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Amani Albakri, Abdulaziz Al-Hadlaq, Khaled Abu-Amero, Sawsan R Nowilaty; Fundus Clinical & Multimodal Imaging Features and Genetic Associations of Malattia Leventinese in Saudi Arabian Patients. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):3829.
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© ARVO (1962-2015); The Authors (2016-present)
To highlight the fundus and multimodal imaging features and report the genetic mutations in two Saudi families with Malattia Leventinese (ML), an autosomal dominant drusen dystrophy unreported in the Saudi population, thus far.
Three patients from 2 families with different stages of ML were included: A mother with advanced stage of ML complicated by choroidal neovascularization (CNV), ML was unrecognized until her 33 year old asymptomatic son presented with early, yet typical, features of ML; and an unrelated 46 year old female with progressive central visual loss and features of mid-stage ML. All patients underwent fundus examination and photography, fluorescein angiography (FA), fundus autofluorescence (FAF), spectral domain optical coherence tomography (SD-OCT), macular microperimtery (MP), and genetic analysis.
In all cases, the diagnosis of ML was supported by the fundus and imaging features and confirmed by genetic analysis. Large, round confluent and non-confluent drusen around both the fovea and optic disc, surrounded by smaller radial drusen were evident with retinal pigment hyperplasia in later stages. One eye had CNV. Large drusen exhibited early hypofluorescence and late staining on FA, intense autofluorescence on FAF and presented, on SD-OCT, as hyper-reflective material between the retinal pigment epithelium (RPE) and Bruch membrane (BM) causing focal or diffuse RPE elevations. Radial drusen showed transmission defects on FA, were faintly hyperautofluorescent on FAF, and presented on SD-OCT as irregular thickening of the RPE/BM complex or a saw-tooth RPE elevation. The ellipsoid zone was intact over radial drusen but disrupted over larger drusen. The foveal structure was intact in the early stage. Foveal and subfoveal atrophy were noted in later stages. Central drusen, pigmentary changes and/or retinal atrophy correlated, on MP, with decreased visual sensitivity. A heterozygous mutation (g.57707 C>T; p.345 R>W) in EFEMP1 gene was detected in all 3 cases.
Malattia Leventinese, although rare, is present in Saudi patients and shares the same features and genetic mutation reported worldwide. Its fundus and multimodal imaging features are characteristic, thus help to recognize it. Recognition of ML is important as the condition can progress and lead to serious sight-threatening complications, namely choroidal neovascularization.
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