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"Leber hereditary optic atrophy"¿¡ ´ëÇÑ °Ë»ö °á°úÀÔ´Ï´Ù. °Ë»ö °á°ú º¸´Â µµÁß¿¡ Tab ۸¦ ´©¸£½Ã¸é °Ë»ö âÀÌ ¼±Åõ˴ϴÙ.
¾Ë±â½¬¿î ÀÇÇпë¾îÇ®ÀÌÁý, ¼­¿ïÀÇ´ë ±³¼ö ÁöÁ¦±Ù, °í·ÁÀÇÇÐ ÃâÆÇ À¯»ç °Ë»ö °á°ú : 3 ÆäÀÌÁö: 1
¿µ¹® atrophy ÇÑ±Û À§Ãà(Áõ)
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  Á¶Á÷À̳ª ¼¼Æ÷ È¤Àº ±â°üÀÇ Å©±â°¡ ¿ø·¡ÀÇ Å©±â¿¡ ºñÇÏ¿© ÁÙ¾îµå´Â °ÍÀ» ÀÏÄ´ ¸». Ã³À½ºÎÅÍ Å©±â°¡ ÀÛÀº ¹«Çü¼º/Çü¼ºÀúÇÏÁõ(aplasia/hypoplasia)¿Í ±¸º°µÈ´Ù.
¿µ¹® optic nerve ÇÑ±Û ½Ã°¢½Å°æ
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  ½Ã°¢À» ÀÎÁöÇϴ ½Å°æ. ÀÌ ½Å°æÀº ´ÜÁö °¨°¢½Å°æÀ¸·Î¼­¸¸ ÀÛ¿ëÇÑ´Ù. µû¶ó¼­ ¾î¶² »ç¹°À» µû¶ó ´«À» ¿òÁ÷ÀÏ ¼ö Àִ °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°èÀΠ³ú¿¡¼­ Á÷Á¢ ºÐÁöÇϹǷΠ¼Õ»ó½Ã Àç»ýÀº ºÒ°¡´ÉÇϸç, ÀÌ¿¡ ´ëÇÑ Ä¡·á¹ýÀº ¾ø´Ù.
¿µ¹® optic disk ÇÑ±Û ½Ã½Å°æÀ¯µÎ
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  ¸Á¸·ÀÇ ±¸Á¶¸¦ Á÷»ó°Ë¾È°æ(¸Á¸·À» º¸±â À§ÇØ °í¾ÈµÈ °Ë»ç±â±¸)À¸·Î º¸¸é ´ÙÀ½°ú °°´Ù.
  
  ¸Á¸·¿¡ Ç÷¾×À» °ø±ÞÇϴ ¸Á¸·µ¿¸Æ(retinal artery)°ú, ´Ù½Ã Ç÷¾×À» È¸¼öÇϴ ¸Á¸·Á¤¸Æ(retinal vein)Àº ´Ù°°ÀÌ ½Ã°¢½Å°æ(optic nerve)°ú ÇÔ²² ½Ã°¢½Å°æ±¸¸Û(optic foramen)À» ÅëÇØ ¸Á¸·±îÁö À̸£°Ô µÈ´Ù. Áï, À̵頸Á¸· µ¿, Á¤¸ÆÀº ½Ã°¢½Å°æ¼Ó¿¡ ³¢¿öÁø Ã¤ ¸Á¸·±îÁö À̸£°Ô µÈ´Ù. µû¶ó¼­ À̵頸Á¸· µ¿, Á¤¸Æ ÁÖÀ§¿¡ Á¸ÀçÇϴ ½Ã°¢½Å°æÀ¯µÎ´Â ¹Ù·Î ½Ã°¢½Å°æÀÇ ÀϺκÐÀ» ¸»ÇÑ´Ù. ºûÀÇ ÀÚ±ØÀ» ÀÌÇØÇÒ ¼ö Àִ ½Åȣü°è·Î ¹Ù²Ù´Â ½Ã°¢¼¼Æ÷´Â ¹Þ¾ÆµéÀΠÀÚ±ØÀ» ½Ã°¢½Å°æ¿¡¼­ ºÐÁöÇÑ ¼ö¸¹Àº ½Å°æÀý¼¼Æ÷(ganglion cell: ½Å°æÀü´ÞÀ» ¸ð¾Æ¼­ º¸´Ù Å« Àü´Þ´ÜÀ§·Î ÀüÇØÁִ ¿ªÇÒÀ» Çϸç, ¸Á¸·³»¿¡ À§Ä¡ÇÑ´Ù)·Î Àü´ÞÇϰԠµÇ°í, À̵頽ŰæÀý¼¼Æ÷´Â ´Ù½Ã ÀÌ·± ÀڱصéÀ» ¸ð¾Æ ½Ã°¢½Å°æÀ¯µÎ·Î º¸³»°Ô µÇ¸ç, ½Ã°¢½Å°æÀ¯µÎ¿¡¼­ºÎÅÍ ½Å°æÀü´ÞÀº ³ú±îÁö ÁøÇàÇÑ´Ù.
