Leber's congenital amaurosis
From Wikipedia, the free encyclopedia
| ICD-10 | H53.0 |
|---|---|
| ICD-9 | 362.76 |
Leber's congenital amaurosis is a rare inherited eye disease that appears at birth or in the first few months of life, typically characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. It is an autosomal recessive disorder thought to be caused by abnormal development of photoreceptors.
Leber's congenital amaurosis is sometimes confused with Leber's hereditary optic neuropathy, which is a different disease also first described by Theodore Leber in the 19th century.
Project 3000, a foundation started by Chicago Cubs first baseman Derrek Lee and Boston Celtics owner Wyc Grousbeck, works to have the approximately 3,000 people in the United States with the disease genetically tested.
[edit] See also
[edit] External links
- Foundation for Retinal Research
- Lee vows to fight daughter's rare disease
- BBC News report: Inherited child blindness probed, downloaded September 19, 2005
- Leber's Congenital Amaurosis FAQ from WonderBaby.org
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eyelid, lacrimal system and orbit: Stye - Chalazion - Blepharitis - Entropion - Ectropion - Lagophthalmos - Blepharochalasis - Ptosis - Xanthelasma
conjunctiva: Conjunctivitis - Pterygium - Subconjunctival hemorrhage
sclera, cornea, iris and ciliary body: Scleritis - Keratitis - Corneal ulcer - Snow blindness - Thygeson's superficial punctate keratopathy - Fuchs' dystrophy - Keratoconus - Keratoconjunctivitis sicca - Iritis - Uveitis
lens: Cataract
choroid and retina: Retinal detachment - Retinoschisis - Hypertensive retinopathy - Diabetic retinopathy - Retinopathy - Retinopathy of prematurity - Macular degeneration - Retinitis pigmentosa - Macular edema
ocular muscles, binocular movement, accommodation and refraction: Strabismus - Ophthalmoparesis - Progressive external ophthalmoplegia - Esotropia - Exotropia - Refractive error - Hyperopia - Myopia - Astigmatism - Anisometropia - Presbyopia
Visual disturbances and blindness: Amblyopia - Leber's congenital amaurosis - Scotoma - Color blindness - Achromatopsia - Nyctalopia - Blindness
Commonly associated infectious diseases: Trachoma Onchocerciasis
Other: Glaucoma - Floater - Leber's hereditary optic neuropathy - Red eye - Argyll Robertson pupil - Keratomycosis - Xerophthalmia - Aniridia
