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Academic Journal

Generation of the induced pluripotent stem cell line IOCVi001-A from a patient with the MFRP-related retinitis pigmentosa-nanophthalmos syndrome.

  • Authors : Mora-Roldan GA; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico; Biomedical Research Institute, Department of Genomic Medicine, National Autonomous University of Mexico (UNAM), Mexico City, Mexico.

Subjects: Microphthalmos*/Microphthalmos*/Microphthalmos*/genetics ; Microphthalmos*/Microphthalmos*/Microphthalmos*/metabolism ; Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/metabolism RHYNS syndrome

  • Source: Stem cell research [Stem Cell Res] 2024 Mar; Vol. 75, pp. 103309. Date of Electronic Publication: 2024 Jan 09.Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753

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Academic Journal

A unique case of bilateral nanophthalmos and pigmentary retinal abnormality with unilateral angle closure glaucoma and optic disc pit.

  • Authors : Garg P; Dr. Shroff Charity Eye Hospital, Kedarnath Lane, 110002, New Delhi, India. .; Kumar B

Subjects: Microphthalmos*/Microphthalmos*/Microphthalmos*/complications ; Microphthalmos*/Microphthalmos*/Microphthalmos*/diagnosis ; Optic Disk*

  • Source: BMC ophthalmology [BMC Ophthalmol] 2023 Sep 26; Vol. 23 (1), pp. 391. Date of Electronic Publication: 2023 Sep 26.Publisher: BioMed Central Country of Publication: England NLM ID: 100967802 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2415

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Academic Journal

Retinitis pigmentosa and nanophthalmos in a patient with attenuated Hunter's syndrome.

Subjects: Mucopolysaccharidosis II*/Mucopolysaccharidosis II*/Mucopolysaccharidosis II*/complications ; Mucopolysaccharidosis II*/Mucopolysaccharidosis II*/Mucopolysaccharidosis II*/diagnosis ; Mucopolysaccharidosis II*/Mucopolysaccharidosis II*/Mucopolysaccharidosis II*/therapy

  • Source: Documenta ophthalmologica. Advances in ophthalmology [Doc Ophthalmol] 2023 Jun; Vol. 146 (3), pp. 273-279. Date of Electronic Publication: 2023 Feb 20.Publisher: Kluwer Country of Publication: Netherlands NLM ID: 0370667 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2622

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Academic Journal

NOVEL MFRP MUTATION WITH NANOPHTHALMOS, OPTIC DISK DRUSEN, AND PERIPHERAL RETINOSCHISIS IMAGED WITH ULTRA-WIDEFIELD OPTICAL COHERENCE TOMOGRAPHY.

  • Authors : Kovacs KD; Department of Ophthalmology, Weill Cornell Medical College, New York, New York.; Van Tassel SH

Subjects: Microphthalmos* ; Optic Disk Drusen* ; Retinoschisis*/Retinoschisis*/Retinoschisis*/complications

  • Source: Retinal cases & brief reports [Retin Cases Brief Rep] 2023 May 01; Vol. 17 (3), pp. 269-272.Publisher: Wolters Kluwer Health Country of Publication: United States NLM ID: 101298744 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

MFRP variant results in nanophthalmos, retinitis pigmentosa, variability in foveal avascular zone.

  • Authors : Vanden Heuvel C; Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.; Aldred B

Subjects: Microphthalmos*/Microphthalmos*/Microphthalmos*/diagnosis ; Microphthalmos*/Microphthalmos*/Microphthalmos*/genetics ; Microphthalmos*/Microphthalmos*/Microphthalmos*/complications

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2023 Feb; Vol. 44 (1), pp. 83-88. Date of Electronic Publication: 2022 Jul 26.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Optic disc drusen prevalence in the retinitis pigmentosa population.

  • Authors : Russell N; Save Sight Institute, 8 Macquarie Street, Sydney, NSW, 2000, Australia. .; Fraser C

Subjects: Optic Disk Drusen*/Optic Disk Drusen*/Optic Disk Drusen*/epidemiology ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/epidemiology ; Microphthalmos*

  • Source: Eye (London, England) [Eye (Lond)] 2022 Nov; Vol. 36 (11), pp. 2213. Date of Electronic Publication: 2022 Feb 25.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8703986 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia.

  • Authors : Godinho G; Department of Ophthalmology, Centro Hospitalar e Universitário São João , Porto, Portugal.; Madeira C

Subjects: Mutation*; Eye Diseases, Hereditary/Eye Diseases, Hereditary/Eye Diseases, Hereditary/*pathology ; Fovea Centralis/Fovea Centralis/Fovea Centralis/*abnormalities Foveal Hypoplasia, Isolated

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2020 Oct; Vol. 41 (5), pp. 474-479. Date of Electronic Publication: 2020 Jul 23.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Posterior microphthalmos with pigmentary retinopathy.

  • Authors : C Parameswarappa D; Smt Kanuri Santhamma Centre for Vitreo-Retina Diseases, LV Prasad Eye Institute, Hyderabad, India.; Dogra A

Subjects: Microphthalmos/Microphthalmos/Microphthalmos/*diagnosis ; Retinitis Pigmentosa/Retinitis Pigmentosa/Retinitis Pigmentosa/*diagnosis; Electroretinography

  • Source: BMJ case reports [BMJ Case Rep] 2020 Nov 30; Vol. 13 (11). Date of Electronic Publication: 2020 Nov 30.Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X

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Academic Journal

Clinical and Genetic Analysis of Retinitis Pigmentosa with Primary Angle Closure Glaucoma in the Chinese Population.

  • Authors : Wang DD; Eye Institute, Eye and ENT Hospital, Shanghai Medical College, Fudan University, Shanghai, China.; Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, China.

Subjects: Glaucoma, Angle-Closure*/Glaucoma, Angle-Closure*/Glaucoma, Angle-Closure*/diagnosis ; Glaucoma, Angle-Closure*/Glaucoma, Angle-Closure*/Glaucoma, Angle-Closure*/epidemiology ; Glaucoma, Angle-Closure*/Glaucoma, Angle-Closure*/Glaucoma, Angle-Closure*/genetics

  • Source: Current eye research [Curr Eye Res] 2022 Sep; Vol. 47 (9), pp. 1339-1345. Date of Electronic Publication: 2022 Aug 03.Publisher: Informa Healthcare Country of Publication: England NLM ID: 8104312 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the MFRP gene: a familial study.

Subjects: Genetic Predisposition to Disease* ; Mutation*; Fovea Centralis/Fovea Centralis/Fovea Centralis/*pathology

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2019 Jun; Vol. 40 (3), pp. 288-292. Date of Electronic Publication: 2019 Jul 02.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  88 results for ""Microphthalmos""