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

• Authors : Morillo Sánchez MJ; a Department of Ophthalmology , University Hospital Virgen Macarena , Seville , Spain.; Llavero Valero P

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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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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Posterior microphthalmos with retinal involvement related to MFRP gene: a report of 10 Brazilian patients.

• Authors : Amaral, Rebeca A. S.^1,2 (AUTHOR); Zin, Olivia A.^1,3 (AUTHOR); Moraes, Remo T.³ (AUTHOR)

• Source: Ophthalmic Genetics. Aug2024, Vol. 45 Issue 4, p413-420. 8p.

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Posterior Microphthalmos Pigmentary Retinopathy Syndrome

• Authors : Syed Saifuddin Adeel; Syed Mohideen KA; Anuj Sharma

Subjects: foveoschisis; mfrp gene; microphthalmos

• Source: Journal of Ophthalmic & Vision Research, Vol 18, Iss 2, Pp 240-244 (2023)

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Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye.

• Authors : Khan KN; a University College London Institute of Ophthalmology , University College London , London , UK.; b Medical Retina Service , Moorfields Eye Hospital , London , UK.

Subjects: Mutation*; Coloboma/Coloboma/Coloboma/*genetics ; Iris/Iris/Iris/*abnormalities

• Source: Ophthalmic genetics [Ophthalmic Genet] 2017 Sep-Oct; Vol. 38 (5), pp. 465-466. Date of Electronic Publication: 2016 Nov 28.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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A Patient with Keratoconus, Nanophthalmos, Lipodermoids, and Pigmentary Retinopathy.

• Authors : Sammouh FK; a Department of Ophthalmology , Saint George Hospital - University Medical Center , Beirut , Lebanon.; Baban TA

Subjects: Keratoconus/Keratoconus/Keratoconus/*complications ; Lipoma/Lipoma/Lipoma/*complications ; Microphthalmos/Microphthalmos/Microphthalmos/*complications

• Source: Ophthalmic genetics [Ophthalmic Genet] 2016 Jun; Vol. 37 (2), pp. 228-32. Date of Electronic Publication: 2016 Jan 15.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Complex Syndrome of Posterior Microphthalmos--Retinitis Pigmentosa--Foveoschisis--Optic Disc Drusen in a 13-year-old Boy.

• Authors : Ghadim, Banafsheh Kharrazi¹; Ahoor, Mohammad Hosein¹; Niyousha, Mohamad Reza¹

• Source: Erciyes Medical Journal / Erciyes Tip Dergisi. 2022, Vol. 44 Issue 6, p612-614. 3p.

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Detailed ophthalmologic evaluation of posterior microphthalmos

• Authors : Zeynep Alkin; Yalcin Karakucuk; Ahmet Demirok

Subjects: Male; Optic Disk; Vision, Low

• Source: Middle East Afr J Ophthalmol

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