  
  ½Ã½Å°æÀ¯µÎ
´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • optic atrophy
    ½Ã(°¢)½Å°æÀ§Ãà
  • optic nerve atrophy
    ½Ã(°¢)½Å°æÀ§Ãà
  • congenital hereditary hearing loss
    ¼±ÃµÀ¯Àü³­Ã»
  • hereditary
    À¯Àü-
  • hereditary ataxia
    À¯Àü½ÇÁ¶
  • hereditary benign intraepithelial dyskeratosis
    À¯Àü¾ç¼º»óÇdz»ÀÌ»ó°¢È­Áõ
  • hereditary cerebellar ataxia
    À¯Àü¼Ò³ú½ÇÁ¶
  • hereditary chorea
    À¯Àü¹«µµº´
  • hereditary coagulation disorder
    À¯ÀüÀÀ°íÀå¾Ö
  • hereditary coproporphyria
    À¯ÀüÄÚÇÁ·ÎÆ÷¸£ÇǸ°Áõ
  • hereditary disease
    À¯Àüº´
  • hereditary disorder
    À¯ÀüÀå¾Ö, À¯ÀüÁúȯ
  • hereditary epilepsy
    À¯Àü°£Áú
  • hereditary hearing impairment
    À¯Àüû·ÂÀå¾Ö
  • hereditary hemorrhagic telangiectasia
    À¯Àü¼ºÃâÇ÷¸ð¼¼Ç÷°üÈ®ÀåÁõ
´ëÇÑÀÇÇù Çʼö ÀÇÇпë¾îÁý »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • optic atrophy
    ½Ã°¢½Å°æÀ§Ãà
  • optic nerve atrophy
    (¢¡optic atrophy) ½Ã°¢½Å°æÀ§Ãà
  • hereditary
    À¯Àü-
  • hereditary motor sensory neuropathy
    À¯Àü¿îµ¿°¨°¢½Å°æº´Áõ
  • hereditary spherocytosis
    À¯ÀüµÕ±ÙÀûÇ÷±¸Áõ, À¯Àü±¸ÇüÀûÇ÷±¸Áõ
  • atrophy
    ˤ̈
  • choroidal atrophy
    ¸Æ¶ô¸·À§Ãà, ¾ôÈû¸·À§Ãà
  • spinal muscular atrophy
    ô¼ö±ÙÀ°À§Ãà(Áõ)
  • thenar atrophy
    ¾öÁöµÎµ¢À§Ãà
  • optic chiasm
    ½Ã°¢±³Â÷
  • optic disc cupping
    ½Ã°¢½Å°æÀ¯µÎÆÐÀÓ, ½Ã°¢½Å°æÀ¯µÎÇÔ¸ô
  • optic disc
    ½Ã°¢½Å°æÀ¯µÎ
  • ischemic optic neuropathy
    ÇãÇ÷½Ã°¢½Å°æº´Áõ
  • optic neuritis
    ½Ã°¢½Å°æ¿°
  • optic nerve
    ½Ã°¢½Å°æ
¿¾ ´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • optic atrophy
    ½Ã°¢½Å°æÀ§Ãà
  • hereditary ataxia
    À¯ÀüÁ¶È­¿îµ¿ºÒ´É
  • congenital hereditary hearing loss
    ¼±ÃµÀ¯Àü³­Ã»
  • hereditary chorea
    À¯Àü¹«µµº´
  • hereditary coproporphyria
    À¯ÀüÄÚÇÁ·ÎÆ÷¸£ÇǸ°Áõ
  • hereditary methemoglobinemic cyanosis
    À¯Àü¸ÞÆ®Çì¸ð±Û·ÎºóÇ÷û»öÁõ
  • hereditary disease
    À¯Àüº´
  • hereditary disorder
    À¯ÀüÀå¾Ö, À¯ÀüÁúȯ
  • hereditary benign intraepithelial dyskeratosis
    À¯Àü¾ç¼º»óÇdz»ÀÌ»ó°¢È­Áõ
  • hereditary coagulation disorder
    À¯ÀüÀÀ°íÀå¾Ö
  • hereditary opalescent dentine
    À¯ÀüÀ¯¹é»ö»ó¾ÆÁú
  • recessive hereditary disease
    ¿­¼ºÀ¯Àüº´
  • hereditary epilepsy
    À¯Àü°£Áú
  • hereditary bullous epidermolysis
    À¯Àü¹°ÁýÇ¥Çǹڸ®Áõ
  • hereditary multiple exostosis
    À¯Àü´Ù¹ß»Àµ¹ÃâÁõ
¿¾ ´ëÇÑÀÇÇù 2 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • hereditary optic atrophy
    À¯Àü¼º½Ã½Å°æÀ§Ãà.
