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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
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Related topics
Related topics
4 relations
Broader (2)
Congenital ocular coloboma (disorder)
Retinal macula
Hypomagnesemia 5, Renal, with Ocular Involvement
LEBER 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
Tao Li
,
Ying Lin
,
+13 authors
Lin Lu
Molecular Medicine Reports
2017
Corpus ID: 8748835
Congenital macular coloboma is characterized by defined punched out atrophic lesions of the macula. The present study aimed to…
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2015
2015
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders
A. Al-Maawali
,
L. Dupuis
,
+9 authors
R. Mendoza-Londono
European Journal of Human Genetics
2015
Corpus ID: 35309628
PRPS1 codes for the enzyme phosphoribosyl pyrophosphate synthetase-1 (PRS-1). The spectrum of PRPS1-related disorders associated…
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2015
2015
Retinal Structure in Cobalamin C Disease: Mechanistic and Therapeutic Implications
T. Aleman
,
Frank Brodie
,
+6 authors
S. Davidson
Ophthalmic Genetics
2015
Corpus ID: 21525351
Abstract Purpose: To describe the retinal structure in a patient with cobalamin C (cblC) disease. Methods: A 13-year-old male…
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2007
2007
Optical Coherence Tomographic Finding in a Case of Macular Coloboma
J. Oh
,
Y. Yu
,
Jeong-Min Hwang
,
K. Park
Korean Journal of Ophthalmology
2007
Corpus ID: 20136246
Purpose To report the optical coherence tomography (OCT) findings in a patient with unilateral macular coloboma. Methods A 12…
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1996
1996
Macular coloboma-like lesions and pigment abnormalities as complications of cryotherapy for retinopathy of prematurity in very low birth-weight infants.
Y. Saito
,
Y. Hatsukawa
,
J. Lewis
,
H. Koike
,
T. Omoto
,
Y. Tano
American journal of ophthalmology-glaucoma
1996
Corpus ID: 22140237
1992
1992
Bilateral macular coloboma and pigmented paravenous retinochoroidal atrophy.
M. S. Chen
,
C. H. Yang
,
J. S. Huang
British Journal of Ophthalmology
1992
Corpus ID: 30790925
A patient had bilateral macular coloboma with aggregations of pigment clumps located perivascularly, predominantly paravenously…
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Review
1988
Review
1988
Retinal dystrophy and macular coloboma
J. Heckenlively
,
S. Foxman
,
E. Parelhoff
Documenta Ophthalmologica
1988
Corpus ID: 599180
Seven cases of retinal dystrophy associated with bilateral macular colobomata are presented. Two separate entities were found…
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1988
1988
Atypical macular coloboma (dysplasia) associated with familial juvenile nephronophthisis and skeletal abnormality.
A. Alsing
,
C. Christensen
Ophthalmic Paediatrics and Genetics
1988
Corpus ID: 40301130
A malformation association comprising bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic…
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1973
1973
Retinal aplasia in association with macular coloboma, keratoconus and cataract
D. Leighton
,
R. Harris
Clinical Genetics
1973
Corpus ID: 39017929
Two families are described in which macular autosomal recessive retinal aplasia was confirmed by electroretinography. In one…
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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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