Leber tapetoretinal dystrophy syndrome (amaurosis congenita; retinal aplasia; retinal abiotrophy; pigmentary retinitis with congenital amaurosis; dysgenesis neuroepithelialis retinae; alstrom-olsen syndrome)

General: Autosomal recessive inheritance; consanguinity; occurs from teens to 30 years of age.

Ocular: Nystagmus; keratoconus; narrow retinal arteries; yellowish-brown or gray macular lesions; grayish atrophic retinal lesions; salt-and-pepper-like retinal pigmentation or typical 'bone corpuscle' pigmentary changes; keratoglobus.

Clinical: Mental retardation; microcephaly; mongoloid appearance; oculodigital sign; association with Down syndrome has been reported; hypoplasia of the cerebellar vermis; mild-to-moderate ventriculomegaly.

Elder MJ. Leber congenital amaurosis and its association with keratoconus and keratoglobus. J Pediatr Ophthalmol Strabismus 1994; 31:38-40.

Firat T. Clinical and genetic investigations in Leber's tapeto-retinal dystrophy. Ann Ophthalmol 1970; 2:664.

Hayasaka S, et al. Leber congenital amaurosis in an infant with Down syndrome. Ann Ophthalmol 1992; 24:250-252.

Lambert SR, et al. Concordance and recessive inheritance of Leber congenital amaurosis. Am J Med Genet 1993; 4: 275-277.

Leber T. Uber Retinitis Pigmentosa und Angeborene Amaurose. Arch F Ophthalmol (Berlin) 1869; 15:1.

Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.

Pau H. Differential diagnosis of eye diseases. New York: Thieme, 1987.

Steinberg A, et al. Central nervous involvement in Leber congenital amaurosis. J Pediatr Ophthalmol Strabismus 1992; 29:224-227.