Hereditary Hyaloideoretinopathies With Optically Empty Vitreous: Wagner and Stickler Syndromes
The hallmark of the group of conditions known as hereditary hyaloideoretinopathies is vitreous liquefaction (synchysis) that results in an optically empty cavity except for a thin layer of cortical vitreous behind the lens and threadlike, avascular membranes that run circumferentially and adhere to the retina. Fundus abnormalities include equatorial and perivascular (radial) lattice degeneration. The ERG response may be subnormal.
In Wagner disease, the optically empty vitreous is accompanied by myopia, strabismus, and cataract, but there are no associated systemic findings. It is not associated with retinal detachment and has an autosomal dominant inheritance pattern.
Stickler syndrome is the most common variety of hereditary hyaloideoretinopathy with associated systemic findings (Fig 17-10) and is transmitted as an autosomal dominant trait. Most patients have a mutation in the gene COL2A1, which encodes type II procollagen. Various mutations may produce Stickler syndrome phenotypes of differing severity. Additional ocular abnormalities include myopia, open-angle glaucoma, and cataract. Orofacial findings include midfacial flattening and the Pierre Robin malformation complex of cleft palate, micrognathia, and glossoptosis. These abnormalities may be dramatic at birth, requiring tracheostomy, or they may not be obvious at all. Generalized skeletal abnormalities include joint hyperextensibility and enlargement; arthritis, particularly of the knees; and mild spondyloepiphyseal dysplasia. Early recognition of this syndrome is very important because of the high incidence of retinal detachment. In one case series, retinal tears were associated with mutations in COL2A1 in 91% of cases and retinal detachments in 53%. The detachments may be difficult to repair because of multiple, posterior, or large breaks and a tendency toward proliferative vitreoretinopathy. Patients with this condition typically have cortical vitreous condensations that are firmly adherent to the retina. For this reason, prophylactic treatment of retinal breaks should be considered. (See the section Prophylactic Treatment of Retinal Breaks in Chapter 16.)
Figure 17-10 Color fundus photograph shows extensive lattice degeneration and pigmentary change in a patient with Stickler syndrome.
(Courtesy of William F. Mieler, MD.)
Other forms of hereditary hyaloideoretinopathy associated with systemic abnormalities include Weill-Marchesani syndrome and some varieties of dwarfism.
Maumenee IH. Vitreoretinal degeneration as a sign of generalized connective tissue diseases. Am J Ophthalmol. 1979;88(3 Pt 1):432–449.
Rose PS, Levy HP, Liberfarb RM, et al. Stickler syndrome: clinical characteristics and diagnostic criteria. Am J Med Genet A. 2005;138A(3):199–207.
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.