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Ophthalmology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
A rare abnormality of the shape of the pupil. Congenital causes include persistent pupillary membranes, iris coloboma, iris hypoplasia and ectopia lentis et pupillae (see below). Acquired causes include posterior synechiae seen in iritis or trauma.
Special Senses
Published in Pritam S. Sahota, James A. Popp, Jerry F. Hardisty, Chirukandath Gopinath, Page R. Bouchard, Toxicologic Pathology, 2018
Kenneth A. Schafer, Oliver C. Turner, Richard A. Altschuler
Many spontaneous uveal findings are congenital and detected during pre-study ocular examinations, including persistent pupillary membrane and posterior coloboma (Bellhorn 1974; Heywood 1973; Hubert et al. 1994; Kuno et al. 1991; Rubin 1974; Taradach and Greaves 1984; Taradach et al. 1981). Other uveal findings may be associated with toxicity and include thickened ciliary epithelial basement membranes of dogs after administration of an anticholinesterase pesticide and silver deposits on basement membranes and within uveal pigmented epithelial cells after systemic administration of silver lactate to rats (Grant 1986).
Vitreoretinal Surgery in Rare Conditions
Published in Pradeep Venkatesh, Handbook of Vitreoretinal Surgery, 2023
Intraocular fetal vasculature is a complex network of blood vessels that supply and nourish the developing anterior, intermediate, and posterior regions of the eye during intrauterine growth. Components of the fetal vasculature include the hyaloid artery, tunica vasculosa lentis, and a pupillary network [iridohyaloid and capsulopupillary artery]. These vessels develop by the process of vasculogenesis and, in the large majority of cases, undergo spontaneous dissolution at specific time intervals, long before the newborn is delivered. In some, however, their remnants could be discernible as Mittendroff’s dot and Bergmeister’s papillae on the posterior capsule of the lens and optic nerve head, respectively. These are detected incidentally, minor in nature, and do not lead to any pathological sequelae. In rare instances, the fetal vasculature fails to dissolute and leads to major sequelae, jeopardizing postnatal development of the eyeball as well as VA. This condition is referred to as persistent fetal vasculature [PFA]. In the past, a commonly used terminology for this was persistent hyperplastic primary vitreous (PHPV). In almost 90% of infants, the condition is unilateral and may be associated with persistent pupillary membrane, congenital cataract, macular ectopia, retinal drag, retinal fold, vitreous opacification, coloboma, optic disc hypoplasia, retinal detachment, and retinal disorganization. Some genetic anomalies [trisomies 13, 15, and 18] and systemic associations [neurofibromatosis] may be present in bilateral cases but not in typical unilateral PHPV. In bilateral cases, a rare variant called MPPC syndrome [microcornea, posterior megalolenticonus, PFA, and coloboma] must be considered. In this syndrome, the posterior lenticonus is sometimes said to be so large as to occupy the majority of the vitreous cavity. The usual presenting features are facial asymmetry [orbital], leukocoria, and microphthalmos. Important differential diagnoses to consider are ROP and FEVR. PFV has been classified into anterior, posterior, and combined forms, and recognizing this is important because it has a bearing on the long-term prognosis and in making management decisions. Each of these anatomical types has been further subdivided based on severity into mild and severe. Anterior PFV is characterized by an isolated dense retrolental plaque [cataract may or may not be present] and is termed mild when there is no involvement of the ciliary process and severe if there is. In posterior PFV, there is a stalk of hyaloid artery remnant running anteroposteriorly within the vitreous cavity and no attachment to the crystalline lens. It is mild when optic nerve traction and macular distortion are negligible and severe when it is significant. Combined anterior–posterior has features of both types and could again be either mild or severe. In some children, spontaneous vitreous haemorrhage and complex retinal detachment may be the presenting features.
Ophthalmic findings as clues for early diagnosis of Vici syndrome in a neonate
Published in Ophthalmic Genetics, 2021
Mohammed A. Rafei, Beena Harikrishna, Khalid Al Thihli, Abdullah S. Al-Mujaini, Anuradha Ganesh
On ophthalmic examination, the child barely gave a visual response to light. No fixation or following of targets, strabismus or nystagmus was noted. The eyeballs were normal in size. Anterior segment examination revealed clear corneas with normal corneal diameters. The iris was hypopigmented with transillumination defects. A persistent pupillary membrane and a visually insignificant anterior polar cataract were noted in both eyes (Figure 3a,b). The pupillary reaction was sluggish bilaterally. Dilated fundus examination showed grey-colored optic nerves with macular hypoplasia in both eyes. The retinal background was hypopigmented with visible choroidal vessels (Figure 3c,d). Cycloplegic refraction revealed mild myopic astigmatism. The presence of bilateral cataract, oculocutaneous albinism, and agenesis of the corpus callosum in the neonate and similar family history in the elder brother raised a suspicion of Vici syndrome.
Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional retinal detachment in an infant with multiple congenital anomalies-hypotony-seizures syndrome 3
Published in Ophthalmic Genetics, 2021
Frances Wu, Paula C. Goldenberg, Shizuo Mukai
The blink reflex to light was inconsistent in the right eye and absent in the left eye. An examination under general anesthesia was performed. Intraocular pressure was 24 mmHg and 4 mmHg in right and left eyes, respectively. Horizontal corneal diameters were 11.0 mm in the right eye and 9.5 mm in the left. Anterior segment examination revealed posterior embryotoxon and persistent pupillary membrane in both eyes (Figure 1a,b). The right lens was clear and the left had peripheral capsular haze. Gonioscopy showed pigmented strands crossing the angle in both eyes, with angle closure in the left. Dilated fundus examination demonstrated a falciform retinal fold with inferotemporal dragging of the retinal vessels and peripheral avascular retina in the right eye (Figure 1c). Extensive vitreous membranes, intraretinal hemorrhages, and tractional-exudative RD were present in the left eye (Figure 1d).
Aplasia of the Optic Nerve: A Report of Seven Cases
Published in Neuro-Ophthalmology, 2020
Yujia Zhou, Maura E. Ryan, Marilyn B. Mets, Hawke H. Yoon, Bahram Rahmani, Sudhi P. Kurup
ONA is typically associated with other ocular abnormalities1 as seen here, too (Table 1). All of our patients clinically demonstrated microphthalmia and various involvements of both anterior and posterior segments in their affected eye(s) (n = 7, 100%). Microphthalmia usually indicates anatomic alterations of the eye and is a feature of many ocular diseases.12 In Case 4, no pathogenic variant was detected in four genes known to cause microphthalmia, indicating that other genes, epigenetic, or environmental factors may be contributory.6 It has been suggested that ONA may be underdiagnosed in the setting of severe microphthalmia due to difficulties of examining the eyes via funduscopy.13 Anomalous retina, as seen in all of our patients (n = 7, 100%), is another prominent feature of ONA, which indicates a close relationship between the optic nerve and retinal development. Neovascularization of the posterior segment has been reported, which was attributed to retinal ischaemia.14 In contrast, the neovascularization of our patients occurred in the anterior segment (n = 2, 29%). Other common ocular features in our patients included persistent pupillary membrane (n = 4, 57%), coloboma (n = 3, 43%), cataract (n = 3, 43%), posterior synechiae (n = 3, 43%), corneal abnormalities (n = 2, 29%), and elevated IOP (n = 2, 29%).