Abstract:PurposeMPPC syndrome has been described as a syndrome that presents with chorioretinal coloboma, posterior megalolenticonus, persistent fetal vasculature, and chorioretinal coloboma. The purpose of our study is to report three patients who present with a variation of MPPC syndrome who each underwent pars plana vitrectomy, pars plana lensectomy, and amblyopic management. Clinical characteristics, ancillary test findings, and post-surgical functional results are compared to what is reported in the literature.Met… Show more
“…In humans, failure of the hyaloid system to regress causes persistent fetal vasculature, a blinding disorder characterized by remnants of the hyaloid system in the eye at birth (Promelle et al, 2020). There have been rare cases of patients presenting with both persistent fetal vasculature and coloboma, suggesting there might be a shared etiology or a cause‐and‐effect relationship between these two processes (Graziano et al, 2017; Ranchod et al, 2010; Rothfield et al, 2019; Takkar, Chandra, Kumar, & Agrawal, 2016; Weiner & Nudleman, 2019). The lobes of the choroid fissure and the developing hyaloid vasculature come into contact prior to closure of the fissure, suggesting that the hyaloid vessels may act as a scaffold that is necessary for choroid fissure closure (Eckert, Knickmeyer, & Heermann, 2020).…”
Ocular coloboma is a congenital disorder of the eye where a gap exists in the inferior retina, lens, iris, or optic nerve tissue. With a prevalence of 2-19 per 100,000 live births, coloboma, and microphthalmia, an associated ocular disorder, represent up to 10% of childhood blindness. It manifests due to the failure of choroid fissure closure during eye development, and it is a part of a spectrum of ocular disorders that include microphthalmia and anophthalmia. Use of genetic approaches from classical pedigree analyses to next generation sequencing has identified more than 40 loci that are associated with the causality of ocular coloboma. As we have expanded studies to include singleton cases, hereditability has been very challenging to prove. As such, researchers over the past 20 years, have unraveled the complex interrelationship amongst these 40 genes using vertebrate model organisms. Such research has greatly increased our understanding of eye development. These genes function to regulate initial specification of the eye field, migration of retinal precursors, patterning of the retina, neural crest cell biology, and activity of head mesoderm. This review will discuss the discovery of loci using patient data, their investigations in animal models, and the recent advances stemming from animal models that shed new light in patient diagnosis.
“…In humans, failure of the hyaloid system to regress causes persistent fetal vasculature, a blinding disorder characterized by remnants of the hyaloid system in the eye at birth (Promelle et al, 2020). There have been rare cases of patients presenting with both persistent fetal vasculature and coloboma, suggesting there might be a shared etiology or a cause‐and‐effect relationship between these two processes (Graziano et al, 2017; Ranchod et al, 2010; Rothfield et al, 2019; Takkar, Chandra, Kumar, & Agrawal, 2016; Weiner & Nudleman, 2019). The lobes of the choroid fissure and the developing hyaloid vasculature come into contact prior to closure of the fissure, suggesting that the hyaloid vessels may act as a scaffold that is necessary for choroid fissure closure (Eckert, Knickmeyer, & Heermann, 2020).…”
Ocular coloboma is a congenital disorder of the eye where a gap exists in the inferior retina, lens, iris, or optic nerve tissue. With a prevalence of 2-19 per 100,000 live births, coloboma, and microphthalmia, an associated ocular disorder, represent up to 10% of childhood blindness. It manifests due to the failure of choroid fissure closure during eye development, and it is a part of a spectrum of ocular disorders that include microphthalmia and anophthalmia. Use of genetic approaches from classical pedigree analyses to next generation sequencing has identified more than 40 loci that are associated with the causality of ocular coloboma. As we have expanded studies to include singleton cases, hereditability has been very challenging to prove. As such, researchers over the past 20 years, have unraveled the complex interrelationship amongst these 40 genes using vertebrate model organisms. Such research has greatly increased our understanding of eye development. These genes function to regulate initial specification of the eye field, migration of retinal precursors, patterning of the retina, neural crest cell biology, and activity of head mesoderm. This review will discuss the discovery of loci using patient data, their investigations in animal models, and the recent advances stemming from animal models that shed new light in patient diagnosis.
“…Fluorescein angiography can also be used to assess the foveal anatomy, which is an important factor for postoperative visual prognosis. 35…”
Section: Hand-held Fundus Photography and Intravenous Fluorescein Angmentioning
confidence: 99%
“…Fluorescein angiography can also be used to assess the foveal anatomy, which is an important factor for postoperative visual prognosis. 35 Figure 1 A photograph of intravenous fluorescein angiography of a posterior PFV patient showing the patency of the hyaloidal artery within the stalk. …”
Persistent fetal vasculature (PFV), previously known as persistent hyperplastic primary vitreous, is a developmental malformation of the eyes that is caused by a failure of the hyaloid vasculature to regress in utero. PFV has been reported for decades; however, our understanding of the pathophysiology/pathogenesis of PFV, and the diagnostic and treatment modalities for PFV have evolved over time, and these advancements have improved diagnosis, treatment, and outcomes. However and in spite of these advancements, the heterogeneity of this disease continues to make PFV a diagnostic challenge. Here, we review what is currently known about various important aspects of PFV to update and enhance the knowledge of ophthalmologists who encounter and manage PFV in clinical practice.
“…Understanding how cornea collagen achieves the unique arrangement in three dimensions during development is scientifically interesting and medically significant. There exists a number of medical conditions associated with abnormal cornea development including agenesis (absence of the cornea), megalocornea (enlarged cornea), microcornea (small cornea), and cornea plana (flat cornea) . Therefore, the study of fibrogenesis, fibril organization, lamellae stacking, stromal assembly and packing during development may help to lead to improved understanding of corneal stroma disorders.…”
As the most abundant structural mammalian protein, collagen has been implicated in the pathogenesis of numerous diseases such as osteogenesis imperfecta, and cancer. In the case of cornea, abnormal cornea development can lead to conditions such as agenesis, megalocornea, microcornea, and cornea plana. Therefore, understanding the mechanisms of collagen assembly during development may contribute to the prevention or treatment of corneal diseases. In this study, we applied fast Fourier transform second harmonic generation microscopy to quantify parameters of corneal structures during chick development. Our results show that both the rotational pitch and overall rotational angle of corneal stroma modulate between E9 and E19. In addition, we found that corneal structures between left and right corneas are highly correlated during development.
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