Persistent Hyperplastic Primary Vitreous Research Articles

Long-Term Results of Early Contact Lens Use in Pediatric Unilateral Aphakia

To evaluate which factor(s) might predict excellent Snellen visual acuity results in unilateral nontraumatic pediatric aphakes. Retrospective review of all unilateral pediatric aphakic patients seen in a specialty contact lens clinic between 1982 and 2009. Inclusion criteria as follows: (1) cataract extraction before age 6 weeks, (2) no other health complications, (3) contact lens fitting within 3 weeks postsurgery, and (4) measurable subjective visual performance on a clinical Snellen acuity chart. Fifteen patients were identified: 10 patients with persistent fetal vasculature syndrome (PFV) and 5 patients with the diagnosis of idiopathic congenital cataract (ICC). Final Snellen acuity results showed seven patients (46.67%) developed excellent Snellen visual acuities (defined as 20/50 or better), four patients (26.67%) developed moderate Snellen visual acuities (20/125 to 20/60), and four total patients (26.67%) developed poor Snellen visual acuities (worse than 20/200). Analysis used descriptive statistics. Approximately 50% of our unilateral nontraumatic pediatric aphakic patients aged older than 5 years achieved excellent Snellen visual acuity in the aphakic eye. The amount of surgical or ocular complications seems to have an inverse relationship with Snellen visual acuity in PFV. Patching compliance, without implying cause-effect direction, also had a direct relationship with final Snellen visual acuity for patients. Early cataract extraction, good to moderate patching compliance, and aggressive early contact lens management can lead to moderate to excellent Snellen visual results in several unilateral pediatric aphakic patients.

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.

Skin Ulcerations in a Preterm Newborn

A preterm female infant has had skin ulcerations since birthCongenital absence of skin(1):Skin biopsy and ocular, rectal, and oral swabs were positive for HSV-1 by polymerase chain reaction (PCR). Skin biopsy revealed abnormal hair follicles that had extensive dystrophic calcification and total loss of follicular epithelium. The placenta exhibited areas of acute necrotizing villitis as well as multinucleated giant cells with nuclear staining positive for HSV-1. Given the grave neurologic and overall prognosis, the infant’s care was redirected and she was allowed to die a natural death.Intrauterine HSV infection is a rare but devastating illness. Approximately 1,500 cases of neonatal herpes infection occur annually in the United States, affecting approximately 1 in 3,200 neonates. (2,3) Although most neonatal herpes infections are acquired at the time of delivery (85%) and postnatally (10%), a small percentage (<5%) are acquired in utero. (2,4) Intrauterine HSV is acquired from ascending infection or hematogenous transplacental spread and is more likely to occur with primary rather than recurrent infections due to higher viral loads and longer periods of viral excretion. (5,6) A recent study of 69 consecutive cases of intrauterine fetal death found that 5% resulted from intrauterine HSV infection. (7)Symptoms of intrauterine infection are present at delivery or within the first 48 hours of birth(8) and usually involve the skin (94%), brain (79%), and eyes (59%). (9) Cutaneous manifestations include vesicles, ulcerations, pustules, bullae, hypopigmented scarring, zosteriform skin denudation in dermatomal distributions, (10) lesions resembling epidermolysis bullosa, (11,12) or aplasia cutis congenita. (12,13) Although rare, infants without mucocutaneous lesions have been reported. (14) Among the central nervous system (CNS) manifestations are hydrocephalus, cystic lesions, (1) hydraencephaly, brain atrophy, (15) hemorrhage, and encephalomalacia; (16) unlike the predilection for the temporal lobe seen in older infants who have HSV encephalitis, neonatal HSV can involve any and multiple regions of the brain. (2) Eye findings include chorioretinitis, microphthalmia, and persistent fetal ocular vasculature. (15,17) Systemic involvement is common, with many infants exhibiting disseminated disease on autopsy, especially of the liver, lungs, and adrenal glands. (15) Radiographs of the long bones may reveal metaphyseal lucencies as well as soft-tissue densities consistent with cutaneous calcification (dystrophic calcinosis cutis). (18) Additional rare reported findings include hydrops fetalis (19) and limb hypoplasia. (20)HSV is diagnosed via PCR testing of blood, cerebrospinal fluid (CSF), or scrapings of lesions. Acyclovir remains the current treatment (60 mg/kg per day divided every 8 hours), and the length of therapy is 21 days for disseminated or CNS disease. (21) The dosing interval may need to be increased in preterm infants based on creatinine clearance. (22) All infants who have CNS involvement should undergo a repeat lumbar puncture at the end of therapy to determine that CSF is PCR-negative. (23)Most cases of intrauterine HSV infection are identified as HSV-2 (90%), (24) but several cases of intrauterine infection with HSV-1 have been reported. (8,14,25) Infants infected with HSV in utero are more likely to be born preterm (59%) and have lower birthweights and shorter lengths. (24) The prognosis for intrauterine HSV infection is dismal. In the largest series of intrauterine HSV infection, 4 of 13 infants died; 7 of 13 had severe impairment, including intellectual disability, severe developmental delay, seizures, blindness, and hearing deficits; and 2 of 13 were expected to have severe impairment. (15) A single report describes a term infant who had large areas of atrophic skin scarring, erythema, and dystrophic nails present at birth and developed vesicles 4 days later that were positive for HSV-1. (8) He was presumed to have intrauterine infection due to skin scarring present at birth, was treated with acyclovir, and remained healthy at 18 months of age.In summary, intrauterine HSV is a rare but devastating illness that most often manifests with skin findings present at birth. A high index of suspicion is necessary to attempt to ameliorate the disease process, but outcomes are nearly uniformly poor.JoDee M. Anderson, MD, Division of Neonatal Medicine, Oregon Health & Science University, Portland, OR