  • hereditary optic atrophy
    À¯Àü¼º ½Ã½Å°æÀ§Ãà.
  • glaucomatous optic nerve atrophy
    ³ì³»Àå½Ã½Å°æÀ§Ãà.
  • gray optic atrophy
    ȸ»ö½Ã½Å°æÀ§Ãà
  • postinflammatory optic atrophy
    ¿°ÁõÈĽýŰæÀ§Ãà
  • postneuritic optic atrophy
    ¿°ÁõÈĽýŰæÀ§Ãà
  • primary optic atrophy
    ¿ø¹ß½Ã½Å°æÀ§Ãà(ê«Û¡ãÊãêÌèê×õê).
  • primary optic atrophy
    ¿ø¹ß(¼º) ½Ã½Å°æÀ§Ãà(ê«Û¡(àõ) ãÊãêÌèê×õê)
  • Devics disease=>optic neuromyelitis
    µ¥ºòº´
  • anterior ischemic optic neuropathy
    Àü¹æÇãÇ÷¼º ½Ã½Å°æº´Áõ(îñÛ°úÈúìàõãÊãêÌèÜ»ñø).
  • anterior ischemic optic neuropathy
    ¾ÕÇãÇ÷½Ã½Å°æº´Áõ
  • geminal body =optic lobe
    ÀÌ´ëü(ì£Óßô÷).
  • glioma of optic nerve
    ½Ã½Å°æ±³Á¾
  • glioma of optic nerve and chiasm
    ½Ã½Å°æ±³Â÷ ±³¼¼Æ÷Á¾.
  • posterior ischemic optic neuropathy
    ÈÄÇãÇ÷½Ã½Å°æº´Áõ
¿¾ ´ëÇÑÀÇÇù 3 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • hereditary optic atrophy
    À¯Àü¼º ½Ã½Å°æÀ§Ãà.
  • hereditary optic atrophy
    À¯Àü¼º½Ã½Å°æÀ§Ãà.
  • lebers hereditary optic neuropathy
    ·¹¹ö¾¾¼±Ãµ¼º½Ã½Å°æº´Áõ(¡­à»ô¸àõãÊãêÌèÜ»ñø)
  • cavernous optic atrophy
    ÇØ¸é½Ã½Å°æÀ§Ãà
  • circulatory optic atrophy
    ÇãÇ÷½Ã½Å°æÀ§Ãà
  • congenital optic atrophy
    ¼±Ãµ½Ã½Å°æÀ§Ãà
  • electric optic atrophy
    Àü±â½Ã½Å°æÀ§Ãà
  • glaucomatous optic nerve atrophy
    ³ì³»Àå½Ã½Å°æÀ§Ãà.
  • gray optic atrophy
    ȸ»ö½Ã½Å°æÀ§Ãà
  • ischemic optic atrophy
    ÇãÇ÷½Ã½Å°æÀ§Ãà
  • lacunar optic atrophy
    ÇØ¸é½Ã½Å°æÀ§Ãà
  • nutritional optic atrophy
    ¿µ¾ç½Ã½Å°æÀ§Ãà
  • optic atrophy
    ½Ã½Å°æÀ§Ãà(ãÊãêÌèê×õê).
