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