Diagnosis of Retinoblastoma: How good are referring physicians?

Purpose: To evaluate accuracy of the referring diagnoses of retinoblastoma to a tertiary cancer referral center.Methods: Retrospective chart review of 352 retinoblastoma-related patients seen by the ophthalmic oncology service during a 4-year period from January 1, 2004 to October 21, 2008. Of these, 111 were referred with a suspicion of new retinoblastoma and were included in the study. Fundus photographs, gender, family history of retinoblastoma, initial symptoms, age, initial and referring physicians’ specialty (eg, pediatrician, general ophthalmologist, retinal specialist) and their suspected diagnoses were recorded. The main outcome measure was accuracy of diagnosis given by referring providers.Results: Of 111 patients, 62% had retinoblastoma and 38% did not. Persistent fetal vasculature (PFV) and Coats’ Disease were the most common simulating lesions accounting for 31% and 29% of the simulating lesions respectively. Other simulating lesions included infrequent cases of rare conditions such as primary ocular teratoma, a retinal pigment epithelial tumor, and astrocytic hamartoma.Conclusions: Retinoblastoma continues to present a diagnostic dilemma. There has been limited improvement in the rate of correct diagnosis in the United States in the last 15 years. There has however been a change in the composition of misdiagnosed lesions with rare conditions accounting for more than 1/3 of cases. Attention to age, family history, laterality and presenting signs such as globe size can aid diagnosis of retinoblastoma.

Screening for mouse eye and vision defects at MRC Harwell

Abstract Purpose Characterisation of novel genes involved in vision and eye development from the Harwell EUMODIC screen and a recessive ENU mutagenesis screen. Methods Mice have been generated through the EuComm and EuModic programmes that have knockout mutations in defined genes. In addition, mice with random, undefined, mutations have been produced by chemical mutagenesis. Cohorts of these mice have been subjected to slit lamp examination and indirect ophthalmoscopy, and are tested for visual function using a virtual optokinetic drum with a computer generated image displayed around the test animal. Further phenotypic characterisation involves histology and use of tissue markers. In order to preserve the three‐dimensional structure of the eye for examination of the vasculature, for example, we are exploring the use of Optical Projection Tomography which images the intact eye and allows reconstruction of eye structure. Results We have identified a number of mouse lines defective in the visual system. These defects include microphthalmia, eyes open at birth, lens, cornea or iris defects, intraocular bleeding, and retinal degeneration. Furthermore, one line exhibits persistent fetal vasculature in the vitreous (PHPV) which normally regresses after birth through the action of resident macrophages. Determining the basis of this phenotype involves analysis of both the embryonic and adult eye, since mice with defective optic‐fissure closure have also been described with this phenotype. Conclusion Characterisation of these mutant lines will enable us to contribute to a more comprehensive understanding of the genetic regulation of eye development and tissue maintenance within the visual system. Many of these mutants are valuable genetic models of human eye diseases.