  • optic nerve atrophy
    ½Ã½Å°æÀ§Ãà(¡­ê×õê).
  • postinflammatory optic atrophy
    ¿°ÁõÈĽýŰæÀ§Ãà
´ëÇÑÇØºÎÇÐȸ ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • Optic nerve disk [Optic papilla]
    ½Ã°¢½Å°æ¿ø¹Ý
    [¿¾ ¿ë¾î] ½Ã½Å°æ¿øÆÇ
  • Optic cavity
    ´«¼ÒÆ÷°ø°£
    [¿¾ ¿ë¾î] ¾È°­
  • Optic stalk
    ´«¼ÒÆ÷ÁÙ±â
    [¿¾ ¿ë¾î] ¾È°æ
  • Cavity of optic cup
    ´«¼úÀܰø°£
    [¿¾ ¿ë¾î] ¾È¹è°­
  • External plate of optic cup
    ´«¼úÀܹٱùÆÇ
    [¿¾ ¿ë¾î] ¾È¹è¿ÜÆÇ
  • Internal plate of optic cup
    ´«¼úÀܼӯÇ
    [¿¾ ¿ë¾î] ¾È¹è³»ÆÇ
  • Optic fovea
    ´«¿À¸ñ
    [¿¾ ¿ë¾î] ¾È¿Í
  • Optic mesenchyme
    ´«Áß°£¿±
    [¿¾ ¿ë¾î] ¾È°£¿±
  • Optic part of retina
    ¸Á¸·½Ã°¢ºÎºÐ
    [¿¾ ¿ë¾î] ¸Á¸·½ÃºÎ
  • Optic chiasm
    ½Ã°¢±³Â÷
    [¿¾ ¿ë¾î] ½Ã½Å°æ±³Â÷
  • Optic tract
    ½Ã°¢·Î
    [¿¾ ¿ë¾î] ½Ã»è
  • Optic tract branches
    ½Ã°¢·Î°¡Áö
    [¿¾ ¿ë¾î] ½Ã»èÁö
  • Optic radiation
    ½Ã°¢·ÎºÎê»ì
    [¿¾ ¿ë¾î] ½Ã¹æ»ç
  • Optic canal
    ½Ã°¢½Å°æ°ü
    [¿¾ ¿ë¾î] ½Ã½Å°æ°ü
  • Vascular ring of optic nerve
    ½Ã°¢½Å°æÇ÷°ü°í¸®
    [¿¾ ¿ë¾î] ½Ã½Å°æÇ÷°ü·û
´ëÇÑ»ýÈ­ÇкÐÀÚ»ý¹°ÇÐȸ ¿ë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 3 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • atrophy
    À§Ãà (ê×õê)
  • hereditary code
    À¯Àü ºÎÈ£(ë¶îîݬûÜ)
  • hereditary material
    À¯Àü ¹°Áú(ë¶îîÚªòõ)
KI ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • optic atrophy
    ½Ã½Å°æÀ§Ãà
  • optic nerve atrophy
    ½Ã½Å°æÀ§Ãà
  • hereditary
    À¯Àü¼ºÀÇ
  • hereditary craniofacial dysostosis
    À¯Àü¼ºµÎ°³¾È¸éÀ̰ñÁõ
  • hereditary disease
    À¯Àüº´
  • hereditary ectodermal polydysplasia
    À¯Àü¼º¿Ü¹è¿±¼º´Ù¹ßÀÌÇü¼ºÁõ
  • hereditary hemorrhagic telangiectasia
    À¯Àü¼ºÃâÇ÷¼º¸ð¼¼Ç÷°üÈ®Àå
  • atrophy
    À§ÃàÁõ, ¹«¿µ¾çÁõ
  • denervation atrophy
    Å»½Å°æÀ§Ãà
  • muscle atrophy
    ±ÙÀ§Ãà
  • muscular atrophy
    ±ÙÀ§Ãà
  • neurogenic muscular atrophy
