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Heterochromia of the eye is called heterochromia iridum or heterochromia iridis. It can be complete, sectoral, or central. In complete heterochromia, one iris is a different color from the other. In sectoral heterochromia, part of one iris is a different color from its remainder.
Blepharophimosis forms a part of blepharophimosis, ptosis, epicanthus inversus syndrome (BPES), also called blepharophimosis syndrome, which is an autosomal dominant condition characterised by blepharophimosis, ptosis (upper eyelid drooping), epicanthus inversus (skin folds by the nasal bridge, more prominent lower than upper lid) and telecanthus (widening of the distance between the inner ...
Vision loss in dominant optic atrophy is due to optic nerve fiber loss from mitochondria dysfunction. Dominant optic atrophy is associated with mutation of the OPA1 gene [9] found on chromosome 3, region q28-qter. Also, 5 other chromosomal genes are described as causing optic atrophy: OPA2 (x-linked), OPA3 (dominant), OPA4 (dominant), OPA5 ...
A pale disc is characteristic of long-standing optic neuropathy. In many cases, only one eye is affected and a person may not be aware of the loss of color vision until the examiner asks them to cover the healthy eye. Optic neuropathy is often called optic atrophy, to describe the loss of some or most of the fibers of the optic nerve.
Inflammation of the optic nerve head is called "papillitis" or "intraocular optic neuritis"; inflammation of the orbital portion of the nerve is called "retrobulbar optic neuritis" or "orbital optic neuritis". [1] It is often associated with substantial losses in visual fields, pain on moving the globe, and sensitivity to light pressure on the ...
A necropsy study of 737 cases showed a 2.4% incidence with 2 out of 15 (13%) bilateral, [2] perhaps indicating the insidious nature of many cases. An autosomal dominant inheritance pattern with incomplete penetrance and associated inherited dysplasia of the optic disc and its blood supply is suspected.
Recently, central serous chorioretinopathy has been understood to be part of the pachychoroid spectrum. [5] [6] In pachychoroid spectrum disorders, of which CSR represents stage II, the choroid, the highly vascularized layer below the retina, is thickened and congested with increased blood vessel diameter, especially in the deep choroid (the so-called Haller's layer).
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.