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- Magliyah, Moustafa S., et al.
(författare)
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Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 with a Recessively Inherited Macular Dystrophy
- 2021
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Ingår i: JAMA Ophthalmology. - : American Medical Association (AMA). - 2168-6165. ; 139:3, s. 339-339
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Tidskriftsartikel (refereegranskat)abstract
- Importance: Homozygous variants in the neuronal ceroid lipofuscinosis type 5 (CLN5) gene are associated with neuronal ceroid lipofuscinosis, a progressive neurologic disorder that leads to ataxia, seizures, and early death. The association between a homozygous variant in this gene and a macular dystrophy is described here. Objective: To describe an autosomal recessive macular dystrophy associated with a recurrent variant in CLN5. Design, Setting, and Participants: This cohort study took place at a national referral center and had a follow-up duration ranging between 1 and 5 years. All patients who were identified to carry a specific homozygous missense variant in CLN5, among more than 2000 patients who were diagnosed with or suspected to have retinal dystrophies, who did not carry this variant, were included. Data were collected between June 2014 and September 2020. Exposures: All patients who were sampled for DNA analysis due to molecularly unconfirmed retinal dystrophy and who were subsequently identified to carry the homozygous missense variant c.415T>C (p.Phe139Leu) in CLN5 were included, while patients who did not carry the variant were excluded. Main Outcomes and Measures: Retinal phenotype associated with this specific homozygous missense variant in CLN5. Results: Seven affected patients (mean [SD] age, 43 [18] years; age range, 33-52 years; 5 male) carried the homozygous missense in CLN5. All patients were diagnosed as having a macular dystrophy. Four patients had mild electroretinographic alterations. All patients had hypoautofluorescent maculas with retinal thinning (central subfield thickness, 80 µm). Visual acuity ranged between 2/200 and 20/100. Neurologic symptoms were mild (dizziness) in 5 patients and absent in 2 patients. Neuroimaging demonstrated cerebellar atrophy and white matter lesions, respectively, in 2 patients. Conclusions and Relevance: These results suggest that CLN5, similar to CLN7, may be associated with isolated macular dystrophy as well as neuronal ceroid lipofuscinosis. The variant c.415T>C p.Phe139Leu does not seem to be associated with any prominent neurologic disease at least until the fourth to sixth decades of life. These findings may imply a specific role of CLN5 in macular neurons. Additional study is suggested, such as molecular screening for this variant in cohorts of patients with undiagnosed macular dystrophies and biological studies of its molecular effects..
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| 3. |
- Smaali, A., et al.
(författare)
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Pulsed laser deposited transparent and conductive V-doped ZnO thin films
- 2020
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Ingår i: Thin Solid Films. - : Elsevier. - 0040-6090 .- 1879-2731. ; 700
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Tidskriftsartikel (refereegranskat)abstract
- ZnO and vanadium-doped ZnO (0.7–4.1 at.%) thin films were deposited onto corning glass substrates by the pulsed laser deposition technique using a KrF excimer laser (λ = 248 nm). The films were deposited at 500 °C under an oxygen pressure of 1 Pa with a laser fluence of 2 J/cm2. The structural, morphological, optical and electrical properties as a function of the dopant atomic concentration were investigated by means of X-ray diffraction, Scanning Electron Microscopy, spectrophotometry, conductivity and Hall measurements. All the doped and undoped films show a preferential orientation along the c-axis with a deterioration at higher doping levels (>4 at. %). Besides, as the doping amount increases the in-plane stress leads to an increase of the c-axis lattice parameter. The films are transparent within the wavelength range 400–1200 nm. The electrical resistivity of the films drops from 8.2 10−3 to 1.3 10−3 Ω cm with an increase in the dopant concentration up to 0.9 at. % and then rises as the dopant level is increased further.
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