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Genetic heterogeneity in primary congenital glaucoma^*

Andréa Trevas Maciel

Departamento de Genética Médica, PCM, UNICAMP, Caixa Postal 6111, 13100 Campinas, SP, Brasil

ABSTRACT

Primary Congenital Glaucoma (PCG) is usually considered to be inherited as a monogenic autosomal recessive trait. However, analysis of cases from the pertinent literature and of cases studied by the author revealed that PCG is, in fact, a heterogeneous genetic entity, since at least two mono-genic autosomal types of this disease, a recessive one and a dominant one, were detected. Nevertheless, the etiology of PCG remains undefined in a large number of cases. A thorough clinical and genetic investigation of this disease by geneticists and ophthalmologists is strongly needed.

Keywords: genetic; heterogeneity; congenital; glaucoma.

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* Part of a thesis submitted by the author to the Instituto de Biologia, UNICAMP, Campinas, SP, in partial fulfillment of the requirements for the Master's degree