Case of novel PITX2 gene mutation associated with Peters' anomaly and persistent hyperplastic primary vitreous

Case of novel PITX2 gene mutation associated with Peters' anomaly and persistent hyperplastic primary vitreous

Expression of theArftumor suppressor gene is controlled by Tgfβ2 during development

The Arf tumor suppressor (also known as Cdkn2a) acts as an oncogene sensor induced by ;abnormal' mitogenic signals in incipient cancer cells. It also plays a crucial role in embryonic development: newborn mice lacking Arf are blind due to a pathological process resembling severe persistent hyperplastic primary vitreous (PHPV), a human eye disease. The cell-intrinsic mechanism implied in the oncogene sensor model seems unlikely to explain Arf regulation during embryo development. Instead, transforming growth factor beta2 (Tgfbeta2) might control Arf expression, as we show that mice lacking Tgfbeta2 have primary vitreous hyperplasia similar to Arf(-/-) mice. Consistent with a potential linear pathway, Tgfbeta2 induces Arf transcription and p19(Arf) expression in cultured mouse embryo fibroblasts (MEFs); and Tgfbeta2-dependent cell cycle arrest in MEFs is maintained in an Arf-dependent manner. Using a new model in which Arf expression can be tracked by beta-galactosidase activity in Arf(lacZ/+) mice, we show that Tgfbeta2 is required for Arf transcription in the developing vitreous as well as in the cornea and the umbilical arteries, two previously unrecognized sites of Arf expression. Chemical and genetic strategies show that Arf promoter induction depends on Tgfbeta receptor activation of Smad proteins; the induction correlates with Smad2 phosphorylation in MEFs and Arf-expressing cells in vivo. Chromatin immunoprecipitation shows that Smads bind to genomic DNA proximal to Arf exon 1beta. In summary, Tgfbeta2 and p19(Arf) act in a linear pathway during embryonic development. We present the first evidence that p19(Arf) expression can be coupled to extracellular cues in normal cells and suggest a new mechanism for Arf control in tumor cells.

Incidence of early-onset glaucoma after infant cataract extraction with and without intraocular lens implantation

Aims:To determine the incidence of glaucoma, with onset within 1 year after the date of cataract surgery (early onset) performed in the first year of life, with or without intraocular...

Histopathological characterisation of effects of the mouse Pax6 Leca4 missense mutation on eye development

Mutations in PAX6/ Pax6 lead to a variety of ocular anomalies in humans and mice. The aim of the study was to characterise the ocular abnormalities caused by the missense Pax6 Leca4 mutation and compare them to published observations on Pax6 alleles that are functionally equivalent to Pax6 − null alleles (such as Pax6 Sey and Pax6 Sey-Neu ) and human inherited eye diseases. Ocular features of homozygous Pax6 Leca4 / Leca4 and heterozygous Pax6 Leca4 /+ embryos at E12.5–E18.5, heterozygous Pax6 Leca4 /+ young mice at P18 and heterozygous Pax6 Leca4 /+ adults at 12 weeks were analysed histologically with their wild-type Pax6 +/+ littermates. Homozygous Pax6 Leca4 / Leca4 fetuses died perinatally with no eyes although an optic cup rudiment with pigmented cells developed. Pax6 Leca4 /+ mice were microphthalmic and a range of other severe ocular phenotypes affected both the anterior and the posterior segments. In contrast to Pax6 +/−, the Pax6 Leca4 /+ eyes had no goblet cells in the corneal epithelium, the iris was not hypoplastic and there was no lens-corneal epithelial plug. However, microphthalmia was more severe, corneal vascularisation occurred earlier (during fetal stages), pigmented cells were present in the vitreous and corneal stroma and the ciliary body was malformed or abnormal. These results show that, although Pax6 Leca4 /+ lacked some eye abnormalities commonly seen in Pax6 Sey /+ and Pax6 Sey-Neu /+ eyes, in most respects their eyes were more severely affected. These differences probably reflect both differences between the Pax6 Leca4 and the Pax6 Sey-Neu mutations and differences in modifier gene expression in different genetic backgrounds. The presence of pigmented cells in the cornea is a novel observation. Some Pax6 Leca4 /+ ocular abnormalities were similar to those present in human Peters' anomaly and persistent hyperplastic primary vitreous (PHPV) so Pax6 Leca4 /+ mice provide a useful model for some inherited eye diseases.

