BACKGROUND: Blau Syndrome (BS) is a rare autosomal dominant noncaseous granulomatous disease caused by mutations in the NOD2 gene. The disease is characterized by granulomatous dermatitis, symmetrical arthritis, and uveitis, which, if left untreated, can progress to blindness. The diagnosis of BS can be challenging because of its rarity and overlap with other rheumatologic disorders. Early detection of ocular involvement is critical to prevent vision loss and improve the prognosis of patients with BS.
METHODS: In this report, we present a case of a five-year-old Chinese girl diagnosed with BS one year ago after presenting with a systemic rash and urinary calculi. Genetic testing was recommended by a physician, and a heterozygous mutation of the NOD2 gene c.1538T > C (p.M513T) was identified. Eight months ago, due to bilateral corneal punctate opacity, we had examined and diagnosed bilateral uveitis, bilateral corneal zonal degeneration, persistent fetal vasculature (PFV) in the right eye, and perivascular granuloma in the right eye. As a result, Vitrectomy was performed on the right eye, resulting in a significant improvement in visual acuity from 1/50 on the first day after surgery to 3/10 after 1 week. After 6 months, the visual acuity of the right eye was maintained at 3/20, but opacification of the lens posterior capsule was observed. Follow-up appointments are ongoing to monitor the condition of the affected eyes. Our report underscores the importance of prompt detection and management of ocular involvement in BS accompany with PFV to prevent vision loss and improve patient outcomes.
CONCLUSIONS: This report details the case of a child diagnosed with BS who accompanied a periretinal granuloma and PFV in the right eye. Regrettably, the left eye was observed to have no light perception (NLP) with the fundus not being visible. The occurrence of ocular complications in patients with BS, must be closely monitored to prevent vision loss and enhance treatment outcomes. This case underscores the importance of prompt diagnosis and management of ocular complications in patients with BS to prevent further damage and optimize patient outcomes.

OBJECTIVE: To describe a case of Bilateral Morning Glory Syndrome (MGS) associated with Unilateral Persistent Fetal Vasculature (PFV) in a 3-day old neonate.
METHODS: A 3-day-old neonate was found bilateral retinal abnormalities due to neonatal eye screening. Dilated fundus exam showed bilateral optic disc dysplasia with the persistent hyaloid vessels in right eye at first. With the progress of the disease, optic disc was enlarged with central umbilication which with a similar anomalous radiating peripapillary vascular appearance, the persistent hyaloid vessels in vitreous cavity of right eye gradually disappear, a large amount of exudation can be seen in the posterior pole retina with macular movement in both eyes. Bilateral vitrectomy was performed in this case, then the condition of the neonate\'s both eyes is stable until 1 year old.
CONCLUSIONS: This is a rare case that showing the development of MGS and PFV and the relationship between these two diseases. In addition, we completely observed the whole process of the change of the persistent hyaloid vessels in the vitreous cavity of a case of MGS associated with PFV.

OBJECTIVE: To investigate the ocular development of patients who had unilateral congenital cataract (CC) combined with persistent fetal vasculature (PFV).
METHODS: This cross-sectional, observational study included patients who had unilateral CC and PFV and those with isolated unilateral CC. Axial length (AL), keratometry, anterior chamber depth (ACD), lens thickness, and vitreous length were obtained. The ocular biometric parameters of the affected eyes of patients with CC and PFV were compared with the fellow eyes and with the affected eyes of patients with isolated CC.
RESULTS: A total of 110 patients were included and divided into 4 groups: group 1 (18 patients with CC and PFV, <24mo), group 2 (22 patients with CC and PFV, ≥24mo), group 3 (35 patients with CC, <24mo), and group 4 (35 patients with CC, ≥24mo). The ALs of the affected eyes were shorter than those of the fellow eyes in group 1 (20.02±1.06 vs 20.66±0.63 mm, P=0.025). While the ALs of the affected eyes were longer than those of the fellow eyes in group 2 (23.18±2.00 vs 22.31±1.06 mm, P=0.044) and group 4 (22.64±1.80 vs 22.02±1.01 mm, P=0.033). The keratometries of the affected eyes were steeper than those of the fellow eyes in group 2 (44.78±1.66 vs 43.83±1.38 D, P=0.041) and group 4 (43.76±1.91 vs 43.34±1.46 D, P=0.043). No difference of ACDs between two eyes was found in all groups (all P>0.05).
CONCLUSIONS: Compared with the fellow eyes, the ALs of the eyes with unilateral CC and PFV are shorter in patients younger than 24mo and longer in those older than 24mo; the keratometries of the eyes with unilateral CC and PFV are steeper in patients older than 24mo and similar with those younger than 24mo. These findings provide further understanding of ocular development in patients with both CC and PFV.

