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Progressive bifocal chorioretinal atrophy, also known for its abbreviations PBCRA or CRAPB, [1] is a rare, slowly progressive, autosomal dominant syndrome characterized by relatively large-sized atrophic hole-shaped lesions in the macular and nasal retina, myopia, low visual acuity, and nystagmus.
Presumed ocular histoplasmosis syndrome (POHS) is a syndrome affecting the eye, which is characterized by peripheral atrophic chorioretinal scars, atrophy or scarring adjacent to the optic disc and maculopathy. The loss of vision in POHS is caused by choroidal neovascularization.
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).
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 ...
The optic nerve can be damaged when exposed to direct or indirect injury. Direct optic nerve injuries are caused by trauma to the head or orbit that crosses normal tissue planes and disrupts the anatomy and function of the optic nerve; e.g., a bullet or forceps that physically injures the optic nerve.
Birdshot chorioretinopathy, now commonly named birdshot uveitis or HLA-A29 uveitis, [1] is a rare form of bilateral posterior uveitis affecting both eyes.It causes severe, progressive inflammation of both the choroid and retina.
The optic disc may appear mildly hyperemic with small splinter hemorrhages on or around the disc, or may appear nearly normal. Optic atrophy typically develops later and may appear mild. In later stages the optic atrophy can become severe, which indicates less opportunity for recovery. [3]
[4] lf unilateral central scotoma is detected, careful observation of the temporal visual field of other eye is essential to rule out the possibility of compressive lesions at the junction of optic nerve and optic chiasm. [5] Other symptoms include absence of direct light reflex, afferent pupillary defect, defective colour vision, decreased ...