| AF | abnormal frequency; acid-fast; adult female; afebrile; aflatoxin; albumin-free; albumose-free; aldeh... |
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| LCB | Laboratory of Cancer Biology; Leber congenital blindness; left costal border; lymphomatosis cutis be... |
| LHON | Leber hereditary optic neuropathy |
| LOA | leave of absence; Leber optic atrophy; left occipitoanterior [fetal position] |
| ACC | accommodation; acetyl coenzyme A carboxylase; acinic cell carcinoma; acute care center; adenoid cyst... |
| LCA | Leber Congenital Amaurosis |
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| AF | Amaurosis fugax |
| LHON | Leber hereditary optic neuropathy |
| LHON | Leber hereditary optic neuroretinopathy |
| AHC | Adrenal hypoplasia congenita |
| amaurosis congenita of Leber | An autosomal recessive cone-rod abiotrophy causing blindness or severely reduced vision at birth. (05 Mar 2000) |
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| amaurosis | <ophthalmology> Blindness, often occurs from a cortical lesion or from no change in the eye itself (27 Sep 1997) |
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| amaurosis fugax | <symptom> This refers to a symptom that is described as a shade coming down over the eye. This temporary interference in vision is causally related to atherosclerosis in the blood vessels that supply the brain. (27 Sep 1997) |
| pressure amaurosis | A loss of vision occurring a few seconds after intraocular pressure exceeds systolic pressure of retinal arteries. (05 Mar 2000) |
| toxic amaurosis | Blindness due to optic neuritis caused by methyl alcohol, lead, arsenic, quinine, or other poisons. (05 Mar 2000) |
| 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) |
| 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) |
| amyoplasia congenita | Limitation of range of joint motion and contractures present at birth, usually involving multiple joints; a syndrome probably of diverse aetiology that may result from changes in spinal cord, muscle, or connective tissue. Several forms exist, autosomal dominant, recessive, and X-linked. Synonym: amyoplasia congenita. (05 Mar 2000) |
| amyotonia congenita | Atonic pseudoparalysis of congenital origin (neither familial nor hereditary), observed especially in infants and characterised by absences of muscular tone only in muscles innervated by the spinal nerves. Synonym: congenital atonic pseudoparalysis, myatonia congenita, Oppenheim's disease, Oppenheim's syndrome. An indefinite term for a number of congenital neuromuscular disorders that cause generalised myotonia in young children, and that have a benign course (static or regressive). (05 Mar 2000) |
| aplasia cutis congenita | Congenital absence or deficiency of a localised area of skin, with the base of the defect covered by a thin translucent membrane; most often a single area near the vertex of the scalp, but may occur in other areas; underlying structures may also be affected; autosomal inheritance, either dominant or recessive. (05 Mar 2000) |
| arthrogryposis multiplex congenita | Limitation of range of joint motion and contractures present at birth, usually involving multiple joints; a syndrome probably of diverse aetiology that may result from changes in spinal cord, muscle, or connective tissue. Several forms exist, autosomal dominant, recessive, and X-linked. Synonym: amyoplasia congenita. (05 Mar 2000) |
| pachyonychia congenita | A syndrome of ectodermal dysplasia of abnormal thickness and elevation of nail plates with palmar and plantar hyperkeratosis; the tongue is whitish and glazed owing to papillary atrophy; autosomal dominant inheritance. Synonym: Jadassohn-Lewandowski syndrome. (05 Mar 2000) |
| chondrodystrophia calcificans congenita | A developmental error of the epiphyses characterised by severe deformities, epiphyses ossified from several discrete centres and with a stippled appearance, and thickened shafts of the long bones; congenital cataract and mental retardation are often present. There is an autosomal dominant form and an autosomal recessive form. Synonym: chondrodysplasia punctata, chondrodystrophia calcificans congenita, hypoplastic foetal chondrodystrophy, stippled epiphysis. (05 Mar 2000) |
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