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.

The most cases of persistence hyperplastic primary vitreous (PHPV) are unilateral and sporadic, however, bilateral presentation could be present in a small number of patients, in whom other genetic diseases must be ruled out. We describe a case of a 2 months child with bilateral persistence hyperplastic primary vitreous confirmed by ultrasound. In addition, with neurodevelopmental defects, microcephaly, facial dimorphism, axial hypotonia, and without brain abnormalities on MRI, in whom a de novo mutation of the CTNNB1 gene was found during the genetic study, which explains the findings.

The most cases of persistence hyperplastic primary vítreous (PHPV) are unilateral and sporadic, however, bilateral presentation could be present in a small number of patients, in whom other genetic diseases must be ruled out. We describe a case of a 2 months child with bilateral persistence hyperplastic primary vítreous confirmed by ultrasound. In addition, with neurodevelopmental defects, microcephaly, facial dimorphism, axial hypotonia, and without brain abnormalities on MRI, in whom a de novo mutation of the CTNNB1 gene was found during the genetic study, which explains the findings.

UNASSIGNED: Aicardi syndrome is an X-linked condition that is associated with multiple ophthalmic malformations. Here, we report the first published fluorescein angiography (FA) study of a morning glory optic nerve in a patient with Aicardi syndrome and contralateral persistent fetal vasculature (PFV).
UNASSIGNED: A 12-day old full-term baby girl with a normal neurological exam was referred for evaluation of microphthalmia. The posterior segment of the right eye demonstrated chorioretinal lacunae typical of Aicardi syndrome and microphthalmos with a stalk consistent with PFV. The right eye imaging could not be captured due to the severe microphthalmos and cataract, however, fluorescein angioscopy was performed. The left eye demonstrated a morning glory appearing optic disc with peripapillary chorioretinal lacunae. Fluorescein angiography of the eye showed and late staining in the areas of ellipsoid chorioretinal lacunae emanating from the optic nerve and extensive peripapillary staining and late leakage of the optic nerve.
UNASSIGNED: Patients with Aicardi syndrome can have morning glory optic nerve anomaly and PFV. Using FA under anesthesia to detect these abnormalities help in estimating the extend of the disease and its complications, which allows for better management of the complications.

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: Persistent fetal vasculature (PFV) is a unique ocular disorder usually presenting early in life. The unregressed embryonal hyaloid vasculature poses a risk of severe ocular complications leading to decreased visual acuity. Surgery is the mainstay of therapy in complicated cases. We describe the clinical presentation and surgical treatment of PFV managed at our center from 2012 to 2015.
METHODS: The study is a case series comprised eight patients who were diagnosed with complicated severe PFV. All were managed with a tailored surgical approach. The clinical characteristics, medical and surgical treatment, and follow-up findings of each case are described.
RESULTS: There were six males and two females. Surgical intervention involved anterior or posterior vitrectomy, lens extraction, and intraocular lens implantation. Hyaloid stalk removal with release of ciliary traction was variably utilized in selected cases. Endodiathermy controlled intraocular bleeding, and intraocular scissors proved helpful in anterior PFV for disinserting the ciliary process from an abnormally thickened posterior lens capsule. Visual outcomes differed in each case, depending on multiple clinical factors.
CONCLUSIONS: Severe complex PFV presents a therapeutic challenge. A tailored surgical approach with meticulous postoperative management is essential for visual rehabilitation.

Persistent Hyperplastic Primary Vitreous (PHPV), now-a-days referred to as Persistent Fetal Vasculature (PFV), is a rare congenital anomaly of the eye that typically presents unilaterally with white pupillary reflex and microphthalmia without systemic associations. Bilateral presentations are rare. Here we report a case of 15-year-old male with bilateral PFV without leucokoria who was misdiagnosed as congenital esotropia with amblyopia, treated for refractive errors and referred to higher centre for squint corrections. The diagnosis of PFV was made easily on slit lamp examination with dilated pupil due to media clarity. Findings were confirmed by colour doppler ultrasonography of the eyes. This case warrants essential screening of the posterior segment of all children with deviated eyes to ensure earliest detection of such pathologies.