OBJECTIVE: To present surgical outcomes following intraocular lens (IOL) implantation in combination with lensectomy and vitrectomy for the treatment of persistent fetal vasculature (PFV).
METHODS: This interventional case series included 19 eyes from 19 patients with unilateral combined PFV. Limbal lensectomy, capsulotomy, anterior vitrectomy, dissection of the retrolental membrane and stalk, and in-the-bag or in-the-sulcus IOL implantation were performed for the treatment of visually significant lenticular opacity with the presence of a retrolental fibrovascular membrane and stalk, in an eye with sufficient capsular support. Postoperative anatomical and visual outcomes were evaluated.
RESULTS: After 22 to 50 months of follow-up, IOLs were well positioned in 18 (95%) of 19 eyes. Retinal dragging was reversed in all 8 eyes with preexisting peripapillary tractional retinopathy. Major complications occurred in 2 eyes (11%): one eye (5.5%) of vitreous hemorrhage and posterior capsular opacity and one eye (5.5%) of IOL dislocation. Nine (47%) of 19 eyes achieved best-corrected visual acuity (BCVA) above 20/200. Myopic shift after IOL implantation ranged from 0.75 to 4.17 D. Compared with eyes with poorer BCVA, eyes with BCVA above 20/200 had a better preoperative BCVA (mean 20/400 vs. 20/4000, P = 0.004) and were less likely to have preexisting peripapillary tractional retinopathies (11% vs. 70%, P = 0.002).
CONCLUSIONS: Primary IOL implantation in combination with lensectomy and vitrectomy is an alternative to treat eyes with combined PFV. Prospects for rehabilitation may be limited by poor preoperative visual function and the presence of tractional retinopathies preoperatively. Postoperative refractive status requires long-term monitoring.

BACKGROUND: Persistent hyperplastic primary vitreous (PHPV) is a rare congenital developmental ocular disorder caused by incomplete regression of the embryonic hyaloid vasculature. Here we report a case of nonsurgical unilateral anterior PHPV that was managed by amblyopia treatment and resulted in an improvement of visual acuity and regression of the fetal vasculature.
METHODS: A three-year-old girl was diagnosed with unilateral anterior PHPV in the left eye, manifested with posterior pole cataract, posterior capsule opacification, tunica vasculosa lentis, and a floating hyaloid artery connected to the retrolental mass. The plaque was not large enough to fill the pupil, and conservative management along with amblyopia treatment was conducted. Nineteen months later, the visual acuity in the affected eye improved from 20/100 to 20/50 with correction, and the fetal vasculature regressed gradually and finally into a nonperfusion ghost vessel.
CONCLUSIONS: In PHPV-affected children, regression of the fetal vasculature may be observed, and conservative management and amblyopia treatment may be helpful for visual improvement.

BACKGROUND: Morning glory syndrome is a relatively rare congenital optic disc anomaly that is often difficult to identify when associated with additional congenital ocular anomalies. This case report describes the diagnosis, treatment, and postoperative follow-up care of a young girl with morning glory syndrome accompanied by persistent fetal vasculature, retinal fold, and retinal detachment. Here, we also give a brief review of the relevant literature.
METHODS: A 5-year-old girl was referred to our clinic for a complaint of decreased vision for 6 months in the right eye. The best corrected visual acuity was hand motion in her right eye and 0.8 in her left eye. A fundus examination indicated vitreous opacities and scattered hemorrhages, as well as striped folds in the temporal retina of the affected eye. B-ultrasound and magnetic resonance imaging scans suggested that it could be a congenital dysplasia of the right eye. Pars plana vitrectomy was performed in the right eye. Morning glory syndrome associated with persistent fetal vasculature was confirmed in subsequent follow-up observation according to the fundus appearance, optical coherence tomography, and fundus fluorescein angiography imaging.
CONCLUSIONS: The patient was diagnosed as morning glory syndrome associated with persistent fetal vasculature and retinal fold. The morning glory disc with the presence of retinal folds did not seem quite typical and that made the diagnosis difficult. This report stresses the importance of considering concurrent morning glory syndrome and persistent fetal vasculature. Vitrectomy may be beneficial in the management of the morning glory syndrome and persistent fetal vasculature if accompanied by retinal detachment in similar cases.

