PHENOTYPIC VARIABILITY IN A FAMILY WITH X-LINKED RETINITIS PIGMENTOSA: WHEN THE EYES GO WRONG, LOOK AT THE CILIA!
(2013) Congress of the Belgian Society of Internal Medicine — Location: Jette (13.December.2013)
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- Authors
Balligand, Thomas 
- Abstract
- Introduction: X-linked retinitis pigmentosa (RP) is a retinal disease characterized by nyctalopia and progressive vision loss in males. Female carriers are generally less affected. RP GTPase regulator (RPGR) gene is mutated in 70% of cases (OMIM # 300029). To date, RPGR protein functions remain elusive with suggested roles in the primary cilium formation and cytoskeleton stability (e.g. movement of lung cilia, photoreceptors activities and nephrocystin-5 interaction). Case report: A 62-year-old man (patient 1) was referred to our nephrology clinic for the assessment of stage 4 chronic kidney disease and grade 3 hypertension (HTN). His past medical history included agenesis of the corpus callosum (ACC) with moderate neuropsychological deficits, a right nephrectomy for renal carcinoma, severe hearing loss and early blindness secondary to RP. A renal work-up showed a proteinuria of 1.5g/day, with a 9-cm left kidney presenting two microcysts at ultrasonography. The patient’s mother (deceased) had had late-onset blindness and one of his four sisters (patient 2) was hypertensive with a 38-year-old-son (patient 3) suffering from severe RP, in association with recurrent upper respiratory tract infections, bronchiectasis, chronic sinusitis, scoliosis and renal lithiases. Patient 3 had no ACC, HTN, eGFR reduction or proteinuria. RPGR sequencing in all three patients confirmed a deletion of 2 nucleotides (c.1512_1513delCA) in the exon 13 resulting in a frameshift mutation. Conclusion: Rarely, RPGR mutations are associated with primary cilia dyskinesia (OMIM # 300455). However, neurological and/or renal disorders described in this belgian family seem to extend the clinical spectrum of RPGR mutations and provide additional arguments to the essential role of the RPGR protein in primary cilia.
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Citations
Balligand, T., Dahan, K., & Lengele, J.-P. (2013). PHENOTYPIC VARIABILITY IN A FAMILY WITH X-LINKED RETINITIS PIGMENTOSA: WHEN THE EYES GO WRONG, LOOK AT THE CILIA! Acta Clinica Belgica, 68(6), 462. https://hdl.handle.net/2078.5/216632 (Original work published 2013)