Okuläre Veränderungen beim Mikrozephalie-Lymphödem-Chorioretinale-Dysplasie-Syndrom

Microcephaly-lymphoedema-chorioretinal dysplasia (MLCRD) is a rare syndrome characterized by microcephaly, chorioretinal dysplasia, lymphoedema and a characteristic facial phenotype. The exact mode of inheritance is uncertain, autosomal dominant, recessive and X-chromosomal cases have been reported. A three-month-old boy with intrauterine growth retardation and microcephaly was referred to our clinic. The ophthalmic examination revealed a left eye with a persistent hyperplastic primary vitreous. On funduscopy of the right eye pale optic disc, chorioretinal dysplasia with pigmentary and atrophic changes and falciform folds were noted. General morphological changes and ophthalmological findings led to the diagnosis of MLCRD-syndrome. Eye examinations of the parents and the grandparents did not show any retinal changes, therefore an autosomal dominant inheritance was excluded. An ophthalmological examination in children with microcephaly and facial dysmorphies is essential. Parents and grandparents should also be considered for eye examination if a child has chorioretinal dysplasia and microcephaly.

Age at the time of cataract surgery and relative risk for aphakic glaucoma in nontraumatic infantile cataract

To report the relative risk for aphakic glaucoma as a function of age at surgery in infants who underwent cataract surgery before 10 months of age for nontraumatic infantile cataract without microcornea. This was an institutional retrospective case series (January 1985 to February 2003) of children who underwent cataract surgery without intraocular lens implantation for nontraumatic infantile cataract before 10 months of age. Patients with less than 5 years' postsurgical follow-up, microcornea, persistent fetal vasculature, and/or other significant anterior segment abnormality were excluded. The surgical procedure in all cases was lens aspiration, posterior capsulotomy, and anterior vitrectomy with anterior small-incision techniques. Of 210 eyes (121 patients), 55 eyes (26.2%; 31 patients [25.6%]) developed aphakic glaucoma. Relative risk for later aphakic glaucoma as a function of age at the time of surgery decreased from 1.85 (95% CI, 0.88-3.86) at 0-1 months of age to a nadir at 3-4 months of age (0.22 [95% CI, 0.05-0.96]) and then increased again to peak at 3.17 (95% CI, 1.1-9.11) at 5-6 months of age. The lowest relative risk for later aphakic glaucoma in our cohort was for surgery performed at 3-4 months of age, for which the 95% CI remained less than 1.0. Further conclusions are limited by overlapping confidence intervals. However, because of amblyopia issues, we do not recommend delaying congenital cataract surgery beyond 4 weeks of life.

Intraoperative performance and postoperative outcomes of cataract surgery in infant eyes with microphthalmos

To report the intraoperative performance and postoperative outcomes in microphthalmic eyes of infants younger than 1 year having bilateral cataract surgery. Iladevi Cataract & IOL Research Centre, Ahmedabad, India. This prospective observational study excluded eyes with ocular trauma, inflammation, posterior persistent fetal vasculature causing stretching of the ciliary processes or tractional retinal detachment, aniridia, or chorioretinal coloboma. Intraoperative observations included the rate of peripheral extension of the anterior capsule tear, intraoperative iris prolapse/trauma, and posterior capsule tear. All eyes were left aphakic. Postoperative observations included visual outcome, posterior synechias, visual axis obscuration (VAO), and glaucoma. The study evaluated 42 eyes of 21 infants. The mean age at surgery was 4.0 months +/- 2.6 (SD) and the mean follow-up, 25.6 +/-11.3 months. Surgery was performed using the limbal approach in 30 eyes (71.4%) and by pars plicata lensectomy in 12 eyes (28.6%). In the limbal group, 3 eyes (10.0%) had an incomplete anterior capsulorhexis, 2 eyes (6.7%) had iris trauma, and 2 eyes (6.7%) had peripheral extension of the posterior capsulectomy edge. At the final follow-up, visual acuity remained stable in 4 eyes (9.5%) and was improved in 38 eyes (90.5%). The complications were posterior synechias in 15 eyes (35.7%), glaucoma in 13 eyes (30.9%), and VAO in 7 eyes (16.7%). The results suggest that good visual outcomes can be obtained in microphthalmic patients with bilateral congenital cataract after early surgical intervention, with an acceptable rate of serious postoperative complications.

144: Pediatric cataract surgery—management strategies for intra- and postoperative complications

This workshop will present 9 case presentations that demonstrate different hurdles and complications faced during pediatric cataract surgery with and without primary implantation. The case scenarios include posterior lenticonus, persistent fetal vasculature, juvenile idiopathic arthritis-related cataract, chronic inflammation postsecondary IOL, anterior capsular tears, traumatic cataract, postoperative glaucoma, coloboma, and microphthalmos. Each case presentation includes video of surgical strategies with evidence based literature.

