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S.L. Go, T. Theelen, M.A. Tilanus, B.J. Klevering, A.F. Deutman, F.P. Cremers, C.B. Hoyng; Phenotype and Surgical Outcome in Autosomal Dominant Rhegmatogenous Retinal Detachments . Invest. Ophthalmol. Vis. Sci. 2003;44(13):2989.
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Purpose: To investigate the clinical presentation and surgical outcome of patients with autosomal dominant rhegmatogenous retinal detachment (RRD) Methods: Fifteen patients from two families (11 eyes of 8 patients from family A and 9 eyes of 7 patients from family B) with adRRD without systemic abnormalities but with earlier proven linkage to the COL2A1 gene were retrospectively examined. Special attention was given to age of onset, ocular morphology, clinical appearance of the RRD and to the type and number of applied surgical procedures and their anatomical and functional outcome. Results: The average age of onset was reduced to 36±18 years in family A and to 14±5 years in family B. Ocular axial lengths averaged 24.8 mm and 26.6 mm, and a mean number of respectively 2.2 and 7.7 retinal defects found preoperatively. These defects were predominantly round, atrophic holes. Two of the total of twenty affected eyes showed significant preoperative proliferative vitreoretinopathy. In three eyes pars plana vitrectomy was the primary surgical procedure, whereas extraocular buckling was the initial procedure in fifteen other eyes. In one case scleral folding with diathermy was the primary intervention, one eye was inoperable. Redetachment following prior surgery occurred in five of ten cases of family A, while this was the case in four of nine cases of family B. Anatomical success was achieved in nine of ten eyes of family A and in seven of nine eyes of family B. Final visual acuities averaged to 20/80 (range 20/20 to no light perception) in family A with a diminished visual acuity of hand movements or less in three of ten treated cases and one inoperable case. In family B they averaged to 20/50 (range 20/25 to no light perception) with three of nine treated eyes with a diminished visual acuity of handmovements or less. Conclusions: In both families the prevalence of RRD is high, most patients being affected at relatively young ages when compared to non-genetically linked forms of RRD. The diminished successrates of surgical intervention and the high number of reoperations needed to achieve reattachment of the retina support the necessity of development of diagnostic genetic techniques that can identify individuals at risk. Use of the existing techniques would be advisable, because in subjects at risk prophylactic treatment is an option to prevent RRD, even when anatomical substrates of precursors of RRD are absent. In addition, surgical techniques aimed at prevention of PVR are advisable, due to the increased tendency to PVR in these eyes.
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