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Biomedical subjects

Antonio Capone

Publications and source records attributed to Antonio Capone.

At least 19 recordsLinked to original sources

Cigarette smoking, CFH, APOE, ELOVL4, and risk of neovascular age-related macular degeneration.

OBJECTIVE: To examine if the genes encoding complement factor H (CFH), apolipoprotein E (APOE), and elongation of very-long-chain fatty acids-like 4 (ELOVL4) confer risk of neovascular age-related macular degeneration (AMD) in an independent or interactive manner when controlling for smoking exposure. METHODS: We studied 103 unrelated patients with neovascular AMD who each had at least 1 sibling with normal maculae. Smoking histories were obtained. Genotyping was performed by analyzing amplified genomic fragments from CFH, APOE, and ELOVL4 by direct sequencing or by restriction endonuclease digests. Conditional logistic regression analysis was used to build a multifactor model. RESULTS: For CFH, only the CC genotype carried a statistically significant elevation of disease risk (odds ratio, 49.37; 95% confidence interval, 6.20-393.22; P<.001). No significant association was observed between neovascular AMD and APOE or ELOVL4. No significant interactions were found between smoking and having the CFH or APOE genotype nor were significant interactions found between the CFH, ELOVL4, and APOE genotypes. CONCLUSIONS: Smoking and having the CFH CC genotype independently increase risk of neovascular AMD. APOE and ELOVL4 genotypes do not seem to modify risk. CLINICAL RELEVANCE: Smoking 10 pack-years or more and having the CFH CC genotype increase one's risk of neovascular AMD 144-fold compared with smoking less than 10 pack-years and having the CT or TT genotype.

Adult↗

Outcome of eyes developing retinal detachment during the Early Treatment for Retinopathy of Prematurity Study (ETROP).

OBJECTIVE: To report the structural and visual outcomes of eyes in which retinal detachment developed from retinopathy of prematurity (ROP) in the Early Treatment of Retinopathy of Prematurity (ETROP) Study. Method Infants in the ETROP Study with bilateral high-risk prethreshold ROP had 1 eye randomized to early treatment, with the fellow eye managed conventionally. In infants with asymmetric disease, the eye with high-risk prethreshold ROP was randomized to early treatment or conventional management. When a retinal detachment was detected, observation or vitreoretinal surgery (ie, scleral buckling and/or vitrectomy) was provided at the discretion of the individual investigator. At 9 months corrected age, retinal examinations were performed and visual acuities were assessed by masked testers using grating acuity. RESULTS: The ETROP Study enrolled 401 patients with high-risk prethreshold ROP. Retinal detachments occurred in 89 eyes of 63 patients. Follow-up was available for 78 eyes of 56 patients. The detachments were bilateral in 21 patients (38%) and were classified as stage 4A in 30 eyes, stage 4B in 14 eyes, and stage 5 in 16 eyes. Detachments were not classified in 18 eyes. Twelve eyes of 11 patients were observed and 66 eyes of 52 patients underwent vitreoretinal surgery. Attachment of the macula at 9 months persisted or was achieved in 17 (30%) of 56 eyes after vitrectomy with or without scleral buckle, in 6 (60%) of 10 eyes after scleral buckle only, and in 2 (17%) of 12 eyes followed up without surgery. Favorable visual acuity (> or =1.85 cycles/degree) was found in 13 (17%) of the 78 eyes. All 6 eyes that maintained normal visual acuity (> or =3.70 cycles/degree) had a stage 4A detachment (1 of 6 managed by observation, 3 of 6 by scleral buckle, and 2 of 18 by vitrectomy). Eleven eyes with stage 5 detachment underwent vitreoretinal surgery, resulting in 6 with no light perception, 3 with light perception only, and 2 with detection of only the low vision card. CONCLUSIONS: In the ETROP Study, the outcome of retinal detachment owing to ROP was generally poor. Vitreoretinal surgery for retinal detachment was associated with macular attachment in 16 of 48 eyes. Normal acuity was maintained after surgical repair of stage 4A retinal detachment in 5 (21%) of 24 eyes. Vitreoretinal surgery for stage 5 disease was associated with some structural successes but poor functional outcomes.

