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(Investigative Ophthalmology and Visual Science. 2006;47:4719-4724.)
© 2006 by The Association for Research in Vision and Ophthalmology, Inc.
DOI:  10.1167/iovs.05-1488
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Homozygous Deletion Related to Alu Repeats in RLBP1 Causes Retinitis Punctata Albescens

Ghyslaine Humbert,1 Cécile Delettre,1 Audrey Sénéchal,1 Cécile Bazalgette,2 Abdelhamid Barakat,3 Christian Bazalgette,2 Bernard Arnaud,2 Guy Lenaers,1 and Christian P. Hamel1,2

From the Institut des Neurosciences de Montpellier, 1INSERM (Institut National de la Santé et de la Recherche Médicale), Unité 583, Hôpital Saint-Eloi, Montpellier, France; the 2Centre de Référence pour les Maladies Rares Sensorielles Génétiques, Service d’Ophtalmologie, Hôpital Gui de Chauliac, Montpellier, France; and 3Institut Pasteur, Casablanca, Morocco.

PURPOSE. Retinitis punctata albescens (RPA) is an infrequently occurring form of autosomal recessive (and rarely dominant) retinal dystrophy featuring early-onset severe night blindness and tiny, dotlike, white deposits in the fundus. RPA is associated mostly with mutations in RLBP1 and occasionally in RHO, RDS, and RDH5. In this study, mutations were sought in RLBP1, which encodes the retinol binding protein CRALBP in patients with typical RPA.

METHODS. Clinical investigation included funduscopy, visual field testing, electroretinogram recording, and adaptometry. The 7 coding exons (3–9) of RLBP1 and the 15th (last) exon of ABDH2 were PCR amplified and sequenced. Long-distance PCR and cloning of genomic DNA were performed to characterize the deletion.

RESULTS. The study involved a 24-year-old Moroccan patient with typical RPA, born of first-cousin parents. He carried a 7.36-kb homozygous deletion encompassing the last 3 exons of RLBP1 (7, 8, and 9) and part of the intergenic region between RLBP1 and ABHD2, which lies downstream of RLBP1. This deletion abolishes the retinal binding site of CRALBP. The telomeric breakpoint of the deletion (in RLBP1 intron 6) is embedded in an Alu element, whereas the centromeric breakpoint (in the intergenic region) lies between two Alu elements placed in the opposite orientation.

CONCLUSIONS. Because of the high density of Alu elements in RLBP1, a systematic search should be made for deletions in this gene when one or both alleles lack point mutations, in the case of RPA or flecked retinal dystrophy.




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L. Kohn, M. S. I. Burstedt, F. Jonsson, K. Kadzhaev, E. Haamer, O. Sandgren, and I. Golovleva
Carrier of R14W in Carbonic Anhydrase IV Presents Bothnia Dystrophy Phenotype Caused by Two Allelic Mutations in RLBP1
Invest. Ophthalmol. Vis. Sci., July 1, 2008; 49(7): 3172 - 3177.
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Copyright © 2006 by the Association for Research in Vision and Ophthalmology