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Ocular Findings in Trisomy 13: Nasolacrimal Duct Stenosis Case Series

Open Journal of Ophthalmology 2019年第4期9卷 161-164页

作者： samiksha fouzdar jain Yan Saoirse Brian Conahan Donny Suh University of Nebraska Medical Center and Children’s Hospital of Omaha Nebraska USA University of Nebraksa Medical Center Omaha Nebraska USA School of Medicine Creighton University Omaha Nebraska USA

Trisomy 13, also known as Patau Syndrome, is a congenital malformation that leads to several ocular anomalies, of which cataracts are the most common, as well as iris and retinal colobomas, persistent hyperplastic primary vitreous, persistent tunica vasculosa lentis, and microphthalmos. While most do not survive beyond the neonatal period, those that do survive past one year of age have an 84% chance of making it to age 5. Therefore, treatments for ocular problems should be used to improve the quality of life if the child can withstand surgery. The literature on this topic has described histopathologic findings in postmortem eyes. This case series supports those observations and presents a new discovery of nasolacrimal duct obstructions or stenosis. Deciding on surgical intervention in cases with Trisomy 13 can be challenging, and a variety of factors must be taken into account before surgery is considered. Treatment of these cases can be difficult, necessitating deliberate consideration and determination on a case-by-case basis;however, this case series gives additional evidence to help guide these decisions. Traditionally, trisomy 13 was regarded as being lethal, multiple organ malformations and severe intellectual disability.

关键词： Trisomy 13 Nasolacrimal Duct New Finding in Patau Syndrome

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Comparison Study of Funduscopic Exam of Pediatric Patients Using the D-EYE Method and Conventional Indirect Ophthalmoscopic Methods

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Open Journal of Ophthalmology 2017年第3期7卷 145-152页

作者： Drew Dickson samiksha fouzdar-jain Collin MacDonald Helen Song Daniel Agraz Linda Morgan Donny Suh University of Nebraska Medical Center Omaha Nebraska USA Children’s Hospital and Medical Center Omaha Nebraska USA

Purpose: The D-EYE device, a new fundoscopic smartphone lens, has demonstrated its utility in a clinical setting to detect and document ocular pathology, but has not been tested in the pediatric population. A prospective study was performed to explore the application of D-EYE in pediatric fundus examinations. Methods: Patients ages 3 - 18 years old underwent dilated fundus examinations by masked examiners using the video function of the D-EYE, while indirect ophthalmoscopy was performed by apediatric ophthalmologist. The examiners independently analyzed the D-EYE videos for the presence or absence of abnormalities, cup-to-disc (c/d) ratios and optic nerve size and color. The D-EYE video findings were compared to indirect ophthalmoscopy findings. Results: The study included 172 eyes from 87 patients. In comparing D-EYE to indirect ophthalmoscopy for detecting fundus abnormalities, the sensitivity was 0.72, specificity was 0.97, positive predictive value (PPV) was 0.77, negative predictive value (NPV) was 0.97, positive likelihood ratio (LR) was 27.8, and negative LR was 0.29. The agreement rate between the D-EYE video graders for the c/d ratio within a value of 0.1 was 97.0%. Multiple, distinct abnormalities were discovered using the D-EYE device, including nystagmus, optic nerve hypoplasia, optic disc edema, peripapillary atrophy, disc pallor, and optic disc drusen. Conclusion: Fundoscopic imaging using the D-EYE smartphone lens reliably detects the presence of fundus abnormalities and has good reliability in assessing c/d ratios. The video capability is useful in patients with nystagmus or those who are poorly compliant with the examination and allowed for effective teaching by the pediatric ophthalmologist.

关键词： D-EYE Fundoscopic Imaging Pediatric Ophthalmologist

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