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Bilateral Optic Disc Coloboma with Coexisting Unilateral Retinochoroidal Coloboma in an Adolescent from Northwestern Nigeria: A Case Report. [PDF]
Niger Med JHabib SG +6 more
europepmc +1 more source
Application of next-generation sequencing to determine mutations in candidate genes for congenital eye malformations in the Mexican indigenous population. [PDF]
Front GenetGarcía-Montalvo IA +3 more
europepmc +1 more source
Optic nerve changes in PTPN11-related Noonan syndrome.
Oman J OphthalmolShoala TS +4 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.
R 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.
R A Pagon
exaly +3 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