Posterior Persistent Hyperplastic Primary Vitreous Research Articles

Surgical treatment and visual outcomes of cataract with persistent hyperplastic primary vitreous.

To evaluate the surgical treatment and visual outcomes of eyes with cataract and persistent hyperplastic primary vitreous (PHPV). This retrospective study included patients with cataract and PHPV treated with various strategies. Anterior PHPV was treated using phacoemulsification with underwater electric coagulation on posterior capsule neovascularization, posterior capsulotomy, anterior vitrectomy, and intraocular lens (IOL) implantation. Posterior PHPV was treated with lensectomy, posterior vitrectomy, retinal photocoagulation, and IOL implantation or silicone oil tamponade. Visual acuity (VA), pattern visual evoked potential (P-VEP), anatomic recovery, postoperative complications, and amblyopia outcome were examined. Subjects were followed-up for 3-48mo after surgery. Of the 30 patients (33 eyes) with congenital cataract and PHPV included (average age, 39.30±35.47mo), 9 eyes had anterior PHPV and 24 had posterior PHPV. Thirty-two eyes were surgically treated. Eyes with anterior PHPV received an IOL during one-stage (6 eyes) and two-stage (3 eyes) implantation. Postoperative complications included retinal detachment (1 eye) and recurrent anterior chamber hemorrhage (1 eye). In eyes with posterior PHPV, 6 and 11 eyes received IOLs in one- and two-stage procedures, respectively. Silicone oil was retained in 2 eyes, and IOLs were not implanted in 4 eyes. VA significantly improved in 25 eyes following operations and 3-48mo of amblyopia treatment. P-VEP P100 was improved following surgery in both PHPV types. Our surgical strategies are appropriate and effective for anterior and posterior PHPV. Early surgical intervention and amblyopia therapy result in positive treatment outcomes.

Persistência de vítreo primário hiperplásico posterior

Report of a case of posterior persistent hyperplastic primary vitreous (PHPV) case on a nine years old patient with low visual acuity on the left eye, referred by the school for ophthalmic evaluation. The PHPV can embrace a wide spectrum of ocular alterations involving retina, vitreous, optic nerve, macula, crystalline, iris and ciliary body besides anomalies like mycroftalmia and microcornea. We point out the importance of early ocular evaluation in children, late diagnosis and late treatment, in order to minimize [...]

Phenotypic Spectrum of FZD4 Mutations

Introduction: The Wnt pathway was recently implicated in cases of familial exudative vitreoretinopathy (FEVR). In 2002, we identified the first mutated gene in this pathway, FZD4, causing a human disease in a large family with the autosomal-dominant form of FEVR. Since this discovery, we have been interested in describing the full range of the phenotype caused by FZD4 mutations, including testing for genotype–phenotype associations. Methods: Patients with clinical features within the phenotypic spectrum of FEVR were invited to participate. DNA was used for direct sequencing of the coding regions of the two FZD4 exons. Phenotypic information was acquired from eye examination or chart review. Results: Two separate pedigrees were identified with distinct causal mutations: one with a M493_W494del, and the other with a I114T missense mutation. The proband in each pedigree had severe bilateral fundus anomalies consisting of an optic nerve fibrovascular stalk with attachments to the inferotemporal lens and retinal dysplasia. Other family members carrying the same mutation within each of these pedigrees were asymptomatic with minimal fundus anomalies. Discussion: FZD4 mutations can be associated with retinal dysplasia and features that overlap with posterior persistent hyperplastic primary vitreous (PHPV). This severe phenotype is not mutation specific, as other family members with the same mutation can manifest the mildest form of FEVR. Conclusions: Bilateral posterior PHPV-like features are part of the FEVR spectrum and, in the absence of a family history, this phenotype should prompt screening of the parents and siblings for clinical and molecular identifiers of FEVR.

Long-Term Visual Function and Relative Amblyopia in Posterior Persistent Hyperplastic Primary Vitreous (PHPV)

Background: Favorable results in the management of PHPV, made possible by improved surgical techniques, are described in the literature. However, the functional results are in general in the low-vision sector (rarely better than 0.025–0.1 maximum). Purpose: To introduce long-term acuity results and estimate the relative amblyopia in early operated PHPV. Material and Methods: Six patients suffering from PHPV of varying degrees (posterior polar cataract, posterior lenticonus, traction and malformation of the optic nerve head and macula region, persistent vitreous vessels) underwent pleoptic treatment after surgery (lentectomy in all, additional stalk-cutting in three cases) at the age of 3 to 7 months. The patients were followed up to age 7 to 12 years. Visual acuity was assessed by Landolt ring single and closely interspaced linear optotypes (C-Test developed by Haase/Hohmann). Results: Compliance with the amblyopia treatment was good in five patients. Visual acuity (VA) improvement in the affected eye could be seen up to early school age (6–8 years). Final VA outcome was 0.1 (minimum) to 0.7 (maximum) with single optotypes. VA for crowded optotypes was maximum 1 octave below single optotype VA. The visual development of the phakic eye was not delayed, i.e. not disturbed by long-term patching. Discussion: Compliance with amblyopia treatment and long-term visual acuity in the cases presented here are even more favorable than described in the literature. As the amount of crowding is small, we conclude that there is little relative (additional) amblyopia and that the functional outcome is limited only by the degree of ocular malformation. Surgical treatment in comparable cases is encouraged.

