Peter’s anomaly

  • 文章类型: Journal Article
    单基因综合征常以眼部表现为特征,其中之一是青光眼。在许多情况下,儿童青光眼可能未被发现,特别是那些有其他严重的全身状况,影响眼睛和身体的其他部位。同样,青光眼可能是全身性综合征的第一个表现。因此,对与青光眼相关的综合征的认识对于医学遗传学家和眼科医生都至关重要。在这次审查中,我们重点介绍了以青光眼和其他眼部或全身表现为特征的六类疾病:眼前节发育不全综合征,无虹膜,代谢紊乱,胶原/血管疾病,免疫遗传学疾病,和纳米眼球。遗传学,眼部和全身特征,并讨论了当前和未来的治疗策略。罕见疾病的发现还揭示了可能与更常见形式的青光眼有关的重要基因和途径,以及针对这些途径的潜在新治疗策略。
    Monogenic syndromic disorders frequently feature ocular manifestations, one of which is glaucoma. In many cases, glaucoma in children may go undetected, especially in those that have other severe systemic conditions that affect other parts of the eye and the body. Similarly, glaucoma may be the first presenting sign of a systemic syndrome. Awareness of syndromes associated with glaucoma is thus critical both for medical geneticists and ophthalmologists. In this review, we highlight six categories of disorders that feature glaucoma and other ocular or systemic manifestations: anterior segment dysgenesis syndromes, aniridia, metabolic disorders, collagen/vascular disorders, immunogenetic disorders, and nanophthalmos. The genetics, ocular and systemic features, and current and future treatment strategies are discussed. Findings from rare diseases also uncover important genes and pathways that may be involved in more common forms of glaucoma, and potential novel therapeutic strategies to target these pathways.
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  • 文章类型: Case Reports
    BACKGROUND: Peter\'s anomaly is a rare congenital anterior segment dysgenesis with poor visual results. This case report describes a case of bilateral Type II Peter\'s anomaly with notable clinical and histopathological features.
    METHODS: A 7-year-old boy was admitted to our center with complaints of bilateral central opacification, photophobia and severe reduced vision since birth. He underwent phacoemulsification, intraocular lens (IOL) implantation and anterior vitrectomy on the right eye in another medical institution two years ago. Slit lamp examination revealed bilateral central corneal opacity, few strands of peripheral iris, irregular pupils and cloudy lens with central adhesion to posterior corneal surface in the left eye. Additionally, a history of premature birth and mental retardation was also noted. The patient was diagnosed with Peter\'s anomaly in the left eye, pseudophakia in the right eye and bilateral amblyopia. Similar surgery to the right one was performed on the left eye. A vesicle-like structure was found in the anterior chamber intraoperatively, which was composed mainly of immature lens and some corneal stroma as revealed by postoperative histopathological examinations.
    CONCLUSIONS: The exact mechanism of Peter\'s anomaly is not completely understood, however, the notable histopathological features of tissue obtained from the present case may provide evidence to the hypothesis of developmental anomalies.
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  • 文章类型: Journal Article
    OBJECTIVE: Pediatric keratoplasty is an immense challenge because of the technical complexity of the procedure and the high risk of rejection in young graft recipients. Our aim is to describe the major indications and appropriate timing of corneal transplantation intervention, including a report of our experience and surgical tips, in conjunction with the current literature.
    METHODS: Review of the literature on indications for keratoplasty in pediatric patients classified as: congenital, traumatic and acquired non-traumatic opacities. We additionally explored the challenges corneal surgeons face in performing this type of surgery and review the most pressing transplant-related problems and their management.
    RESULTS: Outcomes after pediatric keratoplasty, in terms of visual development, restoration and clarity of the graft, are influenced by peri-operative local and systemic conditions and factors, and by intraoperative management of the transplantation procedure itself.
    CONCLUSIONS: Pediatric corneal transplantation is a critical tool for visual restoration and development in young patients with corneal opacities, particularly during the critical period of visual development. Successful management of the significant challenges associated with pediatric keratoplasty requires customized clinical and surgical management of each patient with particular attention paid to proper post-operative rehabilitation.
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