Microcornea, posterior megalolenticonus, persistent fetal vasculature, chorioretinal coloboma (MPPC) syndrome: Case
Lindsay D Rothfield1, Linda A Cernichiaro-Espinosa2,3, Chrisfouad R Alabiad2
1University of Miami Miller School of Medicine, 1600, NW 10th Ave, Miami, FL, United States.
Purpose:
MPPC 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.
Methods:
Retrospective review of medical records of patients who presented with microcornea, persistent fetal vasculature, chorioretinal coloboma, and microphthalmia who underwent surgical correction at Bascom Palmer Eye Institute.
Results:
3 patients (6 eyes) were included, two males and one female. All patients were born full term, vaginally, and had no family history of genetic abnormalities affecting the eye. All patients had color fundus images, fluorescein angiography (FA) and echography. Four eyes underwent surgery. Following surgical intervention, patients demonstrated improved visual acuity, and improved functional status.
Conclusion And Importance:
Patients with microcornea, PFV, chorioretinal coloboma, and microphthalmos, can benefit from surgical intervention when functional decline or media opacities are noted. Though difficult to assess accurate visual acuity and visual improvement pre-operatively and post-operatively, it is evident that our patients demonstrated improvement in functionality and vision following surgical intervention.
Insights
This study shows that surgical intervention, including pars plana vitrectomy and lensectomy, can improve vision and function in patients with microcornea, persistent fetal vasculature (PFV), and related conditions.
Area of Science:
- Ophthalmology
- Genetics
- Surgical Innovation
Background:
- Microphthalmia with corneal opacity, persistent fetal vasculature (PFV), chorioretinal coloboma, and megalolenticonus (MPPC) syndrome is a rare condition.
- Variations of MPPC syndrome present unique challenges in visual rehabilitation.
- Surgical management of complex pediatric ocular conditions requires careful consideration of functional outcomes.
Purpose of the Study:
- To report on three patients with a variation of MPPC syndrome.
- To evaluate the efficacy of pars plana vitrectomy, pars plana lensectomy, and amblyopic management in these patients.
- To compare clinical characteristics and surgical outcomes with existing literature.
Main Methods:
- Retrospective review of medical records for patients with microcornea, PFV, chorioretinal coloboma, and microphthalmia.
- Surgical correction involving pars plana vitrectomy and lensectomy was performed.
- Ancillary tests included color fundus photography, fluorescein angiography, and echography.
Main Results:
- Three patients (6 eyes) were included in the study.
- Four eyes underwent surgical intervention.
- Post-surgical intervention, patients showed improved visual acuity and functional status.
Conclusions:
- Surgical intervention can benefit patients with microcornea, PFV, chorioretinal coloboma, and microphthalmos, especially with functional decline or media opacities.
- Despite challenges in pre- and post-operative visual acuity assessment, functional and visual improvements were evident.
- This study highlights the potential for positive outcomes with timely surgical management in complex cases.
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