Phenotypic Overlap of Familial Exudative Vitreoretinopathy (FEVR) with Persistent Fetal Vasculature (PFV) Caused by FZD4 Mutations in two Distinct Pedigrees

Purpose: To describe a severe familial exudative vitreoretinopathy (FEVR) phenotype seen in infancy that resembles persistent fetal vasculature (PFV) caused by mutations in the FZD4 gene in two pedigrees with high intrafamilial variability. Methods: Three infants presented with features compatible with bilateral PFV. Eye examinations from the affected children and their relatives were reviewed retrospectively (follow-up:18 months-9 years). Mutation screening was performed using direct sequencing of the FZD4, LRP5 and NDP genes. Results: Bilateral retinal folds extending from the optic nerve to the inferotemporal aspect of the lens mimicing PFV were observed in two of the three affected children before the age of two months. The third child was examined at birth, and the avascular peripheral retina treated with diode laser within one week of age, with subsequent arrest of the disease process. A FZD4 mutation, M493_W494del, was identified in one affected child in pedigree 1, and a novel missense mutation, I114T, was detected in 2 affected children in pedigree 2; while no mutations were found in NDP or LRP5 genes in the 3 affected children. In both pedigrees, at least one affected relative was asymptomatic and failed to show the characteristic avascular changes of FEVR. Conclusions: The clinical features in the three children and their relatives with a documented FZD4 mutation support the previous reports of a high degree of intrafamilial and interfamilial variability in FEVR. In extreme cases with very early onset, the development of a retinal fold can mimic PFV, a non-hereditary condition with rare exception.

Bilateral persistent hyperplastic primary vitreous

A case of bilateral persistent hyperplastic primary vitreous (PHPV) in a 3-month-old male infant, who had bilateral leukokoria, is presented. The child was referred for imaging with a clinical suspicion of retinoblastoma. Gray-scale ultrasound evaluation revealed an echogenic band in the posterior segment of both globes, extending from the posterior surface of the lens capsule to the optic disc. Doppler examination revealed the presence of arterial flow in the band in both globes. Associated echogenic hemorrhage was also seen, which was confirmed by computed tomography. Most cases of PHPV are sporadic and unilateral, and bilateral PHPV is rare. The imaging features in this case suggest the diagnosis of bilateral PHPV and differentiate it from retinoblastoma. This entity, although infrequent, should be considered in the differential diagnosis while evaluating bilateral leukokoria.

A Novel NDP Mutation in an Infant with Unilateral Persistent Fetal Vasculature and Retinal Vasculopathy

Background : Mutations in the Norrie Disease gene, Norrie Disease Pseudoglioma (NDP) lead to a phenotypically heterogeneous group of retinopathies. We report a novel mutation in the NDP gene identified in a patient whose clinical presentation was suggestive of unilateral persistent fetal vasculature (PFV). Materials and Methods : Ophthalmic examinations, ocular ultrasounds and sequence analysis of the exons of the NDP gene on peripheral blood DNA were performed. Results : A four-month-old boy was referred to our institution for presumed unilateral retinoblastoma. The clinical and ultrasonographic exams were consistent with PFV and retinal detachment of the left eye as well as retinal fibrovascular changes in the right eye. A vitrectomy of the left eye revealed the absence of a retrolenticular stalk and mutation analysis of the NDP gene of the proband and mother demonstrated a novel missense mutation at codon 66, designated as c. 196G > A at the cDNA level and E66K at the protein level. Conclusion : We report a novel mutation in the NDP gene in a patient whose presentation demonstrates the phenotypic heterogeneity of NDP-related disorders.

An essential role for frizzled 5 in mammalian ocular development

Microphthalmia, coloboma and persistent fetal vasculature within the vitreous cavity are among the most common human congenital ocular anomalies, and each has been associated with a variety of genetic disorders. Here we show that, in the mouse, loss of frizzled 5 (Fz5) - a putative Wnt receptor expressed in the eye field, optic cup and retina - causes all of these defects with high penetrance. In the developing Fz5(-/-) eye, the sequence of defects, in order of appearance, is: increased cell death in the ventral retina, delayed and/or incomplete closure of the ventral fissure, an excess of mesenchymal cells in the vitreous cavity, an excess of retinal astrocyte precursors and mature astrocytes, and persistence of the hyaloid vasculature in association with a large number of pigment cells. Fz5(-/-) mice also exhibit a late-onset progressive retinal degeneration by approximately 6 months of age, which might be related to the expression of Fz5 in Müller glia in the adult retina. These results demonstrate a central role for frizzled signaling in mammalian eye development and are likely to be relevant to the etiology of congenital human ocular anomalies.

