Several mutations were found in the protein O-Mannosyltransferase POMT1 and POMT2 genes, and one mutation was found in each of the fukutin and fukutin-related protein genes. Another gene that has been linked to this condition is Beta-1,3-N-acetylgalactosaminyltransferase 2 (B3GALNT2). Diagnosis
Laboratory investigations usually show elevated creatine kinase, myopathic/dystrophic muscle pathology and altered α-dystroglycan. Antenatal diagnosis is possible in families with known mutations. Prenatal ultrasound may be helpful for diagnosis in families where the molecular defect is unknown. Prognosis
No specific treatment is available. Management is only supportive and preventive. Those who are diagnosed with the disease often die within the first few months of life. Almost all children with the disease die by the age of three. Eponym
WWS is named for Arthur Earl Walker and Mette Warburg (1926-2015), a Danish ophthalmologist. Its alternative names include Chemke’s syndrome and Pagon’s syndrome, named after Juan M. Chemke and Roberta A. Pagon. References
Further reading
HARD syndrome; Walker–Warburg syndrome; Chemke syndrome; COD (cerebroocular dysgenesis) at NIHs Office of Rare Diseases


== External links ==
Signs in phlyctenular keratoconjunctivitis include small yellow nodules that develop over the cornea, which ulcerate after a few days.A study by Klein et al. showed that in addition to the physical discomfort allergic conjunctivitis causes, it also alters patients routines, with patients limiting certain activities such as going outdoors, reading, sleeping, and driving. Therefore, treating patients with allergic conjunctivitis may improve their everyday quality of life. Causes
The cause of allergic conjunctivitis is an allergic reaction of the bodys immune system to an allergen. Allergic conjunctivitis is common in people who have other signs of allergic disease such as hay fever, asthma and eczema.Among the most common allergens that cause conjunctivitis are:
Pollen from trees, grass and ragweed
Animal skin and secretions such as saliva
Perfumes
Cosmetics
Skin medicines
Air pollution
Smoke
Dust mites
Balsam of Peru (used in food and drink for flavoring, in perfumes and toiletries for fragrance, and in medicine and pharmaceutical items for healing properties)
Eye drops (A reaction to preservatives in eye drops can cause toxic conjunctivitis)
Contact lens solution (some preservatives can irritate the eye over time resulting in conjunctivitis)
Contact lens (conjunctivitis is also caused by repeated mechanical irritation of the conjunctiva by contact lens wearers)Most cases of seasonal conjunctivitis are due to pollen and occur in the hay fever season, grass pollens in early summer and various other pollens and moulds may cause symptoms later in the summer. Pathophysiology
The ocular allergic response is a cascade of events that is coordinated by mast cells.