Microcornea, posterior megalolenticonus, persistent fetal vasculature, and coloboma: a new syndrome.

PURPOSE: To report a newly identified syndrome of bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature, and chorioretinal coloboma (MPPC). DESIGN: Noncomparative case series. PARTICIPANTS: Eight patients with MPPC syndrome. METHODS: Clinical data collected retrospectively included visual acuity, findings on office examination as well as examination under anesthesia, and, in some cases, fluorescein angiography. Intraoperative findings and postoperative visual acuity and clinical findings were recorded when surgical intervention was performed. MAIN OUTCOME MEASURES: Clinical description, intraoperative findings, and surgical outcomes. RESULTS: All patients were found to have microcornea with corneal diameters of less than 8 mm. In all cases, the crystalline lens was found to be retrodisplaced with massive enlargement and a dramatic posterior lenticonus (posterior megalolenticonus), and the ciliary processes frequently were drawn to the lens capsule. A stalk of persistent fetal vascular tissue extended from the posterior pole of the lens to the optic disc. Posterior chorioretinal coloboma was present in all cases. Some cases also exhibited grossly dysplastic retina. Presentation frequently was asymmetric. Eight eyes of 6 patients underwent lensectomy, vitrectomy, membrane peeling, and fluid-Healon exchange (Healon OVD [sodium hyaluronate]; Advanced Medical Optics, Santa Ana, CA) with functional vision in at least 4 of the 5 patients with postsurgical follow-up. CONCLUSIONS: Bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature, and chorioretinal coloboma syndrome is a distinct syndrome previously unreported, to the authors' knowledge, and appropriate surgical intervention may result in significantly improved visual function.

Persistent hyperplastic primary vitreous: congenital malformation of the eye.

Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature, is a rare congenital developmental malformation of the eye, caused by the failure of regression of the primary vitreous. It is divided into anterior and posterior types and is characterized by the presence of a vascular membrane located behind the lens. The condition can be of an isolated type or can occur with other ocular disorders. Most cases of PHPV are sporadic, but it can be inherited as an autosomal dominant or recessive trait. Inherited PHPV also occurs in several breeds of dogs and cats. In a limited number of cases, Norrie disease and FZD4 genes are found to be mutated in unilateral and bilateral PHPV. These genes when mutated also cause Norrie disease pseudoglioma and familial exudative vitreoretinopathy that share some of the clinical features with PHPV. Mice lacking arf and p53 tumour suppressor genes as well as Norrie disease pseudoglioma and LRP5 genes suggest that these genes are needed for hyaloid vascular regression. These experiments also indicate that abnormalities in normal apoptosis and defects in Wnt signalling pathway may be responsible for the pathogenesis of PHPV. Identification of other candidate genes in the future may provide a better understanding of the pathogenesis of the condition that may lead to a better therapeutic approach and better management.

Risk factors for complications after congenital cataract surgery without intraocular lens implantation in the first 18 months of life.

PURPOSE: To determine individual risk factors for the development of postoperative complications after pediatric cataract surgery in the first 18 months of life. DESIGN: Interventional, consecutive case series. METHODS: We retrospectively reviewed the records of 71 eyes of 46 children who underwent surgery for congenital cataract within the first 18 months of life. A limbal approach bimanual lens aspiration, posterior capsulorrhexis, and anterior vitrectomy without intraocular lens implantation was performed in all children. We examined the interrelationships of operative and postoperative complications with other variables such as patient age, family history, or ocular abnormalities. The mean follow-up period was 39 months. RESULTS: The most frequent postoperative complications were late-onset open-angle glaucoma (10.8%) and vitreous hemorrhage (10.8%), whereas early-onset glaucoma (4.6%) was less common. Secondary cataract was observed in seven eyes (9.2%). We determined a family history of aphakic glaucoma in first-degree relatives (P = .007) as well as cataract surgery in the first three months of life (P = .039) and nuclear cataracts (P = .0009) to be strong predictors of late-onset glaucoma. Secondary cataract formation was associated strongly with lensectomy in the first five months of life. The diagnosis of postoperative hemorrhages was associated significantly with the presence of persistent fetal vasculature (P < .0001). CONCLUSIONS: Patients with preoperative predictors at presentation such as young age at the time of surgery, a family history of aphakic glaucoma, nuclear cataract, or persistent fetal vasculature syndrome offer a clear target for extensive postoperative care after congenital cataract surgery.

