Elsevier

Survey of Ophthalmology

Volume 34, Issue 3, November–December 1989, Pages 173-186
Survey of Ophthalmology

Major review
The infant with nystagmus, normal appearing fundi, but an abnormal ERG

https://doi.org/10.1016/0039-6257(89)90101-XGet rights and content

Abstract

Many retinal disorders present during infancy with nystagmus, decreased vision, and normal-appearing fundi, but an abnormal ERG. The most common of these disorders are Leber's congenital amaurosis, achromatopsia, and congenital stationary night-blindness. Other disorders with similar ocular manifestations may be associated with a variety of life-threatening systemic abnormalities. This review describes the clinical, electrophysiological, and laboratory findings that can be used to distinguish among these conditions.

References (130)

  • H.J. Manz et al.

    New phenotype variant of adrenoleukodystrophy. Pathologic, ultrastructural, and biochemical study in two brothers

    J Neurol Sci

    (1980)
  • S Margolis et al.

    Macular colobomas in Leber's congenital amaurosis

    Am J Ophthalmol

    (1977)
  • S. Merin et al.

    Syndrome of congenital high myopia with nyctalopia

    Am J Ophthalmol

    (1970)
  • Y Miyake et al.

    Reduced amplitude of oscillatory potentials in female carriers of X-linked recessive congenital stationary night blindness

    Am J Ophthalmol

    (1984)
  • S Naidu et al.

    Phenotypic and genotypic variability of generalized peroxisomal disorders

    Pediatr Neurol

    (1988)
  • B.C.P. Polak et al.

    Tapetoretinal degeneration associated with recessively inherited medullary cystic disease

    Am J Ophthalmol

    (1977)
  • J Aicardi et al.

    Le syndrome de Joubert. A propos de cinq observations

    Arch Fr Pediatr

    (1983)
  • D.M. Alcorn et al.

    High myopia in Leber's congenital amaurosis

    Invest Ophthalmol Vis Sci

    (1988)
  • C.H. Alström et al.

    Heredo-retinopathia congenitalis. Monohybrida recessiva autosomalis

    Hereditas

    (1957)
  • C.H. Alström et al.

    Retinal degeneration combined with obesity, diabetes mellitus, and neurogenous deafness

    Acta Psychiatr Scand

    (1959)
  • J Atkinson et al.

    Screening for refractive errors in 6–9 month old infants by photorefraction

    Br J Ophthalmol

    (1984)
  • E Auerbach et al.

    An electrophysiological and psychophysical study of two forms of congenital night-blindness

    Invest Ophthalmol

    (1969)
  • K Auerbach et al.

    Achromatopsia with amblyopia. A psychophysical study of 5 cases

    Doc Ophthalmol

    (1974)
  • J Babel

    Constations histologiques dans l'amaurose infantile de Leber et dans diverses formes d'héméralopie

    Ophthalmologica

    (1963)
  • L.A. Bard et al.

    Retinal involvement in thoracic-pelvic-phalangeal dystrophy

    Acta Ophthalmol

    (1978)
  • M.E. Barricks et al.

    Paradoxical pupillary responses in congenital stationary night blindness

    Arch Ophthalmol

    (1977)
  • R.G. Barth et al.

    A milder varient of Zellweger syndrome

    Eur J Pediatr

    (1985)
  • F.E. Batten

    Cerebral degeneration with symmetrical changes in the maculae in two members of a family

    Trans Ophthalmol Soc UK

    (1903)
  • P.J. Benke et al.

    New form adrenoleukodystrophy

    Hum Genet

    (1981)
  • E. Botshauser et al.

    Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation, and ataxia associated with dysplasia of the cerebellar vermis

    Neuropediatrica

    (1977)
  • J.A. Bovino et al.

    Leber's congenital amaurosis in monozygotic twins

    Am J Ophthalmol

    (1988)
  • P Bowen et al.

