title: INSIGHTS INTO AUTOSOMAL DOMINANT STARGARDT-LIKE MACULAR DYSTROPHY THROUGH MULTIMODALITY DIAGNOSTIC IMAGING.
abstract: OBJECTIVE
  Autosomal dominant Stargardt-like macular dystrophy is a rare juvenile macular dystrophy most commonly because of mutations in ELOVL4 and PROM1 genes. In this study, we review a series of cases of Stargardt-like macular dystrophy and use advanced imaging techniques to describe pathophysiologic manifestations.
  
  
  METHODS
  A retrospective medical record review was performed for five patients from two families with ELOVL4 mutation and one patient with PROM1 mutation including reviewing diagnostic imaging, such as fundus photography, spectral domain optical coherence tomography, fundus autofluorescence, and adaptive optics flood-illuminated photography.
  
  
  RESULTS
  All patients had reduced central visual acuity with varying degree of foveal atrophy. In the ELOVL4 group, best-corrected visual acuity ranged from 20/25 to 20/200. Early pathologic changes included thickening of the external limiting membrane and outer nuclear atrophy followed by retinal pigment epithelium loss in later stages. Adaptive optics imaging revealed photoreceptor loss even in early stages with good visual acuity. The PROM1 patient also had similar central vision loss with significant outer nuclear atrophy. In contrast to ELOVL4 mutation, there was more diffuse and patchy retinal pigment epithelium loss throughout the macula.
  
  
  CONCLUSIONS
  Both ELOVL4- and PROM1-related maculopathies are characterized by progressive photoreceptor atrophy and central vision loss. Using advanced diagnostic imaging, early disease changes and disease progression can be characterized.
authors.affiliation: Casey Eye Institute, Oregon Health and Science University, Portland, Oregon.
authors.forename: Neal V
authors.initials: NV
authors.lastname: Palejwala
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Gale
authors.forename: Rebecca F
authors.initials: RF
authors.lastname: Clark
authors.forename: Catie
authors.initials: C
authors.lastname: Schlechter
authors.forename: Richard G
authors.initials: RG
authors.lastname: Weleber
authors.forename: Mark E
authors.initials: ME
authors.lastname: Pennesi
mesh_terms: D000071916:AC133 Antigen; D000293:Adolescent; D000328:Adult; D015703:Antigens, CD / Q000235:genetics*; D001284:Atrophy; D002648:Child; D018450:Disease Progression; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008268:Macular Degeneration / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D064847:Multimodal Imaging; D061848:Optical Imaging; D010375:Pedigree; D010455:Peptides / Q000235:genetics*; D010781:Photography; D020419:Photoreceptor Cells, Vertebrate / Q000473:pathology*; D055213:Retinal Pigment Epithelium / Q000473:pathology*; D012189:Retrospective Studies; D000080362:Stargardt Disease; D041623:Tomography, Optical Coherence; D014786:Vision Disorders / Q000175:diagnosis* / Q000235:genetics; D014792:Visual Acuity / Q000502:physiology
chemical_list: D000071916:AC133 Antigen; D015703:Antigens, CD; C418975:ELOVL4 protein, human; D005136:Eye Proteins; D006023:Glycoproteins; D008565:Membrane Proteins; C000606023:PROM1 protein, human; D010455:Peptides