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Complete achromatopsia associated with skeletal anomalies: a new autosomal recessive syndrome
J E García-Ortiz1, D García-Cruz, R Mendoza-Topete
1Departamento de Immunobiología Molecular, Centro de Investigación, Biomédica, Facultad de Medicina Universidad Autónoma de Coahuila, Torreón, Coahuila, México.
Abstract:
Complete achromatopsia associated with skeletal anomalies: a new autosomal recessive syndrome: Achromatopsia or rod monochromatism is the complete absence of color discrimination, with an estimated frequency of 1 in 100,000. To date the McKusick Catalogue includes more than 10 entities related to Achromatopsia. This paper describes four Mexican sibs with a stationary rod monochromatism, associated with long fingers and toes, hypothenar and thenar hypoplasia and pes planus, suggesting a new genetic entity probably inherited in an autosomal recessive mode.
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