Cryosurgery↗

Optical coherence tomography findings in stage 4A retinopathy of prematurity: a theory for visual variability.

PURPOSE: To report macular anatomic abnormalities in eyes with stage 4A retinopathy of prematurity (ROP) that may account for poor visual outcome despite an ophthalmoscopically normal-appearing posterior pole. DESIGN: Retrospective case series. PARTICIPANTS: Nine patients (14 eyes). METHODS: Nine patients (14 eyes) diagnosed with stage 4A retinal detachments were imaged with optical coherence tomography (OCT) before repair by lens-sparing pars plana vitrectomy. One patient (2 eyes) 2 years after successful lens-sparing vitrectomy for stage 4A detachment with reduced visual acuity underwent fluorescein angiography, fundus photography, and imaging with OCT. MAIN OUTCOME MEASURE: Optical coherence tomography findings. RESULTS: Preoperative OCT confirmed absence of macular involvement in 12 of 14 eyes. Two eyes demonstrated diffuse intraretinal posterior pole changes. Both eyes of a 2-year-old infant demonstrated a lack of normal foveal architecture on OCT scanning and an absent foveal avascular zone on angiography. CONCLUSIONS: Anatomic macular abnormalities--not immediately apparent ophthalmoscopically--may explain the variability in visual outcome after lens-sparing vitrectomy for stage 4A ROP.

Diagnostic Techniques, Ophthalmological↗

Genetic evaluation to establish the diagnosis of X-linked familial exudative vitreoretinopathy.

PURPOSE: To determine the usefulness of genetic analysis for confirming the diagnosis of X-linked familial exudative vitreoretinopathy (FEVR) and verifying the mode of inheritance. METHODS: Twenty-seven consecutive patients diagnosed with FEVR were enrolled for genetic analysis. All patients underwent dilated fundus examination. A complete birth, medical, and family history was obtained at the time of examination. Patients were categorized by gender and family history in an effort to identify X-linked FEVR. Participants provided a blood sample for analysis and were evaluated for a mutation in the Norrie's disease gene (NDP) by direct sequencing. RESULTS: Of the 27 enrolled patients, four male patients had a pedigree consistent with X-linked inheritance and 12 male patients had little or no family history. Two of these 16 patients were found to have a missense mutation in the NDP gene. CONCLUSIONS: We found genetic testing of NDP to be helpful in confirming the diagnosis of X-linked FEVR in male patients, especially when limited family history was available. As genetic diagnostics improve, we feel that confirming diagnoses and informing patients better through genetic evaluation and consultation will become more useful in the clinical practice of ophthalmology.

DNA Mutational Analysis↗

Intraschisis cavity fluid composition in congenital X-linked retinoschisis.

PURPOSE: To describe the intraschisis cavity protein composition in congenital X-linked retinoschisis (CXLRS) from two eyes of one child. METHODS: The authors present a child with complex, Type 3 CXLRS who underwent bilateral surgical repair with autologous plasmin enzyme-assisted lens-sparing vitrectomy. Undiluted samples of intraschisis fluid and vitreous fluid from two eyes (one child) were obtained and used for protein analysis. RESULTS: The patient underwent successful schisis repair with plasmin-assisted lens-sparing vitrectomy and silicone oil. Two unique protein bands were identified in the intraschisis cavity sample of each eye by gel electrophoresis. The proteins were identified as tenascin-C, an extracellular matrix protein involved in wound healing, and cystatin C, a ubiquitous cysteine protease inhibitor implicated in inflammation. CONCLUSIONS: Tenascin-C has previously been described in its complex relationship with decorin and fibronectin in normal wound healing. Tenascin's upregulation in sites of inflammation and tenascin's role as an antiadhesive molecule may contribute to the pathogenesis of CXLRS. To the authors' knowledge, this is the first description of intraschisis cavity fluid.

Biomarkers↗

Posterior hyaloid contracture in pediatric vitreoretinopathies.

