Wagner syndrome

This is a rare hereditary syndrome of retinal and vitreoretinal degeneration. It is an autosomal dominant condition (1).

The disease was first described in 1938 by a Swiss ophthalmologist named Hans Wagner who observed a family with this condition (2) The disease is caused by a mutuation in the gene encoding chondroitin sulfate proteoglycan-2 or CSPG2 (also known as versican,) seen in the vitreous body of the eye (3).

Clinical finding include:

• vitreal syneresis with optically empty vitreous
• equatorial avascular vitreous veils
• mild to moderate myopia
• typical dot-like cortical cataracts
• abnormal retinal vessel architecture (inverted papilla)
• ectopic fovea
• perivascular pigmentation and sheathing
• retinal thinning
• slowly progressive chorioretinal atrophy (1)

Younger patients (under 20 years) usually have normal vision but with advancing age there may be visual loss (due to cataract, retinal detachment, optic atrophy, and chorioretinal atrophy) (1)

In addition, patients with Wagner syndrome have poor dark adaptation which results in night blindness (3). Stickler syndrome (caused by mutations in the type II collagen gene or COL2A1), an autosomal dominant connective tissue disease characterized by orofacial, skeletal, and auditory disorders, in addition to ocular manifestations can be differentiated from Wagner syndrome due to the presence of systemic features (3,4)

This syndrome belongs to the Stickler/Wagner group of disorders which may also include hypotonia, myopia, cataracts, retinal detachment, premature osteoarthritis, epiphyseal dysplasia, mid-facial hypoplasia, micrognathia and a large philtrum.

Comparison between type 1 Stickler syndrome and Wagner syndrome (5)

Reference:

• 1. Mukhopadhyay A et al. Erosive Vitreoretinopathy and Wagner Disease Are Caused by Intronic Mutations in CSPG2/Versican That Result in an Imbalance of Splice Variants. Investigative Ophthalmology & Visual Science 2006;47(8).
• 2. Wagner syndrome at www.wagnersyndrome.eu
• 3. Online Mendelian Inheritance in Man (OMIM). Wagners syndrome 1; WGN1
• 4. Miyamoto T et al. Identification of a Novel Splice Site Mutation of the CSPG2 Gene in a Japanese Family with Wagner Syndrome. Investigative Ophthalmology and Visual Science. 2005;46:2726-2735
• 5. Richards AJ et al. COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes. Br J Ophthalmol 2000;84:364-371