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Beitragstitel A novel heterozygous compound mutation in ABCA4 gene linked to late-onset Stargardt disease revealed in the differential diagnosis of early AMD
Beitragscode P46
Autor:innen
  1. Walter Ferrini Swiss Visio La Providence Präsentierende:r
  2. Daniel F. Schorderet Faculté de Biologie et Médecine, Université de Lausanne et Faculté des Sciences de la Vie, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland
  3. Konstantinos Nicopoulos Unilabs
  4. Aude Ambresin Swiss Visio Montchoisi and Swiss Visio retina Research Center, Lausanne, Switzerland
Präsentationsform ePoster
Themengebiete
  • Retina Vitreous
Abstract-Text Purpose: Stargardt disease-1 (STGD1) is an autosomal recessive dystrophy caused by homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22. The residual function of the ABCA4 protein is correlated with disease severity. Clinical phenotype of STGD1 can therefore occurs at various age including childhood, adult or late onset presentations. The aim of our case report is to describe a patient referred for advice on the diagnosis of early AMD.

Methods: Full ophthalmic exam, multimodal imaging and genotyping was performed for a suspect differential diagnosis of early onset AMD.

Results: a 61-year-old male patient complained of jumbling reading with the right eye since few months. Familial history was negative. Best corrected far and near visual acuity were 1.0 in both eyes. Fundus examination showed irregular shaped and slightly yellow deposits suggesting macular flecks. Fundus autofluorescence imaging showed prominently hyperautofluorescent deposits sparing the peripapillary region. SDOCT scan showed deposits located above the pigmentary epithelium (PE) and foci of disrupted ellipsoid zone and PE. The patient presented a phenotype consistent with late-onset STGD1. Genotyping showed a p.Asn1868Ile combined with a compound p.Tyr1779Ser variant.

Conclusion: Late-onset STGD1 remains an underdiagnosed disease while carrying similar phenotypic features with age-related macular degeneration. Asn1868Ile is the most frequent allele variant found in STGD1. To our knowledge, Tyr1779Ser has never been described. Accurate phenotypic and genotypic identification is crucial both for upcoming therapeutic clinical trials for STGD1 and in the differential diagnosis of AMD as recent therapeutical advances are emerging.