Formation of persistent hyperplastic primary vitreous in ephrin-A5-/- mice.

PURPOSE: Primary vitreous regression is a critical event in mammalian eye development required for proper ocular maturity and unhindered vision. Failure of this event results in the eye disease persistent hyperplastic primary vitreous (PHPV), also identified as persistent fetal vasculature (PFV), a condition characterized by the presence of a fibrovascular mass adjacent to the lens and retina, and associated with visual disability and blindness. Here, we identify ephrin-A5 to be a critical regulator for primary vitreous regression. METHODS: Wild-type and ephrin-A5(-/-) eyes were examined at various developmental stages to determine the progression of PHPV. Eye tissue was sectioned and examined by H&E staining. Protein expression and localization was determined through immunohistochemistry. Relative levels of Eph receptors were determined by RT-PCR. RESULTS: Ephrin-A5(-/-) animals develop ocular phenotypes representative of PHPV, most notably the presence of a large hyperplastic mass posterior to the lens that remains throughout the lifetime of the animal. The aberrant tissue in these mutant mice consists of residual hyaloid vessels surrounded by pigmented cells of neural crest origin. Labeling with bromodeoxyuridine (BrdU) and detection of proliferating cell nuclear antigen (PCNA) expression shows that the mass in ephrin-A5(-/-) animals is mitotically active in embryonic and postnatal stages. CONCLUSIONS: Ephrin-A5 is a critical factor that regulates primary vitreous regression.

Clinical characteristics and treatment of 22 eyes of morning glory syndrome associated with persistent hyperplastic primary vitreous.

PURPOSE: To describe the clinical manifestations and treatment outcomes in a retrospective case series of morning glory syndrome (MGS) associated with persistent hyperplastic primary vitreous (PHPV). METHODS: The medical records of 85 eyes/74 patients referred for ophthalmology consultation diagnosed as MGS in our clinic were reviewed retrospectively. All patients underwent thorough ophthalmological examinations. 22 eyes of 19 patients diagnosed as having MGS associated with PHPV were included, accounting for 25.88% of all the MGS eyes. Clinical manifestations and management of these patients were documented. RESULTS: 15 patients (78.95%) were younger than 1 year old at the first diagnosis. Six eyes were associated with microphthalmia. 19 of 22 eyes (86.36%) had complications, including cataract (10 eyes), secondary glaucoma (8 eyes), corneal leucoma or oedema (8 eyes), retinal detachment (8 eyes), strabismus (3 eyes) and nystagmus (2 eyes). Treatment methods varied depending on the severity of the complications. Nine eyes with secondary glaucoma or cataract got lensectomy; three eyes underwent combined vitrectomy and lensectomy. Eight patients underwent cranial MRI/MR angiography or CT examination. Widened cerebral fissures of bilateral temporal lobes, abnormal dilated branch of middle cerebral artery in the left hemisphere and abnormal signal in the grey matter of frontal and occipital lobes were revealed respectively in three patients. CONCLUSIONS: Our study revealed the coexistence of PHPV in a significant percentage of patients with MGS, suggesting a potential common genetic link. Compared with MGS and PHPV alone, the combination of the two conditions manifested with higher incidence and more severe complications in younger patients. Close follow-up was recommended. Lensectomy and vitrectomy were beneficial in the management of the complications.

Lenticular abnormalities in children.

PURPOSE: To study the lenticular problems in children presenting at an apex institute. METHODS: Retrospective analysis of records (< 14 years) of new lens clinic cases was done. RESULTS: Of 1,047 children, 687 were males. Mean age at presentation was 6.35 ± 4.13 years. Developmental cataract was seen in 45.6% and posttraumatic cataract in 29.7% of patients. Other abnormalities were cataract with retinal detachment, persistent hyperplastic primary vitreous, subluxated lens, micro/spherophakia, cataract secondary to uveitis, intraocular lens complications, cataract with choroidal coloboma, and visual axis opacification. CONCLUSION: Developmental and posttraumatic cataracts were the most common abnormalities. Delayed presentation is of concern.

