Familial exudative vitreoretinopathy (FEVR) is a hereditary retinal vascular disorder. Among the various clinical phenotypes of this disease, retinal folds are the primary and typical feature of FEVR. However, little is known about the clinical characteristics, genetic spectrum, or potential phenotype-genotype correlation of retinal folds. Herein, we describe and analyze the clinical and genetic characteristics of retinal folds in FEVR. Eighty-nine patients with unilateral or bilateral retinal folds were included in this study. Clinical examinations showed that the retinal folds were bilateral in 37 patients (41.6%). Various retinal abnormalities were noted in the fellow eyes in the remaining 52 patients with unilateral folds. Most of the folds were located temporally (98.4%, 124/126), and were complete (97.6%, 123/126). 67.5% (60/89) probands were genetic confirmed FEVR. 25 novel pathogenic mutations (7 in FZD4, 7 in LRP5, 1 in NDP, 4 in TSPAN12, and 6 in KIF11) were identified in 25 families. Overall, 87.5% (14/16) and 73.7%(14/19) patients with LRP5 and FZD4 mutations were with unilateral folds, respectively.Nevertheless, only 25% (2/8), 36.4%(4/11) and 16.7%(1/6) patients with NDP, TSPAN12, and KIF11 mutations were with unilateral folds. Moreover, 85.7%(12/14),100% (6/6) and 100%(8/8) of the patients with mutated TSPAN12, KIF11, and NDP genes presented with symmetry in disease staging, while 55% and 64.7% of patients with FZD4 and LRP5 mutation displayed symmetry in staging. In conclusion, the majority of retinal folds extended completely and radially in the temporal peripheral retina. Patients with causative mutations in NDP, TSPAN12, or KIF11 were more likely to have bilaterally symmetrical severe retinopathy. In contrast, patients with LRP5 and FZD4 mutations displayed a relatively milder but broader spectrum of phenotypes and a higher frequency of asymmetry.

OBJECTIVE: To assess the presence of outer and inner retinal folds (RFs) and drop-out of the ellipsoid zone (EZ) occurring after surgical repair of macula-off rhegmatogenous retinal detachment (RRD) with different postoperative posture and preoperative use of adjuvant perfluorocarbon liquid (PFCO).
METHODS: In this prospective study, 56 eyes of 56 consecutive patients affected by RRD were subjected to 23- or 25-gauge pars plana vitrectomy (PPV). The patients were randomized in four groups (14 prone 5 hr without PFCO, 14 supine 5 hr without PFCO, 14 prone 5 hr with PFCO and 14 supine 5 hr with PFCO) and followed up with spectral domain optical coherence tomography (SD-OCT).
RESULTS: Spectral domain optical coherence tomography (SD-OCT) was recorded before surgery, at days 30 and 90 to detect the presence of outer RFs, inner RFs and drop-out of EZ and to follow their variation over time. No statistical significance was found in our groups for outer RFs, inner RFs, drop-out of EZ formation and evolution. The postoperative best-corrected visual acuity (BCVA) improved in all groups (mean preoperative BCVA 1.47 logMar ± 0.19, mean postoperative BCVA 0.27 logMar ± 0.11, p < 0.01), without statistical variations between the four groups in BCVA after surgery.
CONCLUSIONS: The use of adjuvant and variation in postoperative position did not change the risk of presenting outer RFs, inner RFs and drop-out of EZ after RRD.