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Is ultra wide-field retinal imaging alone appropriate for retinal angioma screening in lower risk subjects attending Von Hippel-Lindau (VHL) clinics?

• Authors : Mansfield Smith S; Department of Ophthalmology, Addenbrookes Hospital, Cambridge, UK.; Makam R

Subjects: Mutation*; Hemangioma/Hemangioma/Hemangioma/*diagnosis ; Ophthalmoscopy/Ophthalmoscopy/Ophthalmoscopy/*methods

• Source: Ophthalmic genetics [Ophthalmic Genet] 2019 Oct; Vol. 40 (5), pp. 403-406. Date of Electronic Publication: 2019 Oct 22.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene.

• Authors : De Zaeytijd, Julie; Coppieters, Frauke; De Bruyne, Marieke

Subjects: RETINAL degeneration; DYSTROPHY; RETROLENTAL fibroplasiaPAPHOS (Cyprus)

• Source: Ophthalmic Genetics; Oct2021, Vol. 42 Issue 5, p521-532, 12p

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Posterior Microphthalmos Versus Nanophthalmos.

• Authors : Khan, Arif O.¹ (AUTHOR)

Subjects: *LETTERS to the editor; *OPHTHALMOSCOPY

• Source: Ophthalmic Genetics. Dec2008, Vol. 29 Issue 4, p189-189. 1p.

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Multimodal imaging of an RPGR carrier female.

• Authors : Kilgore, David A.; Kilgore, Tyler A.; Sukpraprut-Braaten, Suporn

Subjects: DYSTROPHY; SCANNING laser ophthalmoscopy; RETINITIS pigmentosa

• Source: Ophthalmic Genetics; Jun2021, Vol. 42 Issue 3, p312-316, 5p

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The presence and progression of choroidal neurofibromas in a predominantly pediatric population with neurofibromatosis type-1.

• Authors : Chilibeck, Corina M.; Shah, Shaheen; Russell, Heather C.

Subjects: NEUROFIBROMATOSIS; OPTICAL coherence tomography; SCANNING laser ophthalmoscopy

• Source: Ophthalmic Genetics; Jun2021, Vol. 42 Issue 3, p223-229, 7p

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A novel dominant CRX mutation causes adult-onset macular dystrophy.

• Authors : Griffith, Joseph F.; DeBenedictis, Meghan J.; Traboulsi, Elias I.

Subjects: RETINAL degeneration; OPHTHALMOLOGY; NONSENSE mutation

• Source: Ophthalmic Genetics; Jan/Feb2018, Vol. 39 Issue 1, p120-124, 5p

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

• Authors : Sammouh, Fady K.; Baban, Tania A.; Warrak, Elias L.

Subjects: RETINAL diseases; KERATOCONUS; MICROPHTHALMIA

• Source: Ophthalmic Genetics; Jun2016, Vol. 37 Issue 2, p228-232, 5p

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Intrafamilial heterogeneity of congenital optic disc pit maculopathy.

• Authors : Rossi, Settimio; De Rosa, Giuseppe; D'Alterio, Francesco Maria

Subjects: OPTIC disc abnormalities; ELECTRORETINOGRAPHY; OPHTHALMOSCOPY

• Source: Ophthalmic Genetics; May/Jun2017, Vol. 38 Issue 3, p267-272, 6p

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Structural and functional characterization of an individual with the M285R KCNV2 hypomorphic allele.

• Authors : de Guimaraes, Thales A. C.; Lai, Francesco; Colombatti, Raffaella

• Source: Ophthalmic Genetics; Aug2024, Vol. 45 Issue 4, p425-434, 10p

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Bilateral macular holes and a new onset vitelliform lesion in Best disease.

• Authors : Liu, Jingshu¹ (AUTHOR); Xuan, Yi¹ (AUTHOR); Zhang, Yongjin¹ (AUTHOR)

Subjects: *RETINAL degeneration; *GENETIC mutation; *OPHTHALMOSCOPY

• Source: Ophthalmic Genetics. Jan/Feb2017, Vol. 38 Issue 1, p79-82. 4p.

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