Wagner Syndrome

At a glance

This is a rare inherited vitreoretinopathy characterized by many optical malformations (eg, ensheathed retinal vessels, retinal pigmentation, circular membranes in a liquefied vitreous, choroidal atrophy) with a progressive clinical course that ends with optic atrophy and blindness. Other features include light-sensitive tissue that lines the retina, cataracts, and glaucoma. These may cause retinal detachment. Patients with unexplained early onset cataract or retinal detachment should be carefully evaluated for vitreoretinal degeneration. Often misdiagnosed for Stickler Syndrome; however, lacks the systemic features and the high incidence of retinal detachment seen with this latter condition differs between both disorders.

Synonyms

Wagner Vitreoretinal Degeneration; Wagner Haloid Retinal Degeneration Syndrome; Erosive Vitreoretinopathy; Hyaloideoretinal Degeneration of Wagner.

History

This syndrome was first described in 1938 by Hans Wagner, a Swiss ophthalmologist. He identified this medical condition in 13 members of a family from the Canton of Zurich. All individuals presented with peculiar lesions of the vitreous and retina.

Incidence

It is a rare genetic disorder and the exact prevalence remains unknown. The medical literature reports thus far 300 affected individuals worldwide. About half of these individuals are located in the Netherlands.

Genetic inheritance

It is inherited as an autosomal dominant trait.

Pathophysiology

Unknown. Causal gene is located on chromosome 5 (in the 5q13–q14 area).

Diagnosis

Subnormal electroretinographic response (ERG), retinal detachment associated with poor surgical prognosis, lattice degeneration, retinoschisis, cataract, and glaucoma.

Clinical aspects

Optical features include an optically empty vitreous cavity that is pervaded by a few vitreous fibers or membranes, narrow and sheathed retinal vessels, pigment spots in the peripheral fundus or along the retinal vessels, atrophy of the choroids, complicated cataract, myopia, concentric contraction of the visual fields, and, in the advance stage, optic atrophy. Other features involve the head (characteristic facies: epicanthus, broad sunken nasal bridge, receding chin associated with micrognathia and cleft palate). Accelerated growth occurs, together with skeletal abnormalities such as broad proximal phalanges, broad middle phalanges, and genu valgum.

Precautions before anesthesia

Careful assessment of airway (clinical, radiographs, fiberoptic if necessary).

Anesthetic considerations

Difficult tracheal intubation must be anticipated due to the presence of micrognathia, receding chin, and cleft palate. It is recommended to have proper size laryngeal mask airway available at the time of induction of anesthesia. When available, the use of fiberoptic equipment may have to be considered. The presence of glaucoma must be taken in to consideration during the conduct of anesthesia. Because of the presence of skeletal abnormalities, careful positioning of the patient and placement of proper padding material must be used ...