BACKGROUND: Retinal detachment in pediatric vasoproliferative disorders such as retinopathy of prematurity (ROP) and familial exudative vitreoretinopathy (FEVR) have an exudative and tractional component. Younger eyes have an especially adherent posterior hyaloid. Contraction of the posterior hyaloid interface may lead to tractional retinal detachment. METHODS: Retrospective chart review of six eyes (four ROP, two FEVR) with diffuse contraction of the posterior hyaloid resulting in retinal detachment. Fundus photographs and optical coherence tomography findings (one eye) are presented. RESULTS: Diffuse proliferation along the posterior hyaloid required extensive lamellar dissection at times aided by autologous plasmin enzyme. A diffuse, taut posterior hyaloid resulted in marked tractional component to retinal detachment. CONCLUSIONS: Recognition of hyaloid contracture will aid in the proper diagnosis and surgical planning and repair of eyes with pediatric vasoproliferative disorders.

Adolescent↗

Congenital X-linked retinoschisis classification system.

PURPOSE: To establish a classification system for congenital X-linked retinoschisis (CXLRS) using clinical examination and optical coherence tomography (OCT). METHODS: Thirty-eight eyes of 19 patients who carried a clinical diagnosis of CXLRS were examined with OCT and clinical examination. Eyes were classified into one of four types based on a combination of clinical examination and OCT. RESULTS: All patients had bilateral OCT scanning performed at an average age of 8.64 years (range 2.24-17.4 years). Review of OCT scans revealed that 37 of 38 eyes had foveal schisis (97%) while 31 of 38 (82%) eyes had macular schisis deeper than the nerve fiber layer in areas of ophthalmoscopically normal macular retina. The authors termed this flat schisis phenomenon lamellar schisis. Thirty of 38 (79%) had peripheral bullous schisis cavities present. CONCLUSIONS: OCT examinations of patients with CXLRS reveal lamellar schisis in areas of ophthalmoscopically normal macular retina in 82% of eyes with the clinical diagnosis of CXLRS. Using both clinical examination and OCT, the authors were able to identify foveal, lamellar, and peripheral schisis, lamellar schisis only identifiable by OCT. These findings allow the authors to propose a classification system. The authors hope this classification system will allow a better understanding of the natural history of CXLRS disease and allow testing of therapeutic options.

Adolescent↗

The Photographic Screening for Retinopathy of Prematurity Study (Photo-ROP): study design and baseline characteristics of enrolled patients.

OBJECTIVE: The Photographic Screening for Retinopathy of Prematurity Study (Photo-ROP) sought to evaluate the utility of digital wide-angle photographic fundus screening for retinopathy of prematurity (ROP) as compared to bedside indirect ophthalmoscopy. This article describes the study design and presents baseline characteristics of the subjects. DESIGN: Prospective, multicenter, masked, Internet-based clinical trial. PARTICIPANTS: Premature infants <31 weeks postmenstrual age at birth and <1000 g birthweight. INTERVENTIONS: Examinations began at 31 weeks postmenstrual age or 4 weeks postnatal age, whichever was later. Both eyes of all infants were imaged with a panoramic fundus imaging system followed by indirect ophthalmoscopic fundus examination. Images were transmitted via Internet to the Reading Center for interpretation by masked graders. Clinical interpretations based on indirect ophthalmoscopy were recorded for comparison with the Reading Center determinations. Examinations were performed weekly for 10 weeks or until an infant was discharged from the hospital. MAIN OUTCOME MEASURE: Sensitivity, specificity, and positive and negative predictive values of Reading Center image interpretations were compared to clinical impressions based on bedside indirect ophthalmoscopy. RESULTS: Enrollment began in February 2001 and was completed in February 2002. The target number of infants was 50, and 62 were enrolled. Of those enrolled, 51 infants (102 eyes) were considered eligible, and are the subject of this article. Mean postmenstrual age (+/- SD) at time of delivery was 26.80 +/- 1.73 weeks (median = 26.86 weeks, interquartile range [IQR] = 2.43 weeks). Mean postmenstrual age at first examination (+/- SD) was 32.19 +/- 2.86 weeks (median = 31.71 weeks, IQR = 2.29 weeks). Mean birthweight (+/- SD) was 830.51 +/- 219.57 g (median = 817 g, IQR = 225 g). Female infants comprised 49.02% of the patients. Race distribution was as follows: white 45.10%, African or black 39.22%, Hispanic 3.92%, Asian 9.80%, and other races 1.96%. Mean follow-up (+/- SD) was 5.73 +/- 3.22 weeks (median = 6 weeks, IQR = 5, range = [1, 15]). CONCLUSIONS: The Photo-ROP Study Cooperative Group successfully recruited and enrolled at-risk premature infants into a longitudinal, prospective clinical trial comparing two different diagnostic approaches. Technology employed in this study is comparable to that currently available. Design issues for this trial included establishing the information technology infrastructure for an ROP study based on digital imaging, defining the study endpoints, estimating event rates, defining a standardized imaging protocol, and defining standards for interpretation of image quality and clinical findings.

