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Fundus Albipunctatus
Known as:
Pigmentary retinal dystrophy
, Retinal dystrophy, albipunctate
, Retinal pigmentary dystrophy
National Institutes of Health
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Related topics
Related topics
7 relations
Autosomal dominant inheritance
Autosomal recessive inheritance
Bork Stender Schmidt syndrome
Night Blindness
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Broader (2)
Retinal Diseases
Retinal Dystrophies
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2010
2010
Spectral-Domain Optical Coherence Tomography and Fundus Autofluorescence Characteristics in Patients with Fundus Albipunctatus and Retinitis Punctata Albescens
M. Genead
,
G. Fishman
,
M. Lindeman
Ophthalmic Genetics
2010
Corpus ID: 12188419
Purpose: Fundus albipunctatus is a form of congenital stationary night blindness characterized by an early onset and…
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Highly Cited
2007
Highly Cited
2007
Danon disease presenting with dilated cardiomyopathy and a complex phenotype
Matthew R. G. Taylor
,
L. Ku
,
+15 authors
L. Mestroni
Journal of Human Genetics
2007
Corpus ID: 40522766
AbstractX-linked dilated cardiomyopathy (XLCM) was first described in 1987 and associated with dystrophin gene (DMD) mutations a…
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Review
2004
Review
2004
Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy
A. Michalík
,
J. Martin
,
C. Broeckhoven
European Journal of Human Genetics
2004
Corpus ID: 2528828
Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant, late-onset, slowly progressive disorder, primarily characterized…
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Highly Cited
2000
Highly Cited
2000
A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.
M. Nakamura
,
Y. Hotta
,
A. Tanikawa
,
H. Terasaki
,
Y. Miyake
Investigative Ophthalmology and Visual Science
2000
Corpus ID: 20658060
PURPOSE To analyze the RDH5 gene in patients with fundus albipunctatus with and without cone dystrophy and to determine whether…
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2000
2000
A frequent 1085delC/insGAAG mutation in the RDH5 gene in Japanese patients with fundus albipunctatus.
Y. Wada
,
T. Abe
,
N. Fuse
,
M. Tamai
Investigative Ophthalmology and Visual Science
2000
Corpus ID: 7459240
PURPOSE To identify the frequency of a mutation of the RDH5 gene in Japanese patients with hereditary retinal degeneration and to…
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Highly Cited
1999
Highly Cited
1999
Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus
Hiro‐aki Yamamoto
,
A. Simon
,
U. Eriksson
,
Eddie W. Harris
,
E. Berson
,
T. Dryja
Nature Genetics
1999
Corpus ID: 566998
The metabolic pathways that produce 11-cis retinal are important for vision because this retinoid is the chromophore residing in…
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Highly Cited
1999
Highly Cited
1999
11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus.
F. Gonzalez‐Fernandez
,
D. Kurz
,
+5 authors
S. Khani
Molecular Vision
1999
Corpus ID: 19922639
PURPOSE Patients with fundus albipunctatus uniformly experience difficulty with vision at night. Their retinas are spotted with…
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Highly Cited
1995
Highly Cited
1995
Clinical evaluation of multifocal electroretinogram.
M. Kondo
,
Y. Miyake
,
M. Horiguchi
,
S. Suzuki
,
A. Tanikawa
Investigative Ophthalmology and Visual Science
1995
Corpus ID: 29403210
PURPOSE To compare the multifocal electroretinogram (ERG) system to conventional ganzfeld and focal ERGs obtained from patients…
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1985
1985
Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma--a new syndrome?
S. Ghose
,
M. Sachdev
,
H. Kumar
British Journal of Ophthalmology
1985
Corpus ID: 40371972
An unusual case of bilateral nanophthalmos with pigmentary retinal dystrophy and angle closure glaucoma is presented. This is…
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1976
1976
Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities.
M. Popović-Rolović
,
N. Calić-Perisíc
,
G. Bunjevački
,
D. Negovanovic
Archives of Disease in Childhood
1976
Corpus ID: 9492308
A boy aged 9 3/4 years with interstitial nephritis, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities…
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