Multimodal morphological and functional characterization of Malattia Leventinese.
BACKGROUND
To analyze the morphological and functional characteristics of malattia leventinese.


METHODS
This was a chart review of patients with Malattia Leventinese. All patients underwent a complete ophthalmologic examination, including best-corrected visual acuity (BCVA), fundus autofluorescence (FAF), fluorescein angiography (FA), indocyanine green angiography (ICGA), and optical coherence tomography (OCT). Microperimetry and Preferential Hyperacuity Perimeter (PHP) were performed in a subset of patients.


RESULTS
Twelve eyes of six patients were included. BCVA ranged from 20/25 to 20/200. The largest drusen were round, not radially distributed, localized in the perimacular area and around the optic disc. The smallest drusen were not round, radially distributed, mostly localized temporally to the macula. FAF revealed an intense autofluorescence of large drusen. On both FA and ICGA, large round drusen turned to hyperfluorescent in the late phase, while small radial drusen progressively decreased their fluorescence. OCT showed the large round drusen as focal or diffuse deposition of hyperreflective material between the RPE and Bruch membrane within the macula, determining focal dome-shaped or diffuse RPE elevation respectively, and the small radial drusen, which ranged from irregular slight thickening of the RPE/Bruch membrane complex to sawtooth RPE elevation. In three patients (six eyes) that underwent microperimetry and PHP, there was a good correspondence between macular sensitivity and PHP score. Functional impairment correlated topographically to sub-RPE deposition of drusenoid material.


CONCLUSIONS
In this series, large round drusen of Malattia Leventinese appeared similar to drusen in age-related macular degeneration, while small radial drusen of Malattia Leventinese shared similarities with early-onset cuticular drusen.
Department of Ophthalmology, University Paris Est Creteil, Centre Hospitalier Intercommunal de Creteil, 40 Avenue de Verdun, 94000 Creteil, France. giuseppe.querques@hotmail.it
Giuseppe
G
Querques
Benjamin
B
Guigui
Nicolas
N
Leveziel
Lea
L
Querques
Francesco
F
Bandello
Eric H
EH
Souied
D000328:Adult; D004396:Coloring Agents; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D016326:Extracellular Matrix Proteins / Q000235:genetics; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D007208:Indocyanine Green; D008268:Macular Degeneration / Q000175:diagnosis / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D015594:Optic Disk Drusen / Q000151:congenital; D015593:Retinal Drusen / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology; D058609:Visual Field Tests; D014794:Visual Fields / Q000502:physiology
D004396:Coloring Agents; C119630:EFEMP1 protein, human; D016326:Extracellular Matrix Proteins; D007208:Indocyanine Green