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Ophthalmology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Clinical presentation: this is a congenital, noninflammatory extension of opaque scleral tissue and fine vascular conjunctival and episcleral tissue into the peripheral cornea obscuring the limbus (Fig. 7.17). It is best considered as peripheral sclerocornea where it is associated with cornea plana. It is usually bilateral in 90% of cases. Its use when describing total congenital corneal opacification is incorrect and misleading.
Ocular media
Published in Fiona Rowe, Visual Fields via the Visual Pathway, 2016
Congenital anomalies include abnormalities of size (e.g. megalocornea, microcornea), abnormalities of curvature (e.g. keratoglobus) and opacities. A variety of factors cause congenital corneal anomalies including genetic, metabolic and developmental causes with more common causes of opacity as follows: SclerocorneaTears in Descemet membrane (e.g. birth trauma)Ulcer (e.g. bacterial)Metabolic (e.g. mucopolysaccharidoses)Posterior corneal defect (e.g. Peters anomaly)Endothelial dystrophy (e.g. congenital hereditary endothelial dystrophy)Dermoid (e.g. cyst)
The Developmental Glaucomas
Published in Neil T. Choplin, Carlo E. Traverso, Atlas of Glaucoma, 2014
Carlo E. Traverso, Alessandro Bagnis
Microcornea, defined as a corneal diameter of less than 10 mm, is not a specific disease but rather is associated with other ocular conditions, such as persistent hyperplastic primary vitreous, nanophthalmos, microophthalmos, rubella, and Rieger’s syndrome (Figure 13.7). Glaucoma may result from angle closure secondary to anterior segment crowding. Similarly, cornea plana and sclerocornea can be associated with angle anomalies and glaucoma (Figure 13.8).
Identification of a novel de novo variant in OTX2 in a patient with congenital microphthalmia using targeted next-generation sequencing followed by prenatal diagnosis
Published in Ophthalmic Genetics, 2022
Maryam Rafati, Faezeh Mohamadhashem, Koosha Jalilian, Fatemeh Hoseininasab, Laya Fakhri, Azadeh Hoseini, Hosna Amiri, Zeinab Barati, Somayeh Darzi Ramandi, Nioosha Mostofinezhad, Amir Hosein Mahmoudi, Saeed Reza Ghaffari
The proband was a 23-year-old male with congenital blindness. Clinical observations of the patient at two months of age are the following: the patient’s right eye had a horizontal corneal diameter of 6 mm and a Schiøtz tonometer reading of 6 mmHg. The right eye exhibited total blindness with no light perception. Microcornea and sclerocornea were detected. Further observations of the interior anatomy of the eye were hindered by sclerocornea. Clinical findings of the left eye are as follows: horizontal corneal diameter and intraocular pressure were measured to be 5 mm and 10 mmHg respectively. The left eye exhibited normal pupillary light reflex as well as a normal and clear lens. Iris coloboma and microcornea were observed. Large chorioretinal coloboma was observed in the fundus examination. The left eye displayed reduced depth of the anterior chamber. Extensive choroidal coloboma was found in the inferonasal region. Pigmentary changes in the macula were noted. Albinoid fundus appearance and pale optic disks were observed, which could be an indication of optic nerve atrophy. High level of hyperopia with +31 diopter refraction was detected.
Effect of Lithium and Valproate on Proliferation and Migration of Limbal Epithelial Stem/Progenitor Cells
Published in Current Eye Research, 2019
Yasemi Masoud, Salouti Ramin, Razmkhah Mahboobeh, Maalhagh Mehrnoosh, Javidi Fahimeh, Kariminejad Parastoo
First, the Sclerocornea tissue that was not clinically accessible was prepared by donors from the age of 18–76 by the Khalili Eye Shiraz Bank, which it shelfs life was less than 7h. Samples were stored in an ophthalmic bank at Optisol-GS (Bausch and lomb Inc., Rochester, NU, USA) at 4°C for less than 72 hours. The protocol and stages of the study were designed according to the Helsinki Declaration and approved at the Ethics Committee of Shiraz University of Medical Sciences. In order to extract the limbal epithelial stem/progenitor cells from the cornea, the limbal loop was divided into 1 × 2mm dots and was cultured in a Dullbeccos modified Eagle Medium (DMEM): F12 (GIBCO, USA) enriched with Fetal Bovine Serum 10% (FBS) (GIBCO, USA) containing 1% penicillin/streptomycin (Biosera, UK). After each time the confluency of the limbal cells reached 70%, subculturing was carried out. Also, in order to determine the correctness of the isolation of limbal epithelial stem/progenitor cells, specific markers of these cells were evaluated using Immunocytochemistry (ICC) and Flow cytometry methods.
Identification of PITX3 mutations in individuals with various ocular developmental defects
Published in Ophthalmic Genetics, 2018
Celia Zazo Seco, Julie Plaisancié, Tatiana Lupasco, Caroline Michot, Jacmine Pechmeja, Julian Delanne, Edouard Cottereau, Carmen Ayuso, Marta Corton, Patrick Calvas, Nicola Ragge, Nicolas Chassaing
Family 2, homozygous c.669del [p.(Leu225Trpfs*84)] mutation: A consanguineous family from Iraq (Figure 1(b)) was ascertained due to the proband, II:1, having bilateral congenital sclerocornea and ASMD, identified on neonatal screening. No ocular abnormalities were detected in her dizygotic twin, II.2. They were born prematurely (27 weeks of gestation, 960 g) by caesarean section. Transthoracic, transfontanelle, and abdominal ultrasound examinations did not reveal anomalies. No infection was reported during pregnancy. At 14 months of age, the proband was unable to sit unaided. At that time, her length was 72.5 cm (−0.75 SD), weight was 8.85 kg (−0.5 SD), and OFC was 44.5 cm (−0.1 SD). She had plagiocephaly, metopic ridge and a thin upper lip, as well as broad thumbs and clinodactyly of the 5th finger. At two years of age, the index case developed bilateral buphthalmos. At that time, wearing glasses, she could follow the movement of bright objects. Her mother, I.1, presented with nasal and temporal posterior embryotoxon in the right eye and temporal posterior embryotoxon in the left eye. Her father, I:2, presented with congenital bilateral cataract associated with nasal posterior embryotoxon in the left eye. Her twin brother had nasal posterior embryotoxon in the left eye. Her father reported that his two siblings presented early onset cataract-like symptoms. The index’s parents were first cousins.