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Peer-reviewedCC BY-NCBeyoglu eye journal

Clinical Manifestations of a Hereditary Vitreoretinopathy with Wagner Phenotype in a Multigenerational Turkish Family.

  • Raciha Beril Kucumen1
  • Ozge Yabas Kiziloglu1
  • Asuman Koparir2
  • Nursal Melda Yenerel3
  • Ebru Gorgun4
  • Ilke Bahceci Simsek1
  • Mustafa Ozen5
5 affiliations
  1. 1Department of Ophthalmology, Yeditepe University, Istanbul, Türkiye.
  2. 2Department of Human Genetics, Wuerzburg University, Würzburg, Germany.
  3. 3Department of Ophthalmology, Medipol University, Istanbul, Türkiye.
  4. 4Department of Ophthalmolgy, Etiler Dunya Goz Hospital, Istanbul, Türkiye.
  5. 5Department of Medical Genetics, Istanbul Unıversity, Istanbul, Türkiye.
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Abstract

Objectives

To report long-term clinical manifestations and genetic findings of a hereditary vitreoretinopathy exhibiting phenotypical characteristics of Wagner Syndrome in a multigenerational Turkish family originating from the same district in Central Anatolia.Methods

Data from detailed medical histories and ophthalmological examinations were evaluated. Family pedigree was constructed. PCR and sequence analysis were performed to assess splice sites of introns 7 and 8 of the VCAN gene associated with Wagner syndrome.Results

Thirty family members were examined, and 21 affected individuals were followed for 2-18 years. Cohort included 12 females and 9 males, with a mean age of 31±19 years (4-71), mean spherical equivalent of -3.87±5.03 diopters. Sixteen patients (76%) were myopic (≤-0.50 D). Rhegmatogenous retinal detachment (RD) was presenting diagnosis in seven patients (33%). Hollow vitreous cavity with fibrous bands was detected in nine individuals (43%). Peripheral retinal pathology included multiple breaks in 16/21 (76%), snail-track degeneration in 3/21 (14%), lattice degeneration in 5/21 (24%), white without pressure in 2/21 (9.5%). One 20-year-old male with bilateral RD also had an optic nerve head astrocytoma. Mean age at onset was 21.6±13.5 years (4-50). Earliest RD occurred at age 10, retinal breaks with attached retina were identified at age 8. Youngest patient (age 4) exhibited high axial myopia and vitreous bands. Laser prophylaxis was effective in 10 patients, although one later developed RD. Three patients (14%) developed phthisis, seven (33%) underwent cataract surgery, and four (19%) had glaucoma. Sequence analysis revealed no mutations in VCAN intron 7 or 8 splice sites.Conclusions

This study presents a Turkish family with hereditary vitreoretinopathy exhibiting phenotypical characteristics of Wagner Syndrome. Although genetic analysis was inconclusive, detailed presentation of long-term clinical manifestations may provide valuable information about hereditary vitreoretinopathies and emphasize the importance of early and regular follow-up and prophylactic treatment for prevention of RD.

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Cite

BibTeXRIS
BibTeX
@article{kucumen2026clinical,
  title = {{Clinical Manifestations of a Hereditary Vitreoretinopathy with Wagner Phenotype in a Multigenerational Turkish Family.}},
  author = {Raciha Beril Kucumen and Ozge Yabas Kiziloglu and Asuman Koparir and Nursal Melda Yenerel and Ebru Gorgun and Ilke Bahceci Simsek and Mustafa Ozen},
  journal = {Beyoglu eye journal},
  year = {2026},
  month = oct,
  doi = {10.14744/bej.2026.47108},
  url = {https://europepmc.org/article/MED/42898745},
  note = {CC BY-NC},
}
RIS
TY  - JOUR
TI  - Clinical Manifestations of a Hereditary Vitreoretinopathy with Wagner Phenotype in a Multigenerational Turkish Family.
AU  - Raciha Beril Kucumen
AU  - Ozge Yabas Kiziloglu
AU  - Asuman Koparir
AU  - Nursal Melda Yenerel
AU  - Ebru Gorgun
AU  - Ilke Bahceci Simsek
AU  - Mustafa Ozen
PY  - 2026
DA  - 2026/10/01
JO  - Beyoglu eye journal
DO  - 10.14744/bej.2026.47108
UR  - https://europepmc.org/article/MED/42898745
AB  - Objectives  To report long-term clinical manifestations and genetic findings of a hereditary vitreoretinopathy exhibiting phenotypical characteristics of Wagner Syndrome in a multigenerational Turkish family originating from the same district in Central Anatolia.Methods  Data from detailed medical histories and ophthalmological examinations were evaluated. Family pedigree was constructed. PCR and sequence analysis were performed to assess splice sites of introns 7 and 8 of the VCAN gene associated with Wagner syndrome.Results  Thirty family members were examined, and 21 affected individuals were followed for 2-18 years. Cohort included 12 females and 9 males, with a mean age of 31±19 years (4-71), mean spherical equivalent of -3.87±5.03 diopters. Sixteen patients (76%) were myopic (≤-0.50 D). Rhegmatogenous retinal detachment (RD) was presenting diagnosis in seven patients (33%). Hollow vitreous cavity with fibrous bands was detected in nine individuals (43%). Peripheral retinal pathology included multiple breaks in 16/21 (76%), snail-track degeneration in 3/21 (14%), lattice degeneration in 5/21 (24%), white without pressure in 2/21 (9.5%). One 20-year-old male with bilateral RD also had an optic nerve head astrocytoma. Mean age at onset was 21.6±13.5 years (4-50). Earliest RD occurred at age 10, retinal breaks with attached retina were identified at age 8. Youngest patient (age 4) exhibited high axial myopia and vitreous bands. Laser prophylaxis was effective in 10 patients, although one later developed RD. Three patients (14%) developed phthisis, seven (33%) underwent cataract surgery, and four (19%) had glaucoma. Sequence analysis revealed no mutations in VCAN intron 7 or 8 splice sites.Conclusions  This study presents a Turkish family with hereditary vitreoretinopathy exhibiting phenotypical characteristics of Wagner Syndrome. Although genetic analysis was inconclusive, detailed presentation of long-term clinical manifestations may provide valuable information about hereditary vitreoretinopathies and emphasize the importance of early and regular follow-up and prophylactic treatment for prevention of RD.
SN  - 2459-1777
SN  - 2587-0394
ER  -