A Nonautonomous Role for Retinal Frizzled-5 in Regulating Hyaloid Vitreous Vasculature Development

Frizzled-5 (Fzd5) is expressed in the developing retina of multiple species and appears to play species-specific roles during eye development. The present study analyzed the effects of tissue-specific deletion of Fzd5 on mammalian eye development. To generate Fzd5 conditional knockout (CKO) mice, Fzd5(+/-) mice carrying the Six3-Cre transgene were crossed with Fzd5(LoxP/LoxP) mice. To determine which cell lineages in the eye had Cre recombinase activity, Six3-Cre transgenic mice were crossed with ROSA-26 reporter mice, and lacZ activity was assayed. Histologic analysis, immunofluorescence, and TUNEL labeling were performed from embryonic day (E)12.5 to postnatal stages to analyze vascularization, cell proliferation, retinal organization, and apoptosis. On conditional disruption of Fzd5 specifically in the retina, but not in vitreous hyaloid vasculature (VHV), an abnormal accumulation consisting of pericytes and endothelial cells was observed in the vitreous as early as E12.5. The abundant retrolental cells persisted into postnatal stages and appeared as a pigmented intravitreal mass. In Fzd5 CKO mice there was failure of normal apoptosis of the VHV, and cells in the persistent VHV were maintained in the cell cycle up to postnatal day 23. Moreover, morphogenesis of the retina adjacent to the vasculature was disrupted, leading to retinal folds, detachment, and abnormal lamination. This phenotype is similar to that of human eye disease persistent hyperplastic primary vitreous (PHPV). Selective loss of Fzd5 in the retina results in PHPV and retinal defects through an apparently cell-nonautonomous effect, revealing a potential requirement for retina-derived signals in regulating the development of the VHV.

Netzhautablösung im Kindesalter: Differenzialdiagnose und aktuelle Therapieoptionen

The number of retinal detachments in children is very low in comparison to the number of retinal detachments in adults, only 3.2 - 6.6% occur in children. The main predisposing factors are trauma, associated conditions, myopia and retinopathy of prematurity (ROP) i. e., stage 4 and 5 and late stage of ROP. Furthermore, retinal detachment in children can be idiopathic. These eyes are not associated with any identified ocular or systemic comorbidity. Associated conditions include hereditary vitreoretinal disorders (e. g., morbus Stickler, X-linked juvenile retinoschisis, Marfan syndrome, familiär exsudative vitreoretinopathy), malformations (e. g., persistent hyperplastic primary vitreous, coloboma) and retinal detachment following cataract surgery. In a few cases retinal detachment is caused by uveitis and by Coats disease. Delayed presentation and proliferative vitreoretinopathy are a common problem and in most eyes primary pars plana vitrectomy is necessary. It is important to perform consequent postoperative follow-up. The functional and anatomic outcomes of retinal detachment in children are less successful than in adults. Further surgical innovations and aetiology-specific treatment strategies are required to improve the outcome in this group. Recent results show that the intravitreal use of VEGF inhibitors to treat proliferative retinopathy (ROP) in children is effective, but we need further information about safety and side-effects.

Ophthalmological Aspects of Pierson Syndrome

To study the ocular phenotype of Pierson syndrome and to increase awareness among ophthalmologists of the diagnostic features of this condition. Retrospective, observational case series. A multicenter study of 17 patients with molecularly confirmed Pierson syndrome. The eye findings were reviewed and compared to pertinent findings from the literature. The most characteristic ocular anomaly was microcoria. A wide range of additional abnormalities were found, including posterior embryotoxon, megalocornea, iris hypoplasia, cataract, abnormal lens shape, posterior lenticonus, persistent fetal vasculature, retinal detachment, variable axial lengths, and glaucoma. There was high interocular and intrafamilial variability. Loss-of-function mutations in laminin beta2 (LAMB2) cause a broad range of ocular pathology, emphasizing the importance of laminin beta2 in eye development. Patients with Pierson syndrome can initially present with ocular signs alone. In newborns with marked bilateral microcoria, Pierson syndrome should be considered and renal function investigated.