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Hereditary macular coloboma
Papers overview
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2015
2015
PRPS1 codes for the enzyme phosphoribosyl pyrophosphate synthetase-1 (PRS-1). The spectrum of PRPS1-related disorders associated… Expand
2015
2015
Abstract Purpose: To describe the retinal structure in a patient with cobalamin C (cblC) disease. Methods: A 13-year-old male… Expand
2006
2006
BackgroundLeber's congenital amaurosis (LCA) is an inherited retinal dystrophy, which causes severe visual impairment in early… Expand
1996
1996
PURPOSE
Cryotherapy for retinopathy of prematurity (ROP) is effective in reducing the incidence of blindness in premature infants… Expand
1992
1992
A patient had bilateral macular coloboma with aggregations of pigment clumps located perivascularly, predominantly paravenously… Expand
1990
1990
A 9-year-old girl with Down syndrome had bilateral congenital coloboma of the macula. She was born after an uneventful pregnancy… Expand
1988
1988
A malformation association comprising bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic… Expand
1983
1983
An autosomal dominant inherited macular coloboma, not combined with other dysmorphies, is reported. Because of a 'sporadic… Expand
1973
1973
Two families are described in which macular autosomal recessive retinal aplasia was confirmed by electroretinography. In one… Expand
1970
1970
The term 'coloboma' is an unfortunate one because of the danger of confusion with the better understood defect in the retina and… Expand