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Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
Multimodal morphological and functional characterization of Malattia Leventinese
Giuseppe Querques1, Benjamin Guigui, Nicolas Leveziel
1Department of Ophthalmology, University Paris Est Creteil, Centre Hospitalier Intercommunal de Creteil, 40 Avenue de Verdun, 94000 Creteil, France. giuseppe.querques@hotmail.it
Malattia Leventinese presents with two distinct drusen types: large, round ones resembling age-related macular degeneration, and smaller, radial ones similar to early-onset cuticular drusen. Functional impairment correlates with sub-RPE deposits.
Area of Science:
- Ophthalmology
- Medical Genetics
- Retinal Diseases
Background:
- Malattia Leventinese is a rare genetic disorder affecting vision.
- Understanding its morphological and functional characteristics is crucial for patient management.
Purpose of the Study:
- To analyze the morphological and functional characteristics of Malattia Leventinese.
- To differentiate between drusen types and their clinical implications.
Main Methods:
- Chart review of patients diagnosed with Malattia Leventinese.
- Comprehensive ophthalmologic examinations including visual acuity, fundus autofluorescence (FAF), fluorescein angiography (FA), indocyanine green angiography (ICGA), and optical coherence tomography (OCT).
- Microperimetry and Preferential Hyperacuity Perimeter (PHP) in a subset of patients.
Main Results:
- Twelve eyes from six patients were analyzed.
- Large drusen were round, perimacular, and intensely autofluorescent.
- Small drusen were radial, temporally located, and showed decreased fluorescence.
- Optical coherence tomography revealed sub-RPE deposits correlating with functional impairment.
Conclusions:
- Large round drusen in Malattia Leventinese resemble those in age-related macular degeneration.
- Small radial drusen share similarities with early-onset cuticular drusen.
- Functional deficits correlate topographically with sub-RPE drusenoid material deposition.
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