Distrofia macular anular benigna

Alamán, A Salinas; Echarri, LM Sádaba; Crespo, Iñigo Corcostegui; Layana, Alfredo García

doi:10.4321/s0365-66912005000100009

Cited by 3 publications

(2 citation statements)

References 5 publications

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“…Other dominant or simplex cases of macular dystrophy that are presumably similar to BCAMD have been reported, but none of them have so far been linked to mutations in IMPG1. [17][18][19][20][21][22] In parallel, a screening of IMPG1 mutations in other forms of inherited macular dystrophy 23 or macular drusen 24 failed to detect a mutation.…”

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confidence: 99%

Mutations in IMPG1 Cause Vitelliform Macular Dystrophies

Manes

Meunier

Ávila-Fernández

et al. 2013

The American Journal of Human Genetics

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Vitelliform macular dystrophies (VMD) are inherited retinal dystrophies characterized by yellow, round deposits visible upon fundus examination and encountered in individuals with juvenile Best macular dystrophy (BMD) or adult-onset vitelliform macular dystrophy (AVMD). Although many BMD and some AVMD cases harbor mutations in BEST1 or PRPH2, the underlying genetic cause remains unknown for many affected individuals. In a large family with autosomal-dominant VMD, gene mapping and whole-exome sequencing led to the identification of a c.713T>G (p.Leu238Arg) IMPG1 mutation, which was subsequently found in two other families with autosomal-dominant VMD and the same phenotype. IMPG1 encodes the SPACR protein, a component of the rod and cone photoreceptor extracellular matrix domains. Structural modeling indicates that the p.Leu238Arg substitution destabilizes the conserved SEA1 domain of SPACR. Screening of 144 probands who had various forms of macular dystrophy revealed three other IMPG1 mutations. Two individuals from one family affected by autosomal-recessive VMD were homozygous for the splice-site mutation c.807+1G>T, and two from another family were compound heterozygous for the mutations c.461T>C (p.Leu154Pro) and c.1519C>T (p.Arg507(∗)). Most cases had a normal or moderately decreased electrooculogram Arden ratio. We conclude that IMPG1 mutations cause both autosomal-dominant and -recessive forms of VMD, thus indicating that impairment of the interphotoreceptor matrix might be a general cause of VMD.

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