Surgical results of persistent hyperplastic primary vitreous

Purpose To evaluate the surgical success of patients with persistent hyperplastic primary vitreous (PHPV) and to identify preoperative indicators of visual outcome. Design Noncomparative case series. Methods The diagnosis of PHPV was made in 35 eyes of 27 patients from 1982 to 1994. In each case, anterior and/or posterior PHPV findings, preoperative testing, surgical procedures, and visual outcomes were documented. Twenty-nine of 35 eyes were managed surgically. Follow-up ranged from 2 months to 12 years. Results Of the 35 eyes, 2 (5.7%) had strictly anterior PHPV, 8 (22.9%) had strictly posterior PHPV, and 25 (71.4%) had components of both anterior and posterior disease. Initial lensectomy and vitrectomy was performed in 24 eyes (68.6%). Surgery was withheld in four eyes secondary to severity of disease with an unrecordable visual-evoked potential (VEP). Reoperation rate was 32.3% for membrane reproliferation, glaucoma, vitreous hemorrhage, retinal detachment, or strabismus. Best-corrected final visual acuity ranged from 20/60 to no light perception. Six eyes (17%) maintained Snellen visual acuity despite posterior PHPV with some degree of retinal dysplasia. Conclusions Surgical treatment of PHPV can result in functional visual outcome despite posterior segment involvement. The degree of ocular malformation, however, will ultimately limit the amount of visual improvement. Preoperative testing, including VEP, may aid in determining surgical candidates.

Visual outcomes following lensectomy and vitrectomy for combined anterior and posterior persistent hyperplastic primary vitreous.

To determine the visual outcome after surgery for persistent hyperplastic primary vitreous using modern vitreoretinal techniques. Retrospective medical record review during a 5-year period (June 1992 to June 1997). Information recorded for each patient included age, medical history, sex, results of preoperative ocular examination, age at diagnosis, procedure performed, intraoperative and postoperative complications, location and number of sclerotomy sites, type of aphakic rehabilitation, amblyopic therapy given, final visual acuity, and length of follow-up. Fourteen patients who underwent surgical management of combined anterior and posterior persistent hyperplastic primary vitreous were identified. Eleven patients underwent aphakic rehabilitation and aggressive amblyopic therapy consisting of occlusive therapy for several waking hours each day. One additional older patient received aphakic rehabilitation only. Ten eyes (71%) achieved a visual acuity of 20/300 or better, and 8 (57%) obtained a final visual acuity of 20/100 or better. Average length of follow-up was 22 months (range, 4-57 months). Nine patients were fitted with an aphakic soft contact lens, 2 older patients had a posterior chamber intraocular lens placed at the time of vitrectomy, and 1 patient wore aphakic spectacles. With modern vitreoretinal techniques, aphakic rehabilitation, and aggressive amblyopic therapy, useful vision can be obtained in the majority of patients with combined anterior and posterior persistent hyperplastic primary vitreous.

Results of Treatment of Persistent Hyperplastic Primary Vitreous

The records of 48 patients with persistent hyperplastic primary vitreous (PHPV) were reviewed. Approximately 17% had vision of 20/100 or better after surgery, contact lens fitting, and amblyopia therapy. Only eyes with a purely anterior presentation had successful visual outcomes. Lensectomy alone prevented glaucoma, but a membranectomy as well was required to ensure a successful visual result. Eyes with a posterior PHPV had poor visual results because of posterior pole abnormalities. I recommend that an attempt be made to visually salvage eyes with an anterior presentation. Eyes with a posterior or a combination anterior-posterior PHPV can be successfully treated for glaucoma, but the visual results will be poor.

Morning Glory Syndrome: A Functional Analysis Including Fluorescein Angiography, Ultrasonography, and Computerized Tomography

The Morning Glory syndrome (MGS) is a congenital optic nerve anomaly that has received scant attention since first described by Handmann in 1929. We studied ten eyes and eight patients displaying variations of the syndrome. We found that the syndrome may be bilateral, hereditary, and associated with other congenital anomalies. When bilateral, visual function was only moderately disturbed. The anomaly is usually limited to the eye, and the retrobulbar nerve and brain appear normal, as documented by ultrasound and computed tomography. Surprisingly, increasing fibrovascular tissue produces traction on the disc substance and vasculature, vitreous, macula, and peripapillary retina. These findings may place these patients within a spectrum of congenital optic nerve anomalies ranging from staphylomata to posterior persistent hyperplastic primary vitreous.