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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.
Retinoschisin also known as X-linked juvenile retinoschisis protein is a lectin [5] [6] that in humans is encoded by the RS1 gene. [7]It is a soluble, cell-surface protein that plays an important role in the maintenance of the retina where it is expressed and secreted by retinal bipolar cells and photoreceptors, [8] [9] as well as in the pineal gland. [10]
(H33.1) Retinoschisis and retinal cysts — the retina separates into several layers and may detach Cyst of ora serrata; Parasitic cyst of retina NOS; Pseudocyst of retina Excludes: congenital retinoschisis (Q14.1) microcystoid degeneration of retina (H35.4) (H33.2) Serous retinal detachment Retinal detachment: NOS; without retinal break
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.
[1] [2] [3] The condition occurs in predominantly middle-aged women. [ 1 ] [ 4 ] [ 3 ] Iridocorneal Endothelial (ICE) syndrome presents a unique set of challenges for both patients and ophthalmologists , and effective treatment of this group of rare ocular diseases requires a combination of diagnostic and therapeutic complexity.
Cranioschisis (Greek: κρανιον kranion, "skull", and σχίσις schisis, "split") is a skull-related neural tube defect. The skull does not close all the way in this deformity (especially at the occipital region). As a result, the amniotic fluid enters the brain, leading to eventual brain degeneration and anencephaly. [1]
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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 ...