Skip to search formSkip to main contentSkip to account menu

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.
2017
2017
Congenital macular coloboma is characterized by defined punched out atrophic lesions of the macula. The present study aimed to… 
2015
2015
PRPS1 codes for the enzyme phosphoribosyl pyrophosphate synthetase-1 (PRS-1). The spectrum of PRPS1-related disorders associated… 
2015
2015
Abstract Purpose: To describe the retinal structure in a patient with cobalamin C (cblC) disease. Methods: A 13-year-old male… 
2007
2007
Purpose To report the optical coherence tomography (OCT) findings in a patient with unilateral macular coloboma. Methods A 12… 
1992
1992
A patient had bilateral macular coloboma with aggregations of pigment clumps located perivascularly, predominantly paravenously… 
Review
1988
Review
1988
Seven cases of retinal dystrophy associated with bilateral macular colobomata are presented. Two separate entities were found… 
1988
1988
A malformation association comprising bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic… 
1973
1973
Two families are described in which macular autosomal recessive retinal aplasia was confirmed by electroretinography. In one… 
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…