Vitreous hemorrhage in a premature infant with patent hyaloid artery and increased intracranial pressure.

Reports of intraocular bleeding in infants from nonabusive causes are rare. The authors report a case of visually significant vitreous hemorrhage in an infant with a persistent hyaloid artery who also had raised intracranial pressure secondary to an intraventricular bleed.

Persistent fetal vasculature and spontaneous hyphema in a patient with Klippel-Trénaunay-Weber syndrome.

Klippel-Trénaunay-Weber syndrome is characterized by the triad of capillary malformations (usually port-wine stains), varicose veins or venous malformations of unusual distribution, and soft-tissue or bony hypertrophy of an extremity. The syndrome can be diagnosed on the basis of 2 of these 3 features. In the atypical form of the syndrome, capillary malformations may be absent. Recognition is possible during infancy or early childhood, and evaluation and treatment is important to minimize morbidity. We describe the case of an 11-year-old girl who presented with hyphema after a Valsalva maneuver and was found to have persistent fetal vasculature in the affected eye. She had systemic features of Klippel-Trénaunay-Weber syndrome. Magnetic resonance imaging, magnetic resonance angiography, and magnetic resonance venography scans of the brain and orbits were normal. Magnetic resonance imaging scan of the left hypertrophied lower limb revealed venous malformations leading to soft-tissue hypertrophy. To our knowledge, this is the first case of persistent fetal vasculature and hyphema in a patient with Klippel-Trénaunay-Weber syndrome.

Persistência hiperplásica do vítreo primitivo: avaliação por métodos de imagem / Persistent hyperplastic primary vitreous: imaging evaluation

Persistência hiperplásica do vítreo primitivo (PHVP) é um desenvolvimento anormal, afetando crianças, resultante da falha de regressão do vítreo primitivo e dos vasos hialóides, com proliferação de tecido conectivo. A PHVP pode ter três variações: uma anterior, outra posterior e uma terceira com a combinação das duas. Clinicamente manifesta-se como leucocoria (reflexo branco pupilar) em um olho de dimensões reduzidas. Esta anomalia é usualmente unilateral e não associada com outros achados sistêmicos. Leucocoria, descolamento de retina, pregas retinianas e catarata podem confundir PHVP com outras afecções oculares que têm achados semelhantes. Retinoblastoma, catarata congênita, retinopatia da prematuridade e pseudogliomas são doenças com achados semelhantes aos da PHVP. A visualização direta dos remanescentes do sistema vascular hialóide fetal é a melhor evidência da lesão presente, se não fosse, muitas vezes impossivel, à fundoscopia, devido à opacidade do tecido. Nestes casos, a visualização indireta, por meio de ultra-sonografia, tomografia computadorizada e ressonância magnética, fornece o diagnóstico. As imagens obtidas por estes métodos proporcionam, ainda, informações e diagnóstico diferencial com outras doenças, particularmente com o retinoblastoma. Os autores fazem uma revisão na literatura e apresentam um estudo iconográfico das imagens e achados da PHVP

Persistent hyperplastic primary vitreous (PHPV) is a congenital developmental anomaly of the eye that primarily affects premature infants. PHPV results from failure of regression of the embryogenic primary vitreous and hyaloid vasculature, and proliferation of connective tissue. Three types of PHPV may be found: anterior, posterior and a combination of anterior and posterior. The clinical findings include leukocoria (white pupillary reflex) and microphthalmic eye. This anomaly is usually unilateral and unassociated with other systemic findings. The differential diagnosis between PHPV and other ocular diseases may be difficult due to similar features such as leukocoria, detached retina, retinal folds and cataract. Other diseases with similar features include retinoblastoma, isolated congenital cataract, retinopathy of prematurity and pseudogliomas or leukocorias. Direct visualization of the remnants of the fetal hyaloid vascular system offers the best evidence of PHPV. However, diagnosis using the ophthalmoscope is sometimes impossible because of opaque tissues. In this circumstance an indirect visualization by ultrasound, computed tomography or magnetic resonance imaging may be useful. These imaging methods provide valuable information for the differentiation from other diseases, particularly retinoblastoma. The authors present a review of the literature and an iconographic study of the imaging findings in patients with PHPV.