March 2012
Volume 53, Issue 14
Free
ARVO Annual Meeting Abstract  |   March 2012
Delta1-pyrroline-5-carboxylate Synthase Deficiency: Histological Study Of The Crystalline Lens
Author Affiliations & Notes
  • Olivier Roche
    Ophthalmology, Hosp Necker Enfants-Malades / APHP, Paris, France
  • Elias ADJADJ
    Ophthalmology, Hosp Necker Enfants-Malades / APHP, Paris, France
  • Matthieu ROBERT
    Ophthalmology, Hosp Necker Enfants-Malades / APHP, Paris, France
  • Christophe ORSSAUD
    Ophthalmology, Hosp Necker Enfants-Malades / APHP, Paris, France
  • Jean Michel ROZET
    Genetic, Hosp Necker Enfants-Malades / APHP / INSERM, Paris, France
  • Josseline KAPLAN
    Genetic, Hosp Necker Enfants-Malades / APHP / INSERM, Paris, France
  • Jean Louis DUFIER
    Ophthalmology, Hosp Necker Enfants-Malades / APHP, Paris, France
  • Footnotes
    Commercial Relationships  Olivier Roche, None; Elias Adjadj, None; Matthieu Robert, None; Christophe Orssaud, None; Jean Michel Rozet, None; Josseline Kaplan, None; Jean Louis Dufier, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science March 2012, Vol.53, 1058. doi:
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      Olivier Roche, Elias ADJADJ, Matthieu ROBERT, Christophe ORSSAUD, Jean Michel ROZET, Josseline KAPLAN, Jean Louis DUFIER; Delta1-pyrroline-5-carboxylate Synthase Deficiency: Histological Study Of The Crystalline Lens. Invest. Ophthalmol. Vis. Sci. 2012;53(14):1058.

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

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Abstract

Purpose: : To describe ocular clinical and pathological features of a newly recognized inborn error in Δ1-pyrroline-5-carboxylate synthase (P5CS) MIM 138250. PC5S is a mitochondrial enzyme playing a critical role in the synthesis of proline, ornithine and arginine. P5CS deficiency leads to mental retardation by progressive neurodegeneration, peripheral neuropathy, joint and skin hyperlaxity.

Methods: : We describe ocular clinical phenotype and lens histological characteristics of two patients in a family with a P5CS deficiency. Patients were siblings of a blood relative marriage between first cousin Algerian parents. The oldest, a boy and his affected sister had two healthy brothers, a third died in the neonatal period in Algeria from unknown cause.

Results: : Both children presented a bilateral acquired cortical cataract. The sister was examined at 2 months. Her visual behaviour was normal. The ocular anatomy was normal. At 2 years the examination showed a bilateral cortical cataract with multiples white nummular opacities. Cataract was diagnosed on the boy at age 4 during a comprehensive clinical evaluation. The rest of the eye examination was found normal on both children. Cataract was surgically removed on both patients and histological study of lens fragments revealed a positive catalase reaction. Electron microscopy showed an abnormal accumulation of large peroxisomes in lens in comparison with control crystalline lens of healthy subject (lens extract from enucleation in a case of retinoblastoma). Five years after surgery, visual acuity of the sister was 20/30 and 20/40 for the brother.

Conclusions: : Δ1-pyrroline-5-carboxylate synthase deficiency is responsible for acquired cataract in children with unusual pathological characteristics including accumulation of peroxisomes in lens.

Keywords: metabolism • cataract • crystallins 
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