OBJECTIVE: To evaluate the surgical results of sulcus intraocular lens (IOL) implantation in children with unilateral anterior persistent fetal vasculature (PFV) underwent primary vitrectomy combined with lensectomy and preservation of the peripheral anterior capsule.
METHODS: Twenty-two eyes of 22 children with unilateral anterior PFV who underwent sulcus secondary IOL implantation were analyzed. Main outcome measures were preoperative and postoperative visual acuity, and complications both intraoperatively and postoperatively.
RESULTS: Review of 22 consecutive patients identified best-corrected visual acuity (BCVA) improvement from 1.37±0.84 to 0.73±0.57 logarithm of the minimal angle of resolution (logMAR) after IOL implantation (P<0.001) with a mean follow-up was 16.55±5.86mo. Average age at secondary IOL implantation was 41.05±15.41mo. Three eyes (13.64%) achieved BCVA of 0.3 logMAR at the final visit. Transient intraocular pressure rise (4 eyes; 18.18%), postoperative increased inflammation (3 eyes; 13.64%) and postoperative hypotony (2 eyes; 9.09%) were common complications.
CONCLUSIONS: Properly preservation of the anterior lens capsule during the primary surgery facilitated secondary sulcus IOL implantation in pediatric patients with anterior PFV, with favorable postoperative visual outcomes and compatible percentage of complications.

BACKGROUND: Congenital cataract is currently one of the leading blindness-causing eye diseases in children. Surgical treatment only opens the visual pathway for children. The postoperative recovery of visual function is also dependent on effective optical correction and visual function training. In this study, we analyzed the changes in eye-related parameters, adverse events and the annual cost of rigid gas permeable contact lens (RGPCL) and spectacles correction in infants with monocular aphakia after congenital cataract surgery.
METHODS: To analyze the postoperative visual acuity, strabismus, nystagmus, myopic shift, globe axial length growth, adverse events, patient adherence to patching, and annual cost for patients with unilateral congenital cataract who underwent cataract surgery. Rigid gas permeable contact lenses or spectacles were used to correct aphakia after congenital cataract.
RESULTS: Of the 49 patients, 20 patients with unilateral aphakia who used RGPCL were in group 1. Group 2 comprised 14 patients with persistent fetal vasculature (PFV) who used RGPCL, and there were 15 patients with spectacles in group 3. In group 1, there were important improvements in visual acuity, strabismus and nystagmus. In groups 2 and 3, there were no significant improvements in visual acuity, strabismus or nystagmus. Patients with a good adherence to patching had better visual acuity after the operation than patients who did not, in groups 1 and 3. There were no significant differences in myopic shift or rate of globe axial length growth among the 3 groups. No patients in group 1 had ocular disease that affected visual acuity. The mean annual expenses of the RGPCL group was 3965 yuan, and the mean annual cost of spectacles was 1140 yuan to 2500 yuan.
CONCLUSIONS: RGPCL is a safe and effective optical correction method for patients with monocular aphakia after congenital cataract surgery. Spectacles are not an ideal optical correction. Using RGPCL to correct patients with PFV, the final visual acuity improved, but the difference was not statistically significant. There were no improvements in strabismus or nystagmus in patients with PFV.

During development, the fetal vasculature nourishes the developing lens and retina, and it subsequently regresses after the formation of the retinal vessels. Persistent fetal vasculature (PFV) occurs as a result of a failure of fetal ocular vasculature to undergo normal programmed involution, which leads to blindness or serious loss of vision. Persistent fetal vasculature is responsible for as much as 5% of childhood blindness in western countries. The regulatory mechanisms responsible for fetal vascular regress remain obscure, as do the underlying causes of the failure of regression. Because of recent advancements in microinvasive surgical techniques, the early treatment of PFV has become safer and more effective, thus paving the way for the development of a future new treatment strategy. In this review, clinical and imaging manifestations of PFV and the progress in the treatment of PFV are highlighted.

OBJECTIVE: To evaluate the surgical outcomes in eyes with persistent fetal vasculatures (PFV) managed by small gauge pars plicata vitrectomy.
METHODS: Consecutive patients with PFV treated by small gauge pars plicata vitrectomy at Beijing Tongren Eye Center between January 2010 and January 2013 were retrospectively reviewed.
RESULTS: A total of 118 eyes of 105 patients with PFV were included and undergone small gauge pars plicata vitrectomy, of which 84 (71.2%) eyes had lensectomy and 16 (13.6%) eyes had lens aspiration and immediate intraocular lens implantation. The percentage of sutured scleral incision of 23 gauge vitrectomy (71.7%, 33/46) was higher than that of the 25 gauge vitrectomy (18.1%, 13/72). At last follow-up, visual acuity remained stable in 34 eyes (28.8%) and improved in 84 eyes (71.2%). Age at surgery (less than 2y), anterior type of PFV, and immediate IOL implantation were associated with postoperative improved visual acuity. Sixty five (55.1%) eyes had retinal detachment preoperatively, among which 33 (50.8%, 33/65) eyes had retinal reattachment or partial retinal reattachment.
CONCLUSIONS: The results suggest that cases with PFV have a potential for developing good visual acuity after small gauge pars plicata vitrectomy with favorable anatomic outcomes and acceptable rate of serious surgical complications.