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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

Related topics

Related topics

4 relations

Broader (2)

Congenital ocular coloboma (disorder)Retinal macula
Hypomagnesemia 5, Renal, with Ocular InvolvementLEBER CONGENITAL AMAUROSIS 9 (disorder)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Two heterozygous mutations identified in one Chinese patient with bilateral macular coloboma
Congenital macular coloboma is characterized by defined punched out atrophic lesions of the macula. The present study aimed to… 
2015
2015
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders
PRPS1 codes for the enzyme phosphoribosyl pyrophosphate synthetase-1 (PRS-1). The spectrum of PRPS1-related disorders associated… 
2015
2015
Retinal Structure in Cobalamin C Disease: Mechanistic and Therapeutic Implications
Abstract Purpose: To describe the retinal structure in a patient with cobalamin C (cblC) disease. Methods: A 13-year-old male… 
2007
2007
Optical Coherence Tomographic Finding in a Case of Macular Coloboma
Purpose To report the optical coherence tomography (OCT) findings in a patient with unilateral macular coloboma. Methods A 12… 
1996
1996
Macular coloboma-like lesions and pigment abnormalities as complications of cryotherapy for retinopathy of prematurity in very low birth-weight infants.
1992
1992
Bilateral macular coloboma and pigmented paravenous retinochoroidal atrophy.
A patient had bilateral macular coloboma with aggregations of pigment clumps located perivascularly, predominantly paravenously… 
Review
1988
Review
1988
Retinal dystrophy and macular coloboma
Seven cases of retinal dystrophy associated with bilateral macular colobomata are presented. Two separate entities were found… 
1988
1988
Atypical macular coloboma (dysplasia) associated with familial juvenile nephronophthisis and skeletal abnormality.
A malformation association comprising bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic… 
1973
1973
Retinal aplasia in association with macular coloboma, keratoconus and cataract
Two families are described in which macular autosomal recessive retinal aplasia was confirmed by electroretinography. In one… 
1970
1970
Hereditary macular coloboma.
  • 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… 
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