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Clinical Pediatrics
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Seven Hereditary Syndromes with Pigmentary Retinopathy

A Review and Differential Diagnosis

Arnaldo Cantani

Departments of Pediatrics and Ophthalmology, University of Roma "La Sapienza," the Department of Otorhinolaryngology, Catholic University of the Sacred Heart, and the Division of Ophthalmology, Pediatric Hospital "Bambino Gesú," Roma, Italy

Paolo Bellioni

Departments of Pediatrics and Ophthalmology, University of Roma "La Sapienza," the Department of Otorhinolaryngology, Catholic University of the Sacred Heart, and the Division of Ophthalmology, Pediatric Hospital "Bambino Gesú," Roma, Italy

Gabriele Bamonte

Departments of Pediatrics and Ophthalmology, University of Roma "La Sapienza," the Department of Otorhinolaryngology, Catholic University of the Sacred Heart, and the Division of Ophthalmology, Pediatric Hospital "Bambino Gesú," Roma, Italy

Fabrizio Salvinelli

Departments of Pediatrics and Ophthalmology, University of Roma "La Sapienza," the Department of Otorhinolaryngology, Catholic University of the Sacred Heart, and the Division of Ophthalmology, Pediatric Hospital "Bambino Gesú," Roma, Italy

Marina Tucci Bamonte

Departments of Pediatrics and Ophthalmology, University of Roma "La Sapienza," the Department of Otorhinolaryngology, Catholic University of the Sacred Heart, and the Division of Ophthalmology, Pediatric Hospital "Bambino Gesú," Roma, Italy

This article reviews several autosomal recessive syndromes characterized by pigmentary retinopathy and, in many, combined with deafness, hypogonadism, and/or mental retardation. These syndromes are manifested in infancy and childhood. Although no specific treatment is available, an early diagnosis can be the first step in initiating symptomative management and preventive measures for the patient and family.

Clinical Pediatrics, Vol. 24, No. 10, 578-583 (1985)
DOI: 10.1177/000992288502401006
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J. M. Lewis
Cockayne's Syndrome
Clinical Pediatrics, March 1, 1987; 26(3): 156 - 156.
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