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Case Reports
. 2022 Dec 10;8(12):e12210.
doi: 10.1016/j.heliyon.2022.e12210. eCollection 2022 Dec.

Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract

Flavien Rouxel  1 , Julien Fauré  2 , Jean-Michel Faure  3 , Françoise Deschamps  3 , Gilles Burlet  3 , Anaig Flandrin  3 , Alain Couture  4 , Olivier Prodhomme  4 , John Rendu  2 , Marjolaine Willems  1   5
Affiliations
Case Reports

Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract

Flavien Rouxel et al. Heliyon. .

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.

Keywords: Fetus; Isolated cataract; Lowe syndrome; OCRL; X-linked.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Sonography of our case at 24 + 5 weeks (a) and 32 weeks (b) of gestation confirming presence of an isolated bilateral cataract (→). Sonography of a normal fetus at 24 WG (c). Normal lenses (→) appear as thin hyperechoic circle located into the fetal orbits.
Figure 2
Figure 2
MRI of eyes (high resolution 3D T2 weighed image) showing abnormal size of crystalline of the fetus et 25 WG (a) in comparison to control at 26 WG (b). MRI of eyes (high resolution 3D T2 weighed image) of the fetus at 30WG (c) in comparison to control at 32 WG (d).
Figure 3
Figure 3
Normal brain MRI of the fetus at 30 WG: axial 2D HASTE T2-weighted image (a), coronal 2D HASTE T2-weighted image (b) and median line sagittal high resolution 3D T2-weighted image (c).
See this image and copyright information in PMC

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