Wagner Syndrome

This syndrome is characterized by many optical malformations (e.g., 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. Often associated with Stickler syndrome.

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

First described in 1938 by Hans Wagner, Swiss ophthalmologist.

Autosomal dominant.

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

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

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. Others 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.

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

Difficult tracheal intubation because of micrognathia, receding chin, and cleft palate must be anticipated. A laryngeal mask airway or fiberoptic equipment should be available. Careful positioning of patient and proper padding of pressure point must be provided because of skeletal abnormalities.

Muscle relaxant should be avoided until airway is secured and lung ventilation confirmed. Medications for glaucoma include the organophosphates such as echothiophate and isofluorphate. These drugs inhibit serum cholinesterase, which is responsible for the hydrolysis and inactivation of succinylcholine and the ester-type local anesthetics (e.g., procaine, chloroprocaine and tetracaine). These ester-type local anesthetics should be avoided in patients treated with eye-drops containing organophosphate. Review current medication in view of glaucoma (avoid atropine and other drugs incriminated). Avoid drugs that may increase intraocular pressure in the presence of glaucoma.

Otospondylomegaepiphyseal Dysplasia (OSMED): A disease with peculiar facies and severe degenerative joint disease of the osteoarthritis type affecting predominantly the hips, knees, elbows, and shoulders.

Stickler Syndrome: This autosomal dominant inherited disorder is most often caused by mutation in the COL2A1 gene, while mutations in the COL11A1 and COL11A2 are less common. The pathognomonic feature is the abnormal vitreous gel architecture, which is associated with high, congenital, and nonprogressive myopia and a significantly increased risk of rhegmatogenous (associated with retinal tears) retinal detachment. According to the vitreous gel anomaly, two subtypes of Stickler syndrome can be distinguished (otherwise, the same clinical findings apply). Other signs include midface hypoplasia, flat nasal bridge, short nose with anteverted nares, micrognathia, and cleft palate. Joint hypermobility usually improves with age, while degenerative osteoarthritic symptoms (mainly hip and knee) are progressive and ...