Knobloch syndrome
Overview
Knobloch syndrome: A rare genetic syndrome characterized by detachment of the retina of the eye and an occipital encephalocele (protrusion of brain tissue through gap in skull at the back of the head).
Symptoms
The list of signs and symptoms mentioned in various sources for Knobloch syndrome includes the 4 symptoms listed below: * Nearsightedness * Retinal detachment * Vitreoretinal detachment * Occipital encephalocele Note that Knobloch syndrome symptoms usually refers to various symptoms known to a patient, but the phrase Knobloch syndrome signs may refer to those signs only noticable by a doctor.
Causes
Any retinal tear or hole allows the liquid vitreous to seep between the retinal layers, separating the retina from its choroidal blood supply. Predisposing factors include myopia, intraocular surgery, and trauma. In adults, retinal detachment usually results from degenerative changes of aging, which cause a spontaneous retinal hole. Perhaps the influence of trauma explains why retinal detachment is twice as common in males. Retinal detachment may also result from seepage of fluid into the subretinal space (because of inflammation, tumors, or systemic diseases) or from traction that’s placed on the retina by vitreous bands or membranes (due to proliferative diabetic retinopathy, posterior uveitis, or a traumatic intraocular foreign body). Retinal detachment is rare in children, but occasionally can develop as a result of retinopathy of prematurity, tumors (retinoblastomas), trauma, or myopia (which tends to run in families). In the United States, approximately 10,000 people per year are affected by retinal detachments. Other Possible Causes of these Symptoms * Retinal detachment
Diagnosis
The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Knobloch syndrome. This medical information about signs and symptoms for Knobloch syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Knobloch syndrome signs or Knobloch syndrome symptoms. Furthermore, signs and symptoms of Knobloch syndrome may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Knobloch syndrome symptoms.