Ghent University Academic Bibliography

Journal Article
A1
open access

Foveal hypoplasia in Myhre syndrome : a novel association

Helena Van Haecke, Eva Vanbelleghem (UGent) , Elke O. Kreps (UGent) and Bert Callewaert (UGent)

(2025) OPHTHALMIC GENETICS. 46(6). p.662-664

Journal Article
A1
open access

Pseudocolobomatous autosomal dominant atrophic maculopathy (PADAM)

Jonathan Hensman, Mary J. van Schooneveld, Roselie M. H. Diederen, Astrid S. Plomp, Cansu de Muijnck, Jacoline B. Ten Brink, Ralph J. Florijn, Elfride De Baere (UGent) , Maria M. van Genderen and Camiel J. F. Boon

(2025) OPHTHALMIC GENETICS. 46(5). p.468-473

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Journal Article
A1
open access

Ligneous conjunctivitis mimicking preseptal cellulitis in a 3-month-old infant

Valentien Merlevede, Virginie Ninclaus (UGent) , Dimitri Roels (UGent) , Liesbeth Huys (UGent) , Bert Callewaert (UGent) and Elke O. Kreps (UGent)

(2023) OPHTHALMIC GENETICS. 44(1). p.103-106

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Journal Article
A1
open access

Optic nerve involvement in CACNA1F-related disease : observations from a multicentric case series

Elisa Marziali, Filip Van Den Broeck (UGent) , Sara Bargiacchi, Pina Fortunato, Roberto Caputo, Andrea Sodi, Julie De Zaeytijd (UGent) , Vittoria Murro, Dario Pasquale Mucciolo, Dario Giorgio, et al.

(2023) OPHTHALMIC GENETICS. 44(2). p.152-162

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High myopia and vitreal veils in a patient with Poretti- Boltshauser syndrome due to a novel homozygous LAMA1 mutation

Nawid Faizi, Ingele Casteels, Bruno Termote, Paul Coucke (UGent) , Elfride De Baere (UGent) , Marieke De Bruyne (UGent) and Irina Balikova (UGent)

(2022) OPHTHALMIC GENETICS. 43(5). p.653-657

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Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene

Justine Vandeputte, Mattias Van Heetvelde (UGent) , Caroline Van Cauwenbergh, Sara Seneca, Elfride De Baere (UGent) , Bart Leroy (UGent) and Julie De Zaeytijd (UGent)

(2021) OPHTHALMIC GENETICS. 42(4). p.440-445

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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

Julie De Zaeytijd (UGent) , Frauke Coppieters (UGent) , Marieke De Bruyne (UGent) , Jasper Van Royen, Dimitri Roels (UGent) , Rani Six (UGent) , Caroline Van Cauwenbergh, Elfride De Baere (UGent) and Bart Leroy (UGent)

(2021) OPHTHALMIC GENETICS. 42(5). p.521-532

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Journal Article
A1
open access

Expanding the clinical spectrum and management of traboulsi syndrome : report on two siblings homozygous for a novel pathogenic variant in ASPH

Tom Van Hoorde, Fanny Nerinckx (UGent) , Elke O. Kreps (UGent) , Dimitri Roels (UGent) , Philippe Huyghe, Mattias Van Heetvelde (UGent) , Hannah Verdin (UGent) , Elfride De Baere (UGent) , Irina Balikova (UGent) and Bart Leroy (UGent)

(2021) OPHTHALMIC GENETICS. 42(4). p.493-499

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Journal Article
A1
open access

Three cases of molecularly confirmed Knobloch syndrome

Irina Balikova, Nuri Serdal Sanak, Depasse Fanny, Guillaume Smits, Julie Soblet, Elfride De Baere (UGent) and Monique Cordonnier

(2020) OPHTHALMIC GENETICS. 41(1). p.83-87

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Ophthalmic findings in patients with arterial tortuosity syndrome and carriers : a case series

Joshua S Hardin, Yuri A Zarate, Bert Callewaert (UGent) , Paul H Phillips and David B Warner

(2018) OPHTHALMIC GENETICS. 39(1). p.29-34

Academic Bibliography

Foveal hypoplasia in Myhre syndrome : a novel association

Pseudocolobomatous autosomal dominant atrophic maculopathy (PADAM)

Ligneous conjunctivitis mimicking preseptal cellulitis in a 3-month-old infant

Optic nerve involvement in CACNA1F-related disease : observations from a multicentric case series

High myopia and vitreal veils in a patient with Poretti- Boltshauser syndrome due to a novel homozygous LAMA1 mutation

Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene

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

Expanding the clinical spectrum and management of traboulsi syndrome : report on two siblings homozygous for a novel pathogenic variant in ASPH

Three cases of molecularly confirmed Knobloch syndrome

Ophthalmic findings in patients with arterial tortuosity syndrome and carriers : a case series

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