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Deze abstract is toegekend aan sessie SBO-BOG free papers: Medische retina en Uveïtis/ Rétine médicale et uvéite
TitelDifferent phenotypes related to different abca4 genotypes in one family
Abstract Nr.141
DoelTo describe the presence of different retinal dystrophy phenotypes among members of one family displaying either a variant of very mild to severe Stargardt disease (STGD) or retinitis pigmentosa (RP), as a result of a combination of different mutations in ABCA4.
Methodes5 affected and 7 unaffected members of one retinal dystrophy family underwent a complete ophthalmic work-up. All family members were subsequently genotyped for ABCA4.
ResultatenTwo sisters were diagnosed with a very mild phenotype of STGD of middle age onset. Both were compound heterozygous for a frequent mild founder mutation in the Western European population (2588G>C) and the IVS40+5G>A splice mutation. Their visual acuity was 20/20 in both eyes. Both were examined after the son of the elder sister and the daughter of the younger sister presented with visual loss due to STGD with two ABCA4 mutations each (2588G>C & IVS38-10T>C and IVS38-10T>C & IVS40+5G>A respectively). Their STGD was of childhood onset. Interestingly, a cousin of the two sisters showed a much more severe phenotype corresponding to RP. She was homozygous for the IVS38-10T>C splice mutation.
ConclusieDifferent mutations in ABCA4 can be the cause of STGD and RP within one family. Depending on the deleterious effect on protein production and function, phenotypes may vary from very mild to severe. These findings support the genotype-phenotype correlation model for ABCA4 mutations by Klevering et al., which suggests an inverse relationship between the presumed residual ABCA4 function and disease severity.

Klevering BJ et al., BJO 1999, 83, 914-8
Auteur 1
NaamBREUSEGEM
InitialenCM
InstituutDept Ophth Ghent Univ Hosp
StadGhent
Auteur 2
NaamDE BAERE
InitialenE
InstituutCtr Med Genet Ghent Univ Hosp
StadGhent
Auteur 3
NaamGOES Jr
InitialenF
InstituutGoes Eye Center
StadAntwerp
Auteur 4
NaamLEROY
InitialenBP
InstituutDept Ophth & Ctr Med Genet Ghent Univ Hosp
StadGhent
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