Seven Hereditary Syndromes with Pigmentary Retinopathy
- 1 October 1985
- journal article
- review article
- Published by SAGE Publications in Clinical Pediatrics
- Vol. 24 (10) , 578-583
- https://doi.org/10.1177/000992288502401006
Abstract
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.Keywords
This publication has 16 references indexed in Scilit:
- An unusual otological manifestation of Usher's syndrome in four siblingsClinical Genetics, 1983
- Urologic manifestations of laurence-moon-biedl syndromeUrology, 1983
- Ocular and Systemic Manifestations of the Bardet-Biedl SyndromeAmerican Journal of Ophthalmology, 1982
- Hepatic involvement in the Bardet-Biedl syndromeAmerican Journal of Medical Genetics, 1982
- Bardet-Biedl Syndrome and Related DisordersArchives of Ophthalmology (1950), 1982
- A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intoleranceThe American Journal of Medicine, 1976
- REPORT OF THREE CASES WITH FURTHER DELINEATION OF THE CLINICAL, PATHOPHYSIOLOGICAL, AND GENETIC ASPECTS FO THE DISORDERMedicine, 1973
- The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in SwitzerlandJournal of the Neurological Sciences, 1969
- Heart disease in the Laurence-Moon-Biedl-Bardet syndrome: A review and a report of 3 brothersThe Journal of Pediatrics, 1964
- DYSTROPHIA ADIPOSOGENITALIS, WITH ATYPICAL RETINITIS PIGMENTOSA AND MENTAL DEFICIENCY???THE LAURENCE-BIEDL SYNDROMEThe Lancet Healthy Longevity, 1925