    A familial syndrome of multiple congenital defects

    Bull Johns Hopkins Hosp

    (1964)
  • R.D. Brod et al.

    Diagnosis of neuronal ceroid lipofuscinosis by ultrastructural examination of peripheral blood lymphocytes

    Arch Ophthalmol

    (1987)
  • D. Calver et al.

    The extra digit. A pointer to the eye?

    Trans Ophthalmol Soc UK

    (1981)
  • R.E. Carr

    Congenital stationary nightblindness

    Trans Am Ophthalmol Soc

    (1974)
  • E Chew et al.

    Yellowish flecks in Leber's congenital amaurosis

    Br J Ophthalmol

    (1984)
  • S.M.Z. Cohen et al.

    Ocular histopathologic studies of neonatal and childhood adrenoleukodystrophy

    Am J Ophthalmol

    (1983)
  • F. Cunier

    Histoire d'une hémérolopie, héréditaire depuis deux siècles dans une famille de la commune de Vandemian, pres Montpellièr

    Ann Soc Med de Gand

    (1838)
  • P Curatolo et al.

    Joubert syndrome: a case confirmed by computed tomography

    Dev Med Child Neurol

    (1980)
  • A Dekaban et al.

    Congenital amaurosis of retinal origin. Frequent association with neurological disorders

    Arch Neurol

    (1966)
  • A.S. Dekeban

    Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain

    Am J Ophthalmol

    (1969)
  • A.S. Dekaban

    Mental retardation and neurological involvement in patients with congenital retinal blindness

    Dev Med Child Neurol

    (1972)
  • W.C. Edwards et al.

    Tapeto-retinal degeneration associated with renal disease

    J Pediatr Ophthalmol Strabismus

    (1981)
  • J Elk et al.

    Peroxisomal dysfunction in a boy with neurologic symptoms and amaurosis; clinical and biochemical findings similar to those observed in Zellweger syndrome

    J Pediatr

    (1986)
  • P.P. Ellis et al.

    Osteopetrosis—a clinical study of optic nerve involvement

    Am J Ophthalmol

    (1962)
  • R.W.B. Ellis et al.

    A syndrome characterized by ectodermal dysplasia, polydactyly, chondro-dysplasia, and congenital morbus cordus. Report of three cases

    Arch Dis Child

    (1940)
  • A.S. Elonen et al.

    Appraisal of developmental lag in certain blind children

    J Pediatr

    (1959)
  • H.F. Falls et al.

    Typical total monochromacy. A histological and psychophysical study

    Arch Ophthalmol

    (1965)
  • J.T. Flynn et al.

    Paradoxical pupil in congenital achromatopsia

    Int Ophthalmol

    (1981)
  • S.G. Foxman et al.

    Leber's congenital amaurosis and high hypermetropia: A discrete entity

  • Cited by (50)

    • Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy

      2010, Progress in Retinal and Eye Research
      Citation Excerpt :

      In order to minimize contributions from slower responding photosensitive ganglion cells (Hattar et al., 2003; Lucas et al., 2003; Tu et al., 2006; Wilhelm, 2008), short duration stimuli can be used and quantitation limited to the early transient portion of the TPLR (Aleman et al., 2004). Clinically, pupillary responses can appear to be normal or sluggish or nonresponsive in LCA (Heher et al., 1992; Lambert et al., 1989); differences likely reflect different levels of retinal function, underlying molecular causes, as well as observation conditions. Using a full-field stimulus to take advantage of the area summation capabilities (Schweitzer and Bouman, 1958), TPLR was recorded in 18 LCA patients of unknown genotype (Aleman et al., 2004).

    • Infants, Toddlers, and Children

      2006, Borish's Clinical Refraction
    • Eye Disorders

      2004, Practical Strategies in Pediatric Diagnosis and Therapy
    View all citing articles on Scopus
    1

    Dr. Lambert is now with the Department of Ophthalmology, Emory University, Atlanta, Georgia.

    View full text