    ½Å°æ¼º±ÙÀ§Ãà(Áõ)
  • senile atrophy
    ³ë³â(³ëÀÎ)¼ºÀ§Ãà
  • thenar atrophy
    ¹«Áö±¸À§Ãà
  • optic
    ´«ÀÇ, ½Ã°¢ÀÇ, °úÇÐÀÇ
KMLE ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 1
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
KMLE ÀÚµ¿ÃßÃâ ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 1
LHON Leber hereditary optic neuropathy
LHON Leber hereditary optic neuroretinopathy
HCSMA Hereditary Canine Spinal Muscular Atrophy
LCA Leber Congenital Amaurosis
CA Cerebellar atrophy
°æºÏ´ë Ä¡°ú´ëÇÐ ±¸°­³»°ú ±³½Ç »çÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
    ¼³¸í
  • lebers hereditary optic neuropathy
    ·¹¹ö¾¾ ¼±Ãµ¼º ½Ã½Å°æº´Áõ
  • lacunar optic atrophy
    ÇØ¸é ½Ã½Å°æ À§Ãà
  • optic nerve atrophy
    ½Ã½Å°æ À§Ãà
  • postinflammatory optic atrophy
    ¿°ÁõÈÄ ½Ã½Å°æ À§Ãà
  • hereditary
    À¯Àü¼º
    ºÎ¸ð·ÎºÎÅÍ ´ÙÀ½ ¼¼´ë·Î À¯ÀüÀÚ¿¡ ÀÇÇØ Àü´ÞµÇ´Â.
  • hereditary amyloidosis
    À¯Àü¼º À¯ÀüºÐÁõ
    1. À¯Àü¿¡ ÀÇÇØ ¿ø¼¶À¯¼º ´ç ´Ü¹éÀÌ ÇǺÎ, Á¡¸·, ³»ºÎ Àå±â¿¡ ħÀüµÇ´Â º´. 2. À¯ÀüÀûÀ¸·Î ½ÅüÀÇ °¢Á¾ ºÎÀ§¿¡ ¾Æ¹Ð·ÎÀ̵å
  • hereditary angioedema
    À¯Àü¼º ¸Æ°ü ºÎÁ¾, À¯Àü¼º Ç÷°ü ºÎÁ¾
    ½ÉºÎÀÇ ÁøÇÇ, ÇÇÇÏ Á¶Á÷, Á¡¸·ÇÏÁ¶Á÷À» ħ½ÀÇÏ´Â Ç÷°ü ¹ÝÀÀÀ¸·Î¼­, ¸ð¼¼Ç÷°üÀÇ È®Àå°ú Åõ°ú¼º Ç×Áø¿¡ ÀÇÇØ ÀϾ´Â ±¹ÇѼº ºÎÁ¾À» ³ªÅ¸³»¸ç °Å´ëÇÑ ÆØÁøÀÇ ¹ß»ýÀ» Ư¡À¸·Î ÇÑ´Ù. »ó¿°»öü¼º ¿ì¼º ÇüÁú·Î À¯ÀüÇÑ´Ù. »ê¹ß¼ºº¸´Ù ³»Àå º´º¯À» ´õ Àß ÀÏÀ¸Å°´Â °æÇâÀÌ ÀÖ´Ù.
  • hereditary aphasia
    À¯Àü ½Ç¾î, À¯Àü¼º ½Ç¾î, À¯Àü ½Ç¾îÁõ, À¯Àü¼º ½Ç¾îÁõ
  • hereditary brown tooth
    À¯Àü¼º °¥»ö Ä¡¾Æ
  • hereditary cerebrospinal paralysis
    ¿ìÀü¼º ³úô¼ö ¸¶ºñ
    º¸Åë Áß³â Ãʱ⿡ ÁøÇàÇÏ´Â À¯Àü¼º ÁúȯÀ¸·Î »óÁö ¶Ç´Â ÇÏÁöÀÇ ¾çÁö ¶Ç´Â ÀÏÃøÀ̳ª »çÁö¿¡ ³ªÅ¸³ª¸ç, ¼­¼­È÷ ÁøÇàµÇ´Â ¸¶ºñ°¡ Ư¡ÀÌ´Ù.
  • hereditary craniofacial dysostosis
    À¯Àü¼º µÎ°³ ¾È¸é À̰ñÁõ
    ž»ó µÎ°³, ¾È±¸ µ¹Ãâ, ¾ç¾È °Ý¸®, »ç½Ã, ¾Þ¹«»õ ºÎ¸® ¸ð¾ç1114-377786/377786Àüµ¹À» ¼ö¹ÝÇÏ´Â »ó¾Ç Çü¼º ºÎÀüÀ» Ư¡À¸·Î ÇÏ´Â À¯ÀüÀû Áúȯ.
