A Syndrome of Congenital Retinal Dystrophy and Saccade Palsy--a Subset of Leber's Amaurosis

Overview

Journal Br J Ophthalmol

Specialty Ophthalmology

Date 1984 Jun 1

PMID 6722075

Citations 11

Authors

A T Moore

D S Taylor

Affiliations

Soon will be listed here.

Abstract

Three children who presented in infancy with a severe visual defect and absent or barely recordable electroretinograms, with relatively well preserved visually evoked cortical potentials, were subsequently found to have vertical and horizontal saccade palsies with head thrusts but relatively good visual acuity. These children, who were clearly different from other infants with congenital retinal dystrophy, were also developmentally delayed and had systemic motor and speech defects, but their visual prognosis was relatively good. The recognition of their saccade palsy was delayed because their poor visual attention in infancy was ascribed purely to the tapetoretinal degeneration. We consider these patients represent a clear subset of those patients who are diagnosed as having congenital retinal dystrophy or Leber's amaurosis.

Citing Articles

Visual Evoked Potentials in Joubert Syndrome: A Suggested Useful Method for Evaluating Future Approaches Targeted to Improve Visual Pathways' Function.

Ruberto G, Parisi V, Bertone C, Signorini S, Antonini M, Valente E Adv Ther. 2020; 38(1):278-289.

PMID: 33098555 PMC: 7854410. DOI: 10.1007/s12325-020-01534-4.

Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment.

Ruberto G, Parisi V, Bertone C, Signorini S, Antonini M, Valente E Adv Ther. 2020; 37(9):3827-3838.

PMID: 32671685 PMC: 7444391. DOI: 10.1007/s12325-020-01432-9.

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.

Brooks B, Zein W, Thompson A, Mokhtarzadeh M, Doherty D, Parisi M Ophthalmology. 2018; 125(12):1937-1952.

PMID: 30055837 PMC: 8932443. DOI: 10.1016/j.ophtha.2018.05.026.

Joubert syndrome: insights into brain development, cilium biology, and complex disease.

Doherty D Semin Pediatr Neurol. 2009; 16(3):143-54.

PMID: 19778711 PMC: 2804071. DOI: 10.1016/j.spen.2009.06.002.

Eye movement abnormalities in Joubert syndrome.

Weiss A, Doherty D, Parisi M, Shaw D, Glass I, Phillips J Invest Ophthalmol Vis Sci. 2009; 50(10):4669-77.

PMID: 19443711 PMC: 3919872. DOI: 10.1167/iovs.08-3299.

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