Ocular and Systemic Findings in Adults with Uveal Coloboma

Varela, Malena Daich; Huryn, Laryssa A.; Hufnagel, Robert B.; Zein, Wadih M.; Blain, Delphine

doi:10.1016/j.ophtha.2020.05.028

Cited by 10 publications

(2 citation statements)

References 7 publications

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“…When a failure of closure of the embryonic fissure occurs, the clinical condition of coloboma can result. Depending on the extent of involvement, colobomas may affect the iris, ciliary body, lens, sclera, choroid, or retina, and may even involve the ON 33 . Most cases affect only the iris.…”

Section: Milestones In Embryonic Development Of the Orbit During Week...mentioning

confidence: 99%

Embryonic Development of the Orbit

Gaca

Lewandowicz

Lipczyńska-Lewandowska

et al. 2022

Klin Monbl Augenheilkd

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The embryonic and fetal development of the orbit comprises a series of sequential events, starting with the fertilization of the ovum and extending until birth. Most of the publications dealing with orbital morphogenesis describe the sequential development of each germinal layer, the ectoderm with its neuroectoderm derivative and the mesoderm. This approach provides a clear understanding of the mode of development of each layer but does not give the reader a general picture of the structure of the orbit within any specified time frame. In order to enhance our understanding of the developmental anatomy of the orbit, the authors have summarized the recent developments in orbital morphogenesis, a temporally precise and morphogenetically intricate process. Understanding this multidimensional process of development in prenatal life, identifying and linking signaling cascades, as well as the regulatory genes linked to existing diseases, may pave the way for advanced molecular diagnostic testing, developing minimally invasive interventions, and the use of progenitor/stem cell and even regenerative therapy.

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Section: Milestones In Embryonic Development Of the Orbit During Week...mentioning

confidence: 99%

Embryonic Development of the Orbit

Gaca

Lewandowicz

Lipczyńska-Lewandowska

et al. 2022

Klin Monbl Augenheilkd

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“…A linear relationship between mean pressure attenuation index and axial length results in reduced blood flow and resultant lesser pressure on the vessel wall, causing decreased leakage and signs of typical DR.[ 59 ] A combination of other factors, including increased prevalence of uveal coloboma, thinning of retinal veins, accelerated and more frequently encountered posterior vitreous detachment, and alteration of the cytokine profile including a more marked dilution of VEGF in myopic eyes may also be responsible. [ 60 61 62 63 ]…”

Section: Associated Modifying Factorsmentioning

confidence: 99%

Asymmetric diabetic retinopathy

Azad

Sinha

Nishant

2021

Indian Journal of Ophthalmology

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Increasing prevalence of diabetes mellitus warrants recognition of factors related to asymmetric diabetic retinopathy (DR). This thematic synthesis based on an iterative literature review conducted in Medline and Google Scholar pertaining to diabetes with coexistent asymmetry of retinopathy included 45 original articles, 21 case reports and series, and 18 review articles from 1965 to 2020. Asymmetric DR is defined as proliferative DR (PDR) in one eye and nonproliferative, preproliferative, background, or no DR in the other eye lasting for at least 2 years. It is observed in 5%–10% of patients with PDR. Associated factors can be divided into (i) vascular: carotid obstructive disease, ocular ischemic syndrome, and retinal vascular diseases; (ii) Inflammatory: uveitis, endophthalmitis, and Fuchs’ heterochromic cyclitis; (iii) degenerative: posterior vitreous detachment, high myopia and anisometropia, uveal coloboma, retinal detachment, retinitis pigmentosa, and chorioretinal atrophy and scarring; (iv) cataract surgery and vitrectomy; and (v) miscellaneous: elevated intraocular pressure, glaucoma, amblyopia, retinal detachment, and optic atrophy. The gamut of diagnostic modalities for asymmetric DR includes thorough ocular examination, slit-lamp biomicroscopy, fundus photography, fundus fluorescein angiography, optical coherence tomography, and newer modalities such as ultra-widefield fluorescein angiography and optical coherence tomography angiography, along with a complete systemic evaluation and carotid Doppler studies. The differential diagnosis includes other causes of retinal neovascularization that may present in an asymmetric manner, such as sickle cell retinopathy, retinal vein occlusions, and featureless retina. This review discusses in detail the aforementioned considerations and draws a comprehensive picture of asymmetric DR in order to sensitize ophthalmologists to this important condition.

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Anophthalmia, Microphthalmia, and Uveal Coloboma

Brooks,

Brooks

2025

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics

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Ocular and Systemic Findings in Adults with Uveal Coloboma

Cited by 10 publications

References 7 publications

Embryonic Development of the Orbit

Embryonic Development of the Orbit

Asymmetric diabetic retinopathy

Anophthalmia, Microphthalmia, and Uveal Coloboma

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