pigmentary retinal dystrophy Latest Research Papers

Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene

Ophthalmic Genetics ◽

10.1080/13816810.2019.1627464 ◽

2019 ◽

Vol 40 (3) ◽

pp. 227-236 ◽

Cited By ~ 2

Author(s):

Monika Meinert ◽

Elisabet Englund ◽

Carola Hedberg-Oldfors ◽

Anders Oldfors ◽

Björn Kornhall ◽

...

Keyword(s):

Hypertrophic Cardiomyopathy ◽

Early Onset ◽

De Novo ◽

Retinal Dystrophy ◽

Danon Disease ◽

Pigmentary Retinal Dystrophy ◽

Lamp2 Gene

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Angle-closure glaucoma in a patient with the nanophthalmos-ocular cystinosis-foveoschisis-pigmentary retinal dystrophy complex

BMC Ophthalmology ◽

10.1186/1471-2415-12-23 ◽

2012 ◽

Vol 12 (1) ◽

Cited By ~ 4

Author(s):

Kenan Sonmez ◽

Pehmen Y Ozcan

Keyword(s):

Retinal Dystrophy ◽

Angle Closure Glaucoma ◽

Angle Closure ◽

Pigmentary Retinal Dystrophy

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Rapid Vision Loss Secondary to Late Onset Pigmentary Retinal Dystrophy

Optometry - Journal of the American Optometric Association ◽

10.1016/j.optm.2011.04.048 ◽

2011 ◽

Vol 82 (6) ◽

pp. 366-367

Author(s):

Jennifer L. Hill ◽

Sherrol A. Reynolds ◽

Nicole Alessi ◽

Arnie Patrick

Keyword(s):

Vision Loss ◽

Late Onset ◽

Retinal Dystrophy ◽

Pigmentary Retinal Dystrophy

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Bilateral nanophthalmos and pigmentary retinal dystrophy—an unusual syndrome

Graefe s Archive for Clinical and Experimental Ophthalmology ◽

10.1007/s00417-005-0230-1 ◽

2006 ◽

Vol 244 (9) ◽

pp. 1203-1205 ◽

Cited By ~ 6

Author(s):

Helena Proença ◽

A. Castanheira–Dinis ◽

M. Monteiro–Grillo

Keyword(s):

Retinal Dystrophy ◽

Pigmentary Retinal Dystrophy

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Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy

European Journal of Human Genetics ◽

10.1038/sj.ejhg.5201108 ◽

2003 ◽

Vol 12 (1) ◽

pp. 2-15 ◽

Cited By ~ 79

Author(s):

A Michalik ◽

J-J Martin ◽

C Van Broeckhoven

Keyword(s):

Spinocerebellar Ataxia ◽

Retinal Dystrophy ◽

Spinocerebellar Ataxia Type ◽

Spinocerebellar Ataxia Type 7 ◽

Pigmentary Retinal Dystrophy

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Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNALeu A to G mutation11The authors have no proprietary interest in the development or marketing of any device or medications mentioned in the article or any competing device.

Ophthalmology ◽

10.1016/s0161-6420(99)90244-0 ◽

1999 ◽

Vol 106 (6) ◽

pp. 1101-1108 ◽

Cited By ~ 50

Author(s):

Paul R Smith ◽

Stephen C Bain ◽

Peter A Good ◽

Andrew T Hattersley ◽

Anthony H Barnett ◽

...

Keyword(s):

Mitochondrial Dna ◽

Retinal Dystrophy ◽

Inherited Diabetes ◽

Pigmentary Retinal Dystrophy

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Pigmentary retinal dystrophy associated with pigmentary glaucoma

Graefe s Archive for Clinical and Experimental Ophthalmology ◽

10.1007/bf02169408 ◽

1989 ◽

Vol 227 (4) ◽

pp. 335-339 ◽

Cited By ~ 9

Author(s):

Felice Cardillo Piccolino ◽

Giovanni Calabria ◽

Anna Polizzi ◽

Mauro Fioretto

Keyword(s):

Retinal Dystrophy ◽

Pigmentary Glaucoma ◽

Pigmentary Retinal Dystrophy

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CARRIER DETECTION IN X-PIGMENTARY RETINAL DYSTROPHY (X-LINKED RETINITIS PIGMENTOSA) BY DNA RESTRICTION FRAGMENT LENGTH POLYMORPHISM STUDIES

Australian and New Zealand Journal of Ophthalmology ◽

10.1111/j.1442-9071.1988.tb01252.x ◽

1988 ◽

Vol 16 (2) ◽

pp. 67-74 ◽

Cited By ~ 3

Author(s):

J. D. CHEN ◽

F. B. HALLIDAY ◽

M. J. DENTON

Keyword(s):

Restriction Fragment Length Polymorphism ◽

Retinitis Pigmentosa ◽

Restriction Fragment ◽

Length Polymorphism ◽

Fragment Length ◽

Fragment Length Polymorphism ◽

Retinal Dystrophy ◽

Dna Restriction ◽

Restriction Fragment Length ◽

Pigmentary Retinal Dystrophy

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Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma--a new syndrome?

British Journal of Ophthalmology ◽

10.1136/bjo.69.8.624 ◽

1985 ◽

Vol 69 (8) ◽

pp. 624-628 ◽

Cited By ~ 25

Author(s):

S Ghose ◽

M S Sachdev ◽

H Kumar

Keyword(s):

Retinal Dystrophy ◽

Angle Closure Glaucoma ◽

Angle Closure ◽

Pigmentary Retinal Dystrophy

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pigmentary retinal dystrophy
Recently Published Documents

TOTAL DOCUMENTS

H-INDEX

Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene

Angle-closure glaucoma in a patient with the nanophthalmos-ocular cystinosis-foveoschisis-pigmentary retinal dystrophy complex

Rapid Vision Loss Secondary to Late Onset Pigmentary Retinal Dystrophy

Bilateral nanophthalmos and pigmentary retinal dystrophy—an unusual syndrome

Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy

Pigmentary retinal dystrophy associated with pigmentary glaucoma

CARRIER DETECTION IN X-PIGMENTARY RETINAL DYSTROPHY (X-LINKED RETINITIS PIGMENTOSA) BY DNA RESTRICTION FRAGMENT LENGTH POLYMORPHISM STUDIES

Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma--a new syndrome?

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pigmentary retinal dystrophyRecently Published Documents

TOTAL DOCUMENTS

H-INDEX

Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene

Angle-closure glaucoma in a patient with the nanophthalmos-ocular cystinosis-foveoschisis-pigmentary retinal dystrophy complex

Rapid Vision Loss Secondary to Late Onset Pigmentary Retinal Dystrophy

Bilateral nanophthalmos and pigmentary retinal dystrophy—an unusual syndrome

Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy

Pigmentary retinal dystrophy associated with pigmentary glaucoma

CARRIER DETECTION IN X-PIGMENTARY RETINAL DYSTROPHY (X-LINKED RETINITIS PIGMENTOSA) BY DNA RESTRICTION FRAGMENT LENGTH POLYMORPHISM STUDIES

Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma--a new syndrome?

pigmentary retinal dystrophy
Recently Published Documents