Publications by authors named "Martin Meliska"
We aim to report the ocular phenotype and molecular genetic findings in two Czech families with Sorsby fundus dystrophy and to review all the reported pathogenic variants. Two probands with Sorsby fundus dystrophy and three first-degree relatives underwent ocular examination and retinal imaging, including optical coherence tomography angiography. The DNA of the first proband was screened using a targeted ocular gene panel, while, in the second proband, direct sequencing of the coding region was performed.
View Article and Find Full Text PDFPurpose: Danon disease (DD) is a rare X-linked disorder caused by pathogenic variants in LAMP2. DD primarily manifests as a severe cardiomyopathy. An early diagnosis is crucial for patient survival.
View Article and Find Full Text PDFPurpose: To describe the ocular findings of 12 subjects with paraproteinemic keratopathy associated with monoclonal gammopathy of undetermined significance (MGUS).
Methods: Ocular examination included corneal spectral domain optical coherence tomography. In three individuals with an initial diagnosis of a lattice or Thiel-Behnke corneal dystrophy, the TGFBI gene was screened by conventional Sanger sequencing.
Article Synopsis
- Methanol poisoning can lead to serious visual problems, with patients showing signs of optic nerve damage even four years later.
- Results from a study of 42 patients indicate that while the speed of visual responses (P1 latency) improved for most, the overall strength of visual signals (N1P1 amplitude) decreased in nearly half of the patients.
- The genetic factor ApoE4 was linked to worse visual outcomes and brain lesions, suggesting it plays a role in the severity of visual dysfunction following methanol poisoning.
Purpose: In this prospective observational comparative case series, we aimed to study the peripapillary capillary network with spectral-domain optical coherence tomography angiography (OCT-A) in Leber hereditary optic neuropathy (LHON).
Methods: Twelve eyes of six individuals, of these three males (five eyes) after clinical onset of visual impairment were imaged by OCT-A with scans centred on optic discs. Control group consisted of 6 eyes with no visual impairment.
Purpose: To study the dynamics and clinical determinants of chronic retinal nerve fiber layer thickness (RNFL) loss after methanol-induced optic neuropathy.
Design: Prospective cohort study.
Methods: All patients underwent complete ophthalmic evaluation including spectral-domain optical coherence tomography 3 times during 4 years of observation: 4.