Retinal structure in young patients aged 10 years or less with Best vitelliform macular dystrophy.
OBJECTIVE
Our aim was to analyze retinal structure in young patients with Best disease with reference to future gene therapy.


METHODS
This was a retrospective observational spectral domain optical coherence tomography study of four patients aged 10 years or less with Best disease.


RESULTS
Findings ranged from subtle thickening at the level of the retinal pigment epithelium-photoreceptor interdigitation line, to subretinal fluid and precipitate-like changes at the level of the photoreceptor outer segments, and further to choroidal neovascularization. The photoreceptor inner segment ellipsoid layer could be visualized seemingly undisturbed above the vitelliform lesions, except in the case of choroidal neovascularization.


CONCLUSIONS
Clinical variability is evident even among young patients aged 10 years or less with Best disease. The earliest structural alterations seem to occur at the level of the retinal pigment epithelium-photoreceptor interdigitation line. The photoreceptor inner segment seems to be unaffected unless choroidal neovascularization develops, which seems promising regarding future gene therapy.
Department of Ophthalmology, Clinical Sciences, Scane County University Hospital, University of Lund, 22185, Lund, Sweden. patrik.schatz@med.lu.se.|Department of Ophthalmology, Glostrup Hospital, Glostrup, Denmark. patrik.schatz@med.lu.se.|National Eye Clinic, Kennedy Center, Glostrup, Denmark. patrik.schatz@med.lu.se.
Patrik
P
Schatz
Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Dror
D
Sharon
Department of Ophthalmology, Glostrup Hospital, Glostrup, Denmark.|National Eye Clinic, Kennedy Center, Glostrup, Denmark.
Sermed
S
Al-Hamdani
Department of Ophthalmology, Clinical Sciences, Scane County University Hospital, University of Lund, 22185, Lund, Sweden.
Sten
S
Andréasson
Department of Ophthalmology, Glostrup Hospital, Glostrup, Denmark.|National Eye Clinic, Kennedy Center, Glostrup, Denmark.|Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Michael
M
Larsen
D020533:Angiogenesis Inhibitors / Q000627:therapeutic use; D000075002:Bestrophins; D002648:Child; D018118:Chloride Channels / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics; D005451:Fluorescein Angiography; D006801:Humans; D008297:Male; D009154:Mutation; D010778:Photochemotherapy; D020419:Photoreceptor Cells, Vertebrate / Q000473:pathology; D000069579:Ranibizumab / Q000627:therapeutic use; D012160:Retina / Q000473:pathology*; D055213:Retinal Pigment Epithelium / Q000473:pathology; D012189:Retrospective Studies; D041623:Tomography, Optical Coherence; D042461:Vascular Endothelial Growth Factor A / Q000037:antagonists & inhibitors; D057826:Vitelliform Macular Dystrophy / Q000188:drug therapy / Q000235:genetics / Q000473:pathology*
D020533:Angiogenesis Inhibitors; C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins; C467484:VEGFA protein, human; D042461:Vascular Endothelial Growth Factor A; D000069579:Ranibizumab
BEST1; Best vitelliform macular dystrophy; Optical coherence tomography; Retinal degeneration