bstract Background: To characterize the clinical and genetic abnormalities within two Australian pedigrees with high incidences of retinal detachment and visual disability. Design: Prospective review of two extended Australian pedigrees with high rates of retinal detachment. Participants: Twenty-two family members from two extended Australian pedigrees with high rates of retinal detachment were examined. Methods: A full ophthalmic history and examination were performed, and DNA was analysed by linkage analysis and mutation screening. Main Outcome Measures: Characterization of a causative hereditary gene mutation in each family. Results: All affected family members of one pedigree carried a C192A COL2A1 exon 2 mutation. None of the affected family members had early-onset arthritis, hearing abnormalities, abnormal clefting or facial features characteristic of classical Stickler syndrome. All affected members of the familial exudative vitreoretinopathy pedigree carried a 957delG FZD4 mutation. Conclusions: Patients with retinal detachment and a positive family history should be investigated for heritable conditions associated with retinal detachment such as Stickler syndrome and familial exudative vitreoretinopathy. The absence of non-ocular features of Stickler syndrome should raise the possibility of mutations in exon 2 of COL2A1. Similarly, late-onset familial exudative vitreoretinopathy may appear more like a rhegmatogenous detachment and not be correctly diagnosed. When a causative gene mutation is identified, cascade genetic screening of the family will facilitate genetic counselling and screening of high-risk relatives, allowing targeted management of the pre-detachment changes in affected patients.
- Subjects
RETINAL detachment; RETINAL diseases; DNA analysis; OPHTHALMOLOGY; GENETIC disorders; STICKLER syndrome; GENETICS
- Publication
Clinical & Experimental Ophthalmology, 2012, Vol 40, Issue 5, p476
- ISSN
1442-6404
- Publication type
Article
- DOI
10.1111/j.1442-9071.2012.02804.x