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. 1999 Aug;83(8):914–918. doi: 10.1136/bjo.83.8.914

Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene

B Klevering 1, M van Driel 1, D J R van de Pol 1, A Pinckers 1, F Cremers 1, C Hoyng 1
PMCID: PMC1723135  PMID: 10413692

Abstract

AIMS—To describe two phenotypic variations of autosomal recessive retinal dystrophy occurring in a consanguineous family in a pseudodominant pattern, resulting from mutations in the ATP binding cassette transporter (ABCR) gene.
METHODS—Patients of this family underwent an extensive ophthalmic evaluation, including fundus photography, fluorescein angiography, and electroretinography (ERG). Genetic analysis comprised sequence analysis of the retina specific ABCR gene.
RESULTS—Five patients presented with decreased visual acuity in the second decade, central chorioretinal atrophy associated with a central scotoma, and severely decreased photopic and scotopic ERG responses. This clinical picture, which in our opinion resembles a cone-rod dystrophy (CRD), was associated with compound heterozygosity for IVS30+ 1g →t and IVS40+5g→a mutations in the ABCR gene. The four remaining patients presented with night blindness in the first decade because of a retinitis pigmentosa-like (RP-like) dystrophy. In addition to a pale "waxy" optic disc, attenuated retinal vessels and bone spicule deposits, a widespread chorioretinal atrophy was observed. The scotopic ERG was extinguished and the photopic ERG was severely diminished. Genetic analysis revealed a homozygous 5' splice mutation IVS30+1g →t in the ABCR gene.
CONCLUSION—Mutations in the ABCR gene can cause clinical pictures resembling autosomal recessive RP and autosomal recessive CRD.



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Figure 1  .

Figure 1  

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Pedigree of the RP-like/CRD-like family. The black bar represents the D1S406/D1S236 haplotype carrying IVS30+1g→t mutation (30), the shaded bar contains the IVS40+5g→a mutation (40) in the ABCR gene. The diamond symbol denotes healthy children of IV-7 and IV-8.

Figure 2  .

Figure 2  

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Patient V-5 (A) with CRD-like dystrophy in an early stage (28 years of age) and the same patient (B) at a later stage (54 years of age). Patient V-11 with CRD-like dystrophy in a late stage (C). Three patients with RP-like dystrophy: (D) patient V-9; (E) patient V-12; (F) patient V-3.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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