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Optic nerve changes in PTPN11-related Noonan syndrome.
Oman J OphthalmolShoala TS +4 more
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Partial coloboma of the limbus.
Indian journal of ophthalmology, 1978 Singh Daljit +2 more
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Survey of Ophthalmology, 1981
Ocular coloboma is common malformation which includes a spectrum of anomalies that ranges from iris coloboma to clinical anophthalmos. Coloboma is etiologically heterogeneous. As an isolated defect, it is usually inherited as an autosomal dominant disorder, although autosomal recessive inheritance also occurs.
Roberta A Pagon
exaly +3 more sources
Ocular coloboma is common malformation which includes a spectrum of anomalies that ranges from iris coloboma to clinical anophthalmos. Coloboma is etiologically heterogeneous. As an isolated defect, it is usually inherited as an autosomal dominant disorder, although autosomal recessive inheritance also occurs.
Roberta A Pagon
exaly +3 more sources
Review of evidence for environmental causes of uveal coloboma
Survey of Ophthalmology, 2022 Uveal coloboma is a condition defined by missing ocular tissues and is a significant cause of childhood blindness. It occurs from a failure of the optic fissure to close during embryonic development and may lead to missing parts of the iris, ciliary body,
Delphine Blain +2 more
exaly +3 more sources
Congenital lens coloboma and associated pathologies
Documenta Ophthalmologica, 1993 Coloboma of the lens is characterized by notching of the equator of the lens. The cause of the condition is faulty development of the zonule. The lens deprived of its normal pull in the defective region is thicker and more spherical as if there were no ...
Halûk Kazokoglu
exaly +2 more sources
Optometry and Vision Science, 2003
ABSTRACT: Background. Paramacular coloboma (plural: colobomata) is a solitary oval football or torpedo‐shaped chorioretinal lesion located temporal to the fovea in one or both eyes. Previous case reports have speculated varying etiology, but few have justified its pathognomonic shape and ...
Debi, Pian +3 more
openaire +2 more sources
ABSTRACT: Background. Paramacular coloboma (plural: colobomata) is a solitary oval football or torpedo‐shaped chorioretinal lesion located temporal to the fovea in one or both eyes. Previous case reports have speculated varying etiology, but few have justified its pathognomonic shape and ...
Debi, Pian +3 more
openaire +2 more sources
Archivos de la Sociedad Española de Oftalmología (English Edition), 2015
We present a seventy-three year-old female diagnosed with lens coloboma when she was going to be operated on for cataracts.The incidence of congenital coloboma of the eye is estimated to be 0.5 per 10000 newborns in Spain, 1.4 in France, 2.6 in United States, and 7.5 in China. The diagnosis is clinical by observing the defect.
R, Demetrio +4 more
openaire +2 more sources
We present a seventy-three year-old female diagnosed with lens coloboma when she was going to be operated on for cataracts.The incidence of congenital coloboma of the eye is estimated to be 0.5 per 10000 newborns in Spain, 1.4 in France, 2.6 in United States, and 7.5 in China. The diagnosis is clinical by observing the defect.
R, Demetrio +4 more
openaire +2 more sources