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Hereditary macular coloboma

Known as: Agenesis of macula, Coloboma of macula, Macular coloboma 
A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. [DDD:gblack]
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
PRPS1 codes for the enzyme phosphoribosyl pyrophosphate synthetase-1 (PRS-1). The spectrum of PRPS1-related disorders associated… Expand
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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
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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
  • C. Phillips
  • Journal of medical genetics
  • 1970
  • Corpus ID: 31326417
The term 'coloboma' is an unfortunate one because of the danger of confusion with the better understood defect in the retina and… Expand