Results 131 to 140 of about 10,294 (182)
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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
Ophthalmology, 2001
To characterize the ocular features of renal coloboma syndrome.Prospective, observational case series.Twelve patients referred by the pediatric nephrology clinic and the ophthalmic records of five additional patients.For each patient, age at the time of examination, gender, renal function, and presence of a mutation in the PAX2 gene were noted.
P, Dureau +6 more
openaire +2 more sources
To characterize the ocular features of renal coloboma syndrome.Prospective, observational case series.Twelve patients referred by the pediatric nephrology clinic and the ophthalmic records of five additional patients.For each patient, age at the time of examination, gender, renal function, and presence of a mutation in the PAX2 gene were noted.
P, Dureau +6 more
openaire +2 more sources
American Journal of Medical Genetics, 1981
AbstractWe report a five‐year‐old boy with bilateral ocular coloboma, hypertelorism, hypospadias, and mental retardation. The father has hypertelorism and a deceased sibling had unilateral iris coloboma. This observation may represent (1) the BBB syndrome with coincidentally segregating coloboma; (2) discovery of coloboma as a new but rare component ...
Fahed Halal +2 more
openaire +1 more source
AbstractWe report a five‐year‐old boy with bilateral ocular coloboma, hypertelorism, hypospadias, and mental retardation. The father has hypertelorism and a deceased sibling had unilateral iris coloboma. This observation may represent (1) the BBB syndrome with coincidentally segregating coloboma; (2) discovery of coloboma as a new but rare component ...
Fahed Halal +2 more
openaire +1 more source
Review of evidence for environmental causes of uveal coloboma
Survey of Ophthalmology, 2022Delphine Blain +2 more
exaly