Publications by authors named "Maria Inmaculada Martin-Merida"
Article Synopsis
- The study aimed to explore the relationship between genetic variants and visual outcomes in patients with retinopathy.
- Three patient groups were analyzed based on genetic variants: two loss-of-function (TLOF), two missense (TM), and one of each (MLOF).
- Results showed that patients with missense variants (TM) had better visual acuity and structural integrity compared to those with TLOF, suggesting differences in prognosis and implications for future gene therapy.
Purpose: To describe the detailed retinal phenotype of KCNV2-associated retinopathy.
Study Design: Multicenter international retrospective case series.
Methods: Review of retinal imaging including fundus autofluorescence (FAF) and optical coherence tomography (OCT), including qualitative and quantitative analyses.
Purpose: To investigate genetics, electrophysiology, and clinical course of KCNV2-associated retinopathy in a cohort of children and adults.
Study Design: This was a multicenter international clinical cohort study.
Methods: Review of clinical notes and molecular genetic testing.
Human iPSC line, IISHDOi006-A, was obtained from fibroblasts of a patient with Dominant Optic Atrophy (DOA) carrying a heterozygous mutation in the gene ACO2: c.1999G>A; p.Glu667Lys.
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