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

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.