  • hereditary disease
    À¯Àüº´
    À¯ÀüÀÚ¿¡ ÀÇÇÏ¿© ÀϾ´Â ½ÅüÀû, Á¤½ÅÀûÀÎ ÀÌ»óÀÇ ÃÑĪ. À¯Àü¼º ÁúȯÀ̶ó°íµµ ÇÑ´Ù. º´, ÀÌ»ó ÇüÁúÀÌ À¯ÀüÀû ¿äÀΰú °ü·ÃÀÌ ÀÖÀ½¿¡ µû¶ó¼­ ¹Ýµå½Ã À¯ÀüÀÚ¿¡ ÀÇÇÏÁö ¾Ê´Â À¯ÀüÀûÀÎ º´µµ À¯Àüº´À̶ó°í ÇÏ°Ô µÇ¾ú´Ù. 1°³ÀÇ ¿ì¼º À¯ÀüÀÚ¿¡ ÀÇÇÏ¿© ÀϾ´Â ÇåÆÃÅÏ ¹«µµº´, ¹ß·»ºÎ¸£Å© ÁõÈıº, ¿­¼º À¯ÀüÀÚÀÇ µ¿Çü Á¢ÇÕ¿¡ ÀÇÇÏ¿© ³ªÅ¸³ª´Â ¹éÀÚ, Æä´ÒÄÉÅæ´¢Áõ, X ¿°»öü À§ÀÇ ¹Ý¼º À¯ÀüÀÚ¿¡ ÀÇÇÑ Àû·Ï »ö¸Í, Ç÷¿ìº´, ÁøÇ༺ ±Ù µð½ºÆ®·ÎÇÇÁõ µîÀº ¸í¹éÈ÷ ÀÌÀ¯ ÀüÀÚ¿¡ ÀÇÇÑ °ÍÀ¸·Î¼­, À¯Àüº´ÀÇ ´ëÇ¥ÀûÀÎ °ÍÀ̶ó°í ÇÒ ¼ö ÀÖ´Ù. ¹Ý¼º À¯ÀüÀÚ´Â X ¿°»öü À§¿¡ À§Ä¡ÇÏ´Â °Í¸¸ ¾Ë·ÁÁ® ÀÖ°í, ³²¼ºÀ» °áÁ¤ÇÏ´Â Y ¿°»öü À§¿¡´Â ÇöÀç±îÁö ƯÈ÷ È®½ÇÇÑ ÇüÁúÀ» °áÁ¤ÇÏ´Â À¯ÀüÀÚ´Â Á¸ÀçÇÏÁö ¾Ê´Â´Ù°í º¸°í ÀÖ´Ù. À¯ÀüÀÚ¿¡ ÀÇÇÑ ÀÌ»óÀ̳ª º´Àº Ãâ»ýÇÏ´Â ¾Æ±âÀÇ 1 %°¡ ÀÌ¹Ì °¡Áö°í Àְųª ¹ßº´ÇÒ °¡´É¼ºÀ» Áö´Ï°í ÀÖ´Ù. ¿°»öüÀÇ ±¸Á¶ ¶Ç´Â ±¸¼ºÀÇ ÀÌ»ó¿¡ ÀÇÇÏ¿© ÀϾ´Â ¿©·¯ °¡Áö ÀÌ»ó ´Ù¿î ÁõÈıº, ÅÍ³Ê ÁõÈıº, Ŭ¶óÀÎÆçÅÍ ÁõÈıº µîµµ ¿°»öü À§¿¡ À¯ÀüÀÚ°¡ ÀÖ´Ù°í ÇÏ´Â Àǹ̿¡¼­´Â À¯ÀüÇÐÀûÀÎ °ÍÀ̶ó°í ÇÒ ¼ö ÀÖ´Ù. ±×·¯³ª ´ë°³´Â ÀÌ»ó °³Ã¼¸¦ ¸¸µç ¹è¿ìÀÚ
  • hereditary disturbance
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  • hereditary ectodermal dysplasia
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  • hereditary enamel hypoplasia
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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)
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