[Congenital pit of the optic nerve head with maculopathy--a case report]. 2011

Ewa Poppe, and Marzena Sajkowska, and Krzysztof Bandzul
Z Oddziału Okulistycznego Szpitala Wojewódzkiego w Łomzy. okulistykalomza@gmail.com

The aim of the article is to present the case of a fifty years old man suffering from congenital pit of the optic head with remission confirmed by OCT examination. The diagnosis was established after indirect ophtalmoscopy and OCT. Congenital pit of the head is a rare anomaly caused by the mutation of a PAX 2 gene. Location of the pathology and its symptoms cause difficulties in diagnosis and may indicate central serous choroidoretinopathy or glaucoma. Modern and non-invasive techniques show a two-layer structure at the edge of corpus vitreum and retina. Confirmation of congenital pit of the optic head has a prognostic value with other diseases of retina, such as hole of macula. Only 25% of cases have symptoms of remission without treatment. The rest require further monitoring and various methods of treatment, including vitrectomy.

UI MeSH Term Description Entries
D008266 Macula Lutea An oval area in the retina, 3 to 5 mm in diameter, usually located temporal to the posterior pole of the eye and slightly below the level of the optic disk. It is characterized by the presence of a yellow pigment diffusely permeating the inner layers, contains the fovea centralis in its center, and provides the best phototropic visual acuity. It is devoid of retinal blood vessels, except in its periphery, and receives nourishment from the choriocapillaris of the choroid. (From Cline et al., Dictionary of Visual Science, 4th ed) Lutea, Macula,Luteas, Macula,Macula Luteas
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009898 Optic Disk The portion of the optic nerve seen in the fundus with the ophthalmoscope. It is formed by the meeting of all the retinal ganglion cell axons as they enter the optic nerve. Blind Spot,Optic Disc,Optic Nerve Head,Optic Papilla,Blind Spots,Disc, Optic,Disk, Optic,Head, Optic Nerve,Nerve Head, Optic,Optic Discs,Optic Disks,Optic Nerve Heads,Optic Papillas,Papilla, Optic,Papillas, Optic,Spot, Blind
D009901 Optic Nerve Diseases Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect. Cranial Nerve II Diseases,Foster-Kennedy Syndrome,Optic Disc Disorders,Optic Disk Disorders,Optic Neuropathy,Second Cranial Nerve Diseases,Cranial Nerve II Disorder,Neural-Optical Lesion,Disc Disorder, Optic,Disk Disorder, Optic,Disorder, Optic Disc,Foster Kennedy Syndrome,Lesion, Neural-Optical,Neural Optical Lesion,Neural-Optical Lesions,Neuropathy, Optic,Optic Disc Disorder,Optic Disk Disorder,Optic Nerve Disease,Optic Neuropathies,Syndrome, Foster-Kennedy
D012160 Retina The ten-layered nervous tissue membrane of the eye. It is continuous with the OPTIC NERVE and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the CHOROID and the inner surface with the VITREOUS BODY. The outer-most layer is pigmented, whereas the inner nine layers are transparent. Ora Serrata
D012163 Retinal Detachment Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Retinal detachment occurs more commonly in men than in women, in eyes with degenerative myopia, in aging and in aphakia. It may occur after an uncomplicated cataract extraction, but it is seen more often if vitreous humor has been lost during surgery. (Dorland, 27th ed; Newell, Ophthalmology: Principles and Concepts, 7th ed, p310-12). Retinal Pigment Epithelial Detachment,Detachment, Retinal,Detachments, Retinal,Retinal Detachments
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014792 Visual Acuity Clarity or sharpness of OCULAR VISION or the ability of the eye to see fine details. Visual acuity depends on the functions of RETINA, neuronal transmission, and the interpretative ability of the brain. Normal visual acuity is expressed as 20/20 indicating that one can see at 20 feet what should normally be seen at that distance. Visual acuity can also be influenced by brightness, color, and contrast. Acuities, Visual,Acuity, Visual,Visual Acuities

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