Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract
Abstract
Background Lowe syndrome is a rare disease characterized by the association of congenital cataract, hypotonia, followed by global psychomotor delay and intellectual disability, as well as progressive renal dysfunction, and renal failure occurring at around 20 years of age. Case presentation We discuss the case of a male fetus diagnosed with isolated bilateral cataract on the sonography performed at 21 + 5 weeks of gestation, confirmed by a fetal MRI at 23 weeks of gestation. After ruling out infectious etiologies, a genetic consult was conducted at 26 weeks of gestation, and an amniocentesis was realized to search for a chromosomal cause, Norrie's disease and Lowe syndrome by Sanger analysis. A c.1351G > A (p.Asp451Asn) hemizygous mutation in OCRL gene was identified, inherited from the mother, which led to the diagnosis of Lowe syndrome in the fetus. Conclusions This is the first case of Lowe syndrome diagnosed prenatally on an isolated cataract, which allows the discussion of a more extensive etiological research when a male fetus is diagnosed with isolated bilateral cataract, by including notably a systematic analysis of the OCRL gene.
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BibTeX
@article{rouxel2026prenatal,
title = {{Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract}},
author = {Flavien Rouxel and Julien Fauré and Jean-Michel Faure and Françoise Deschamps and Gilles Burlet and Anaig Flandrin and Alain Couture and Olivier Prodhomme and John Rendu and Marjolaine Willems},
journal = {Heliyon},
year = {2026},
month = oct,
doi = {10.1016/j.heliyon.2022.e12210},
url = {https://hal.science/hal-05788881v1},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract
AU - Flavien Rouxel
AU - Julien Fauré
AU - Jean-Michel Faure
AU - Françoise Deschamps
AU - Gilles Burlet
AU - Anaig Flandrin
AU - Alain Couture
AU - Olivier Prodhomme
AU - John Rendu
AU - Marjolaine Willems
PY - 2026
DA - 2026/10/09
JO - Heliyon
DO - 10.1016/j.heliyon.2022.e12210
UR - https://hal.science/hal-05788881v1
AB - Background Lowe syndrome is a rare disease characterized by the association of congenital cataract, hypotonia, followed by global psychomotor delay and intellectual disability, as well as progressive renal dysfunction, and renal failure occurring at around 20 years of age. Case presentation We discuss the case of a male fetus diagnosed with isolated bilateral cataract on the sonography performed at 21 + 5 weeks of gestation, confirmed by a fetal MRI at 23 weeks of gestation. After ruling out infectious etiologies, a genetic consult was conducted at 26 weeks of gestation, and an amniocentesis was realized to search for a chromosomal cause, Norrie's disease and Lowe syndrome by Sanger analysis. A c.1351G > A (p.Asp451Asn) hemizygous mutation in OCRL gene was identified, inherited from the mother, which led to the diagnosis of Lowe syndrome in the fetus. Conclusions This is the first case of Lowe syndrome diagnosed prenatally on an isolated cataract, which allows the discussion of a more extensive etiological research when a male fetus is diagnosed with isolated bilateral cataract, by including notably a systematic analysis of the OCRL gene.
SN - 2405-8440
ER -