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
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 ...