Persistent hyperplastic primary vitreous (PHPV) is a rare congenital developmental ocular disorder caused by incomplete regression of the embryonic hyaloid vasculature; bilateral presentations are even rarer. We report a 6-year-old child with bilateral PHPV who visited our hospital for strabismus, without exhibiting leukocoria, microphthalmia, and systemic diseases. These unique characteristics distinguish our case from other cases of PHPV. It is crucial to increase awareness of congenital eye disease in children and the importance of performing fundus examination with the pupils dilated.

BACKGROUND: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome is a rare autosomal dominant disorder characterized by megalencephaly (i.e., overgrowth of the brain), polymicrogyria, focal hypoplasia of the cerebral cortex, and polydactyly. Persistent hyperplastic primary vitreous (PHPV) involves a spectrum of congenital ocular abnormalities that are characterized by the presence of a vascular membrane behind the lens.
METHODS: Here, we present a case of foetal MPPH with PHPV that was diagnosed using prenatal ultrasound. Ultrasound revealed the presence of megalencephaly, multiple cerebellar gyri, and hydrocephalus. Whole-exome sequencing confirmed the mutation of the AKT3 gene, which led to the consideration of MPPH syndrome. Moreover, an echogenic band with an irregular surface was observed between the lens and the posterior wall of the left eye; therefore, MPPH with PHPV was suspected.
CONCLUSIONS: MPPH syndrome with PHPV can be diagnosed prenatally.

BACKGROUND: Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature (PFV), is a clinical entity that traditionally presents with leukocoria, microphthalmia, retinal dysplasia, or eyeball shrinkage which is associated with poor vision. However, there is a dearth of literature on cases of PHPV in adulthood or with asymptomatic occurrence. This report presents the clinical and pathological findings of a non-typical PHPV case and discuss the current knowledge for this condition.
METHODS: A 68-year-old healthy male was referred to our outpatient department for evaluation of age-related cataract without other visual symptoms. Preoperative fundus examination occasionally detected an isolated stalk-like band extending to the posterior pole of the eye with normal central vitreous and retina. Other ocular examinations including b-mode ultrasonography, optical coherence tomography did not unveil any abnormalities, which caused diagnostic uncertainty. We referred to cataract surgery along with histopathological study, that revealed characteristics of PHPV including fibrous connective tissues mainly composed of fibrocyte proliferation and a very few capillary vessels. Thereafter, a definitive diagnosis of non-typical PHPV was established.
CONCLUSIONS: Our case is unique due to it was not discovered until adulthood, presence with only age-related cataract, and accompanied with normal central vitreous and retina. Histopathological explorations lead to an accurate diagnosis of the condition. Those results broaden the phenotype spectrums of PHPV and further provide clinical clues for the cognition of the disease.

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.

BACKGROUND: Persistent hyperplastic primary vitreous (PHPV) in a patient with tuberous sclerosis (TS) has been described in one previous case report in 1999. Otherwise, there is no literature around this potential association. We describe a case of an infant with TS and PHPV.
METHODS: An 11-month old male was under investigation for leukocoria, microphthalmia and suspected PHPV after being seen in ophthalmology clinic. He presented to hospital with seizures and was diagnosed with TS on imaging. Imaging also showed the known microphthalmia and a mass associated with the lens. Subsequent paediatric ophthalmology review and examination under anaesthesia confirmed microphthalmia, PHPV and a retrolental mass which was thought to represent total retinal detachment or a retinal hamartoma within a retinal detachment.
CONCLUSIONS: This is the second case report of PHPV in a patient with TS. The previous case report postulated that the atypical location of the retinal hamartoma was secondary to the abnormal globe development in PHPV.

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.

