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348 Possible Causes for Congenital Eye Anomaly, Midline Defects

  • Septo-Optic Dysplasia

    Septo-optic dysplasia, a variable combination of abnormalities of cerebral midline structures, is a clinically heterogeneous syndrome in which the midline defects may be implicated[] Other ocular malformations were anterior segment dysgenesis in the right eye and congenital cataract or lens abnormality in the left eye.[] It may also be accompanied by other malformations, including multiple facial dysmorphism, midline defects, cleft lip and palate, musculoskeletal and other non-neurological[]

  • Congenital Optic Disc Coloboma

    Pituitary stalk duplication in association with moya disease and bilateral morning glory disc anomaly - broadening the clinical spectrum of midline defects.[] Isolated and total optic disc coloboma is a markedly rare congenital anomaly of the eye.[] MGS is a congenital anomaly of eyes characterized with optic disc dysplasia.[]

  • CHARGE Syndrome

    The midline structural defects with nonfixation of the cecum and ascending colon, chronic constipation, and previous abdominal surgery might have been the predisposing factors[] A male neonate presented with CHARGE syndrome, a multiorgan genetic disorder involving the Coloboma of the eyes, congenital Heart defects, nasal choanal Atresia, growth and[] She explained that since our baby had mulitple (midline) defects it was likely they were caused by something more, possibily a syndrome or chromosomal abnormality.[]

  • Ectopia Lentis

    He has a normal neck exam without midline or bony tenderness. He is awake, alert, and oriented x4 with a normal neurologic exam.[] Category Congenital malformation Brite Human diseases [BR: br08402 ] Congenital malformations Congenital malformations of eye H00662 Ectopia lentis Human diseases in ICD-11[] Abstract Keratolenticular dysgenesis (KLD) and ectopia lentis are congenital eye defects.[]

  • Anophthalmos

    Pathogenetically the described disorders are due to congenital defects of midline structures as a common "developmental field".[] The brain was holoprosencephalic with a midline monoventricle and with focal brain wall dysplasia. The right orbit and eye were absent.[] : Anophthalmos, microphthalmos, and typical coloboma (AMC) form an interrelated spectrum of congenital eye anomalies that can cause significant visual loss and cosmetic disfigurement[]

  • Stickler Syndrome

    Audiometric confirmation of sensorineural hearing defect. Midline clefting (bifid uvula, submucous cleft, high arch palate, cleft repair, Pierre Robin sequence).[] The vitreous showed distinct abnormalities consistent with congenital vitreous anomaly of type 1 Stickler syndrome.[] Glaucoma Vitreal anomalies (gel that fills the eye).[]

  • Foveal Retinoschisis

    The left eye angiogram showed the fovea to be above the horizontal midline (Figure 4).[] Eyes having optic disc anomalies including congenital optic disc pit or coloboma, intrachoroidal cavitation, [10] a history of ocular surgery other than cataract extraction[] Figure 3: Fluorescein angiography of the right eye shows widespread window defects corresponding to areas of retinal pigment epithelial atrophy.[]

  • Congenital Abnormality

    Bladder exstrophy and classic epispadias lie on a spectrum of congenital anomalies with different degrees of anterior midline defect.[] 740 Anencephalus and similar anomalies 741 Spina bifida 742 Other congenital anomalies of nervous system 743 Congenital anomalies of eye 744 Congenital anomalies of ear face[] At the time of writing (August 2016) the Currarino classification remains the most widely used: morphological types type A: failure of posterior midline fusion of the two[]

  • Choroidal Coloboma

    Patients with bilateral optic nerve colobomas, morning glory syndrome, and optic nerve hypoplasia should have head imaging to evaluate for midline brain defects.[] Discussion: Ocular coloboma is a rare congenital anomaly that has a prevalence of around 0.14% in the general population.[] […] in an eyelid. coloboma Congenital, pathological or operative anomaly in which a portion of the structure of the eye is lacking, e.g. coloboma of the choroid, coloboma of[]

  • Congenital Eye Anomaly

    […] bone. [3] Children with this structural defect often have dysmorphic features, including a wide head, flat nose, hypertelorism and a midline notch in the upper lip. [3] Many[] Congenital eye anomalies are an important cause of visual impairment in children worldwide, and are responsible for approximately 15–20% of blindness and severe visual impairment[] Congenital eye anomaly surveillance in England and Wales. How effective is the national system? Eye. 2011 25, 1247–1249. Abstract .[]

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