| ¿µ¹® | atrophy | ÇÑ±Û | À§Ãà(Áõ) |
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| ¼³¸í | Á¶Á÷À̳ª ¼¼Æ÷ ȤÀº ±â°üÀÇ Å©±â°¡ ¿ø·¡ÀÇ Å©±â¿¡ ºñÇÏ¿© ÁÙ¾îµå´Â °ÍÀ» ÀÏÄ´ ¸». óÀ½ºÎÅÍ Å©±â°¡ ÀÛÀº ¹«Çü¼º/Çü¼ºÀúÇÏÁõ(aplasia/hypoplasia)¿Í ±¸º°µÈ´Ù. |
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| ¿µ¹® | optic nerve | ÇÑ±Û | ½Ã°¢½Å°æ |
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| ¼³¸í | ½Ã°¢À» ÀÎÁöÇÏ´Â ½Å°æ. ÀÌ ½Å°æÀº ´ÜÁö °¨°¢½Å°æÀ¸·Î¼¸¸ ÀÛ¿ëÇÑ´Ù. µû¶ó¼ ¾î¶² »ç¹°À» µû¶ó ´«À» ¿òÁ÷ÀÏ ¼ö ÀÖ´Â °ÍÀº ÀÌ ½Ã°¢½Å°æ°ú´Â ¹«°üÇÏ´Ù(À̰ÍÀº ´«µ¹¸²½Å°æ(oculomotor nerve)¿¡ ÀÇÇØ °¡´ÉÇÏ´Ù). ¶ÇÇÑ ½Ã°¢½Å°æÀº °íÀ§ÁßÃ߽Űæ°èÀÎ ³ú¿¡¼ Á÷Á¢ ºÐÁöÇϹǷΠ¼Õ»ó½Ã Àç»ýÀº ºÒ°¡´ÉÇϸç, ÀÌ¿¡ ´ëÇÑ Ä¡·á¹ýÀº ¾ø´Ù. |
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| LOA | leave of absence; Leber optic atrophy; left occipitoanterior [fetal position] |
|---|---|
| LHON | Leber hereditary optic neuropathy |
| DIDMOA | diabetes insipidus-diabetes mellitus-optic atrophy [syndrome] |
| DIMOAD | diabetes insipidus, diabetes mellitus, optic atrophy, deafness |
| DJOA | dominant juvenile optic atrophy |
| LHON | Leber hereditary optic neuropathy |
|---|---|
| LHON | Leber hereditary optic neuroretinopathy |
| HCSMA | Hereditary Canine Spinal Muscular Atrophy |
| LCA | Leber Congenital Amaurosis |
| CA | Cerebellar atrophy |
| Leber's hereditary optic atrophy | Hereditary degeneration of the optic nerve and papillomacular bundle with resulting rapid loss of central vision, progressive for several weeks, then usually stationary with permanent central scotoma; age of onset is variable, most often in the third decade; more males than females are affected and transmission is cytoplasmic and strictly on the female side. Mutation on the mitochondrial chromosome involved, which presumably interacts with an X-linked mutant. This mechanism may explain the bizarre sex ratio, which differs significantly from one country to another. (05 Mar 2000) |
|---|
| optic atrophy, hereditary | An inherited disorder in which optic atrophy is associated with muscle weakness, peroneal muscular atrophy and, in some patients, lancinating pains. In these patients the peripheral sensory neurons are probably affected. (12 Dec 1998) |
|---|---|
| optic atrophy | Atrophy of the optic disk resulting from degeneration of the nerve fibres of the optic nerve and optic tract. (12 Dec 1998) |
| amaurosis congenita of Leber | An autosomal recessive cone-rod abiotrophy causing blindness or severely reduced vision at birth. (05 Mar 2000) |
| Leber's idiopathic stellate neuroretinitis | A unilateral neuroretinitis with perifoveal exudates in Henle's nerve fibre layer producing a macular star and spontaneous regression in a few months. Synonym: Leber's idiopathic stellate neuroretinitis. (05 Mar 2000) |
| Leber's idiopathic stellate retinopathy | An inflammation affecting the optic nerve head and the posterior pole of the retina, with cells in the nearby vitreous, usually producing a macular star. Synonym: papilloretinitis. (05 Mar 2000) |
| Leber's plexus | A small venous plexus in the eye between the venous sinuses of the sclera (of Schlemm) and the spaces of the iridocorneal angle (of Fontana). (05 Mar 2000) |
| Leber, Theodor | <person> German ophthalmologist, 1840-1917. See: Leber's idiopathic stellate neuroretinitis, Leber's hereditary optic atrophy, Leber's plexus, amaurosis congenita of Leber. (05 Mar 2000) |
| Albright's hereditary osteodystrophy | An inherited form of hyperparathyroidism associated with ectopic calcification and ossification and skeletal defects, notably the small fourth metacarpals, but intelligence is normal. There are dominant, recessive and X-linked forms. See: pseudohypoparathyroidism. Synonym: Albright's syndrome. (05 Mar 2000) |
| angioedema, hereditary | A genetic form of angioedema. (Angioedema is also referred to as Quinke's disease.) Persons with it are born lacking an inhibitor protein (called C1 esterase inhibitor) that normally prevents activation of a cascade of proteins leading to the swelling of angioedema. Patients can develop recurrent attacks of swollen tissues, pain in the abdomen, and swelling of the voice box (larynx) which can compromise breathing. The diagnosis is suspected with a history of recurrent angioedema. It is confirmed by finding abnormally low levels of C1 esterase inhibitor in the blood. Treatment options include antihistamines and male steroids (androgens) that can also prevent the recurrent attacks. Also called hereditary angioneurotic oedema. (12 Dec 1998) |
| angioneurotic oedema, hereditary | A genetic form of angioedema. (Angioedema is also referred to as Quinke's disease.) Persons with it are born lacking an inhibitor protein (called C1 esterase inhibitor) that normally prevents activation of a cascade of proteins leading to the swelling of angioedema. Patients can develop recurrent attacks of swollen tissues, pain in the abdomen, and swelling of the voice box (larynx) which can compromise breathing. The diagnosis is suspected with a history of recurrent angioedema. It is confirmed by finding abnormally low levels of C1 esterase inhibitor in the blood. Treatment options include antihistamines and male steroids (androgens) that can also prevent the recurrent attacks. Also called hereditary angioedema. (12 Dec 1998) |
| canine hereditary blindness | An autosomal dominant condition seen in dogs of the collie and several other breeds. (05 Mar 2000) |
| colourectal neoplasms, hereditary nonpolyposis | A syndrome characterised by autosomal dominant inheritance, a low mean age (41 years) for occurrence of colon cancer, and a marked increase in the proportion of tumours in the proximal colon. (12 Dec 1998) |
| corneal dystrophies, hereditary | Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect. (12 Dec 1998) |
| hereditary | <genetics> Transferred via genes from parent to child. (16 Dec 1997) |
| hereditary amyloidosis | <neurology> A disorder in which various peripheral nerves are infiltrated with amyloid and their functions disturbed, an abnormal prealbumin is also formed and is present in the blood; characteristically, it begins during mid-life and is found largely in persons of Portuguese descent. Other rare clinical types occur. Inheritance: autosomal dominant. Synonym: familial amyloidosis, hereditary amyloidosis. (05 Mar 2000) |
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