BACKGROUND: Association of morning glory disc anomaly (MGDA) with persistent hyperplastic primary vitreous (PHPV) has been reported earlier. Retinopathy of prematurity (ROP) like retinopathy in preterm babies with optic disc anomalies has also been published. Our case is unique in terms of presence MGDA, PHPV, unilateral ROP like retinopathy in a term infant with normal birth weight.
METHODS: A 5-month-old girl, born at term with a birth weight of 3750 g, presented with anterior PHPV, MGDA and ROP like retinopathy. In order to prevent retinal detachment, she received 360 degree barrage laser photocoagulation at the edge of the optic disc excavation of the left eye. In the follow-up a month later, laser scars were found in her left fundus without other complications.
CONCLUSIONS: PHPV and MGDA with ROP like retinopathy in term and normal weight baby is rare. The peripheral avascular retinal area, caused by the dragging of the defected optic disc, might have been more vulnerable to the oxygen change after birth which resulted in ROP like retinopathy. High sensitivity to oxygen results in a series of changes such as upregulation of VEGF and IGF-1 may cause ROP-like retinopathy.

In congenital eyelid imbrication syndrome, a rare condition, the upper eyelids override the lower lids. It has been described in the literature either as an isolated entity or associated with floppy eyelid syndrome. We report the case of a 2-month-old with congenital eyelid imbrication syndrome associated with complex microphthalmos in the same eye and persistent fetal vasculature in the other eye, with no other systemic abnormality. The eyelid condition improved spontaneously over a period of 2 months. The persistent fetal vasculature was managed surgically with lensectomy and vitrectomy followed by visual rehabilitation.

BACKGROUND: In this case report, we present for the first time central retinal artery occlusion (CRAO) and central retinal vein occlusion (CRVO) as a complication of persistent hyaloid artery (PHA).
METHODS: In August 2019, a six-year-old male patient manifested right eye (RE) excessive tearing, conjunctival injection and pain. On examination, RE demonstrated light perception and intraocular pressure of 36 mmHg. The diagnoses of neovascular glaucoma, CRVO and CRAO were established as affirmed with fluorescein angiography (FA). PHA was not reported. Extensive work-up and family history were unremarkable. The child was born on term after uncomplicated twin pregnancy. In December 2019, he was referred to our Centre. Transillumination revealed fully dilated, non-reactive RE pupil, clear lens and tubular remnant of HA containing blood cells in its lumen freely rotating in the anterior vitreous.
CONCLUSIONS: PHA results from failure of apoptosis during gestation. It can easily be observed during the red reflex screening at neonatal wards. We hypothesized that PHA twisting led to torsion of the residual primordial common bulb, branching off to HA and CRA with CRAO occurring first. The consequential CRVO presumably advanced by venous stasis due to decrease in arterial inflow. Liquid vitreous appears as early as 4 years of age enabling PHA to whirl more freely. Thus, in case of PHA, we advocate FA to be performed and if connection with retinal artery is proven, parents should be informed on the possible devastating complications and prompt surgical treatment should be considered.

The article presents a clinical case of a functioning hyaloid artery in a 69-year-old patient. The results of OCT-angiography made it possible to detect the presence of blood flow in the projection of the persistent hyaloid artery (PHA) on the cross-section and en-face images. The vascular bed of PHA spreading along the posterior surface of the lens in the form of separate branches was visualized by slit-lamp biomicroscopy. The uniqueness of this clinical case lies in the low probability of such findings in the elderly. The presence of a developing cataract indicates the need for an individual approach in determining treatment strategies. In our opinion, the consistent use of laser coagulation technologies and laser photodestruction of PHA will minimize the risk of hemophthalmos and tractional retinal detachment during the upcoming cataract surgery.
В статье представлен клинический случай функционирующей фетальной артерии стекловидного тела у пациентки 69 лет. Результаты оптической когерентной томографии с функцией ангиографии свидетельствуют о наличии кровотока в проекции персистирующей гиалоидной артерии (ПГА) на поперечных срезах изображения и на снимках en-face. При биомикроскопии переднего отрезка глаза визуализировано сосудистое русло ПГА, распространяющееся по задней поверхности хрусталика в виде отдельных веточек. Уникальность данного клинического случая обусловлена малой вероятностью подобных находок у лиц пожилого возраста. Наличие у пациентки прогрессирующей катаракты указывает на необходимость индивидуального подхода при определении тактики лечения. На наш взгляд, последовательное использование технологий лазерной коагуляции и лазерной фотодеструкции ПГА позволит минимизировать риск развития гемофтальма и тракционной отслойки сетчатки во время предстоящей операции по поводу катаракты.