Seven hereditary syndromes with pigmentary retinopathy. A review and differential diagnosis.
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.
D000013:Congenital Abnormalities / Q000150:complications / Q000235:genetics; D003638:Deafness / Q000150:complications / Q000151:congenital / Q000235:genetics; D048909:Diabetes Complications; D003920:Diabetes Mellitus / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D030342:Genetic Diseases, Inborn / Q000150:complications* / Q000235:genetics; D006801:Humans; D007006:Hypogonadism / Q000150:complications / Q000235:genetics; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D007849:Laurence-Moon Syndrome / Q000150:complications / Q000235:genetics; D008297:Male; D009765:Obesity; D012174:Retinitis Pigmentosa / Q000150:complications* / Q000235:genetics; D013577:Syndrome