May 2005
Volume 46, Issue 13
ARVO Annual Meeting Abstract  |   May 2005
Molecular Analysis of the CYP1B1 Gene in the Peters’– Plus Syndrome
Author Affiliations & Notes
  • A. Moreno–García
    Instituto de Oftalmología Conde de Valenciana, Mexico city, Mexico
  • J.C. Zenteno
    Genetics Department,
    Instituto de Oftalmología Conde de Valenciana, Mexico city, Mexico
  • H. Mejía– López
    Research Department,
    Instituto de Oftalmología Conde de Valenciana, Mexico city, Mexico
  • Footnotes
    Commercial Relationships  A. Moreno–García, None; J.C. Zenteno, None; H. Mejía– López, None.
  • Footnotes
    Support  None.
Investigative Ophthalmology & Visual Science May 2005, Vol.46, 1840. doi:
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      A. Moreno–García, J.C. Zenteno, H. Mejía– López; Molecular Analysis of the CYP1B1 Gene in the Peters’– Plus Syndrome . Invest. Ophthalmol. Vis. Sci. 2005;46(13):1840.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract: : Purpose: To describe the phenotypic and ophthalmologic features of a patient with the Peters’–plus syndrome. Methods: After physical and ophthalmological evaluation, genomic DNA was obtained from blood lymphocytes and the entire coding sequence of the CYP1B1 gene was amplified by PCR using pairs of primers derived from the normal CYP1B1 published sequence (GenBank sequence AY393998). Direct sequencing of PCR amplified products was performed with the Big Dye Terminator Cycle Sequencing kit (Applied Biosystems) adding ∼10 ng of template DNA in each reaction. Samples were run in an ABI Prism 310 Genetic Analyzer (Applied Biosystems) and both sense and antisense strands were analyzed. Results: A 14–years–old girl complaining of poor visual acuity and bilateral corneal opacity since childhood was seen in our institution. Her corrected visual acuity was 20/50 in the right eye and 20/60 in the left eye. Ocular motility was full. Both eyes presented an inferior paracentral corneal opacity and iris processes extending to it. Pupilar reaction to light was normal. The lens of the right eye showed a central posterior capsule opacity without sinequiae to iris. The gonioscopy revealed an open grade 3 for 360° and intraocular pressure was 14 mmHg in both eyes. Optic nerve and fundi were normal. Clinical examination revealed short stature, triangular face, small and posteriorly rotated ears, smooth phyltrum, small mouth with cupid’s bow of the upper lip, high palate, short and broad neck, strikingly broad hands with bilateral fifth digit camptodactyly, cubitus valgus, broad and flat feet, and bilateral gap between first and second toes. Brain computed tomography and X–rays of long bones were normal. Renal ultrasonography showed duplicated collecting system in left kidney, whereas spine X–rays demonstrated lumbosacral transitional vertebra; echocardiographic examination revealed minimal mitral valve insufficiency. After sequencing the entire coding region of the CYP1B1 gene, no deleterious mutations were demonstrated in our patient with Peters’–plus syndrome. Conclusions: Our molecular data exclude CYP1B1 as the gene responsible for the Peters’–plus phenotype. The identification of affected patients with specific chromosomal rearrangements and/or linkage analyses in familial cases will help to locate a locus for this unusual syndromic form of dysgenesis of the anterior chamber of the eye.

Keywords: anterior segment • gene mapping 

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