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1,147 Possible Causes for Iris Coloboma

  • Mucopolysaccharidosis

    Mucopolysaccharidosis type IVB (MPS IVB) is a very rare lysosomal storage disorder characterized by skeletal dysplasia, hearing disorder, and cardiac valvular disease. Herein, we report an extremely rare manifestation of MPS IVB in a 60-year-old female patient who underwent a successful aortic valve replacement. The[…][]

  • Mucopolysaccharidosis 7

    coloboma in the nose: anteverted nostrils and a depressed nostril bridge in the mouth and oral areas: prominent alveolar processes and cleft palate in the thorax: usually[] […] coarse (Hurler-like) facies and macrocephaly, frontal prominence, premature closure of sagittal lambdoid sutures, and J-shaped sella turcica in the eyes: corneal opacity and iris[]

  • Coloboma

    Congenital Iris Coloboma This photograph is classic for congenital coloboma of the iris.[] The congenital iris coloboma can be quite challenging to manage.[] […] cases to emphasize its frequent occurrence and propose a possible explanation for the cause of the iris colobomairis heterochromia association.[]

  • Smith-Magenis Syndrome

    Microcornea, myopia, strabismus and iris dysplasia are the most common. Rare patients have iris colobomas or correctopia.[] Ophthalmic findings in patients with the SMS include: strabismus, refractive errors, microcornea, iris anomalies, microphthalmos, and coloboma.[]

  • Congenital Optic Disc Coloboma

    Figure 1 A) Iris coloboma of the right eye, case 1. B) Iris coloboma of the left eye, case 1. Figure 2 A) Optic pit and choroidal colobomas of the right eye, case 1.[] Retrospective case review of a 4-day-old male with Dandy-Walker malformation and cardiac defects who was referred with a suspected diagnosis of iris coloboma.[] Congenital optic disc pits are associated with iris, optic disc and chorioretinal colobomas (1,2).[]

  • Coloboma of Optic Papilla

    Typical colobomas result from defective closure of the embryonic fissure of the optic cup. Congenital iris colobomas are usually located inferiorly.[] Figure 1 A) Iris coloboma of the right eye, case 1. B) Iris coloboma of the left eye, case 1. Figure 2 A) Optic pit and choroidal colobomas of the right eye, case 1.[] […] the eyelid, coloboma of the iris, coloboma of the lens, coloboma of the retina, etc.[]

  • Baraitser-Winter Syndrome 1

    Abstract To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation.[] Coloboma With Ptosis, Hypertelorism, and Mental Retardation, Mental Retardation With Epilepsy and Characteristic Facies, Cerebrofrontofacial Syndrome Annotation Sufficiency[] Cleft lip /palate Enophthalmos Highly arched eyebrow Hypertelorism Iris coloboma Long palpebral fissure Long philtrum Low posterior hairline Microcephaly ... ...[]

  • Coloboma of Eyelid

    coloboma defect in the infero-temporal iris.[] This is called an iris coloboma.[] The gap may be partial or complete (see 'Iris coloboma' under 'Types of coloboma', above).[]

  • Congenital Iris Coloboma

    The modified McCannel suture technique provides acceptable functional and cosmetic repair of congenital iris colobomas.[] COLOBOMA CONGENITAL IRIS (COLOBOMA IRIDIS DYSKERATOSIS) and how it is treated?[] […] and cosmetic repair of a congenital iris coloboma.[]

  • Microcornea

    Individuals with a mutation in MAF may have pulverulent cataract alone or cataract in association with microcornea or iris coloboma. pulverulent cataract microcornea iris[] Iris coloboma also known as keyhole defect of the iris is due to defective closure of embryonic fissure.[] All affected relatives had bilateral involvement with typical inferonasal iris coloboma, chorioretinal coloboma, microcornea, and varying degrees of axial enlargement associated[]

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