Canada↗

Retinopathy of prematurity and anterior segment complications.

The management of retinopathy of prematurity (ROP) has changed over the last 20 years. Screening and treatment protocols have been established to provide timely therapy to infants at risk. Cryotherapy, laser photoablation, vitrectomy, and scleral buckling have proven effective but also have inherent risks of complications. The anterior segment complications related to ROP therapy are presented herein.

Anterior Eye Segment↗

Visual outcomes after lens-sparing vitrectomy for stage 4A retinopathy of prematurity.

PURPOSE: To assess the visual outcomes of patients with stage 4A retinal detachments (RDs) from retinopathy of prematurity (ROP). DESIGN: Retrospective review of a consecutive case series of children referred to the pediatric retina service of Associated Retinal Consultants, Royal Oak, Michigan. PARTICIPANTS: Forty-five eyes of 39 children. METHODS: The stage of RD for each patient was determined during an examination under anesthesia. All patients underwent a lens-sparing pars plana vitrectomy (PPV) with membrane peeling. Postoperative anatomic status was determined by ophthalmoscopy either during an office examination or during an examination under anesthesia. Visual outcomes were ascertained by consulting pediatric ophthalmologists using either Teller or Allen acuities. MAIN OUTCOME MEASURES: Anatomic and visual outcomes. RESULTS: Formalized visual acuity (VA) measurement was performed in 23 eyes of 20 children, and was not performed in 22 eyes of 19 children. All 23 eyes that were formally tested had successful retinal reattachment. The macula appeared to be normal and without distortion in 19 of 23 eyes (83%) during the follow-up period. Average logarithm of the minimum angle of resolution VA was 20/58. Three eyes had acuities of 20/200, and 4 had acuities of 20/100. All other eyes were 20/80 or better. Average age at time of VA was 3.51 years. CONCLUSIONS: Patients with ROP and stage 4A RDs can be treated successfully with respect to anatomic and visual outcome utilizing lens-sparing PPV.

Gestational Age↗

Lens-sparing vitreous surgery for infantile amblyogenic vitreous hemorrhage.

PURPOSE: To report on a series of infants with amblyogenic vitreous and/or subinternal limiting membrane hemorrhage managed by lens-sparing vitrectomy. DESIGN: Retrospective case series studying retinal attachment status and visual acuity. RESULTS: Eleven eyes sustained vitreous hemorrhage as a consequence of shaken baby syndrome, 1 due to hyaloidal canal hemorrhage extending into the vitreous, 1 due to Terson syndrome, 1 due to birth trauma, and 2 due to a presumed coagulation disorder. Age of the patients at the time of surgery ranged from 2 to 23 months (age adjusted for prematurity). Follow-up ranged from 7 to 81 months (mean, 28 months). Ten eyes had visual improvement. Two infants with shaken baby syndrome had bilateral nonrecordable flash visual evoked potential before surgery; one eye of one infant had a better than expected visual outcome after surgery. One eye sustained a retinal tear without detachment. One eye in an infant with severe shaken baby syndrome and traumatic retinopathy developed a total rhegmatogenous retinal detachment with proliferative vitreoretinopathy. CONCLUSIONS: Infantile amblyogenic vitreous hemorrhage may be effectively managed by lens-sparing vitreous surgery. Visual outcome of shaken baby syndrome may be limited as a consequence of structural damage to the retina, optic nerve, or posterior visual pathways.

Amblyopia↗