Resumo

HAMMOND FIGUEROA, Frank G. Visual deficiencies in 13 children: diagnosis, causes and genetic counselling. Arch Venez Puer Ped [online]. 2011, vol.74, n.4, pp.143-150. ISSN 0004-0649.

The alteration of some of the structures of the eye may produce visual deficiencies and these can be benign, moderate or severe, of genetic or environmental origin. The severe visual deficit is incapacitating for a child and the associated pathologies increase his limitations and dependency. Genetic counseling and preventive measures are intended to help the parents in having a healthy child. OBJECTIVES: To determine the diagnoses and the genetic or environmental causes of visual deficiencies in 13 children and the genetic counseling given to the mothers or couples. METHODS: This is a retrospective and descriptive study. We reviewed the medical records of all the 13 children with visual deficiencies and the mothers or couples who attended the Genetic Diagnosis and Counseling Clinic, Physical Medicine and Rehabilitation Service, University Hospital “Dr. Antonio M. Pineda”, in Barquisimeto, from March 2007 to November 2008. RESULTS: 8 males and 5 females. In our first consultation the average age of the patients was 4 years 10 months. The average age of the mothers was 30 years. First pregnancy: 7/13. The average age of the fathers was 37 years. Five patients had visual deficiencies of genetic causes: congenital bilateral glaucoma (2), bilateral retinoblastoma due to new mutation (2) and bilateral retinoblastoma of paternal origin. Those of environmental causes were diagnosed in 8 patients, mainly: retinopathy of the premature, optic atrophy, cortical visual deficit, chorioretinitis and microphtalmos. CONCLUSIONS: Many visual deficiencies can be prevented with genetic counseling, preventive measures, good prenatal control and optimum obstetric and neonatal care.

Palavras-chave : Visual Deficiencies; Causes; Genetic Counselling; Prevention.