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Inherited degenerative disease of the retina characterized by severely decreased vision manifesting at birth or shortly thereafter. Other ocular anomalies may include sensory (wandering) nystagmus, amaurotic pupils, deep-set eyes, and photophobia. Central nervous system anomalies have been described in some patients. Do not confuse with Leber hereditary optic neuropathy (see Leber Hereditary Optic Neuropathy).

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First described by the German ophthalmologist Theodor von Leber in 1869.

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Approximately 3:100,000 neonates are born with this autosomal recessive transmitted disorder. Nine genetic loci for LCA have been discovered, of which six genes have identified. LCA is now no longer considered one disorder but rather multiple disorders, which can be classified into three different categories: (1) aplasia, resulting in abnormal embryologic formation of photoreceptors; (2) early degeneration of photoreceptors with progressive cell death; and (3) dysfunction of the photoreceptors with normal retinal anatomy.

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Vision is already significantly reduced at birth or shortly thereafter. Sensory (wandering) nystagmus and lack of visual responsiveness alert the parents, usually within the first months of life. Initial examination may reveal a normal retina and a fundus appearance that either is essentially normal or reveals a progressive pigmentary retinopathy. The pupils are amaurotic and the eyes deep sunken. However, the final diagnosis is made by electroretinography, which shows only small (at high intensities) or no photopic responses. Both cone and rod responses are affected. Patients are described as frequently poking and rubbing their eyes (the so-called “Oculodigital Reflex” of Leber and Franceschetti), which is not specific to LCA because it is observed in other forms of amaurosis (Leber was the first to describe this phenomenon). Other associated ocular features may include ptosis, strabismus, keratoconus/keratoglobus, cataracts, microphthalmos, macular coloboma, pigmentary retinopathy and maculopathy, optic disc edema, retinal vascular changes, and high-grade hyperopia or myopia (less common). By early adolescence, the retina of LCA patients may undergo significant changes. Retinal blood vessels often become narrow and constricted, and pigmentary changes similar to those found in retinitis pigmentosa may affect the retinal pigment epithelium. Despite these changes, vision does not usually deteriorate further. Visual acuity in LCA patients is most often limited to the level of finger counting or detection of bright light. Some patients are extremely photophobic. At this time, no treatment is available; however, current research is focusing on gene therapy. On rare occasion, LCA is associated with central nervous system symptoms such as delayed psychomotor development and seizures.

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In patients with isolated LCA (i.e., not associated with a syndrome or central nervous system findings), no specific anesthetic concerns should arise from this disorder. In the presence of seizures, keep in mind that antiseizure medications can alter the metabolism and elimination of anesthetic drugs. Cooperation of mentally delayed patients may be limited. Sedative and/or hypnotic premedication and the presence of the primary caregiver may be helpful during induction of anesthesia. Dealing with a blind patient who cannot see what is happening requires more explicit explanations in ...

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