Search results
Results from the WOW.Com Content Network
Retinoschisis is an eye disease characterized by the abnormal splitting of the retina's neurosensory layers, usually in the outer plexiform layer.Retinoschisis can be divided into degenerative forms which are very common and almost exclusively involve the peripheral retina and hereditary forms which are rare and involve the central retina and sometimes the peripheral retina.
J E MacVicar et al. describes 2 brothers, product of a consanguineous marriage, who exhibited signs of "idiopathic retinoschisis and early hemeralopia, Goldmann-Favre type" alongside other symptoms such as an angiomatosis-like tumor present in one brother and a lamellar macular hole in the other brother. They also described two unaffected ...
Retinal vasculopathy with cerebral leukocencephalopathy and systemic manifestations (RVCL or RVCL-S, also previously known as retinal vasculopathy with cerebral leukodystrophy, RVCL; or cerebroretinal vasculopathy, CRV; or hereditary vascular retinopathy, HVR; or hereditary endotheliopathy, retinopathy, nephropathy, and stroke, HERNS) is an inherited condition resulting from a frameshift ...
The most popular theory behind this association is a separation of the layers of the retina, known as retinoschisis, due to fluid (the vitreous humour) entering the optic pit and traveling between the inner and outer layers of the retina. The outer layer may then subsequently detach. Evidence of retinoschisis has been demonstrated using OCT.
Retinitis pigmentosa (RP) is a member of a group of genetic disorders called inherited retinal dystrophy (IRD) that cause loss of vision. [1] Symptoms include trouble seeing at night and decreasing peripheral vision (side and upper or lower visual field). [1]
Many cases are asymptomatic, however patients many have decreased vision, glare, monocular diplopia or polyopia, and noticeable iris changes. [2] [5] On exam patients have normal to decreased visual acuity, and a "beaten metal appearance" of the corneal endothelium, corneal edema, increased intraocular pressure, peripheral anterior synechiae, and iris changes.
BCD is inherited in an autosomal recessive manner. [2] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder.
Wiedemann–Steiner syndrome (WSS) [2] is a rare genetic disorder that causes developmental delay, unusual facial features, short stature, and reduction in muscle tone ().The syndrome was originally described in 1989 [3] by Hans-Rudolf Wiedemann.