Myriam Berman - Academia.edu (original) (raw)

Papers by Myriam Berman

Research paper thumbnail of Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype–Phenotype Correlation in 228 Patients

Frontiers in Cell and Developmental Biology, Oct 14, 2021

Purpose: RPGRIP1 encodes a ciliary protein expressed in the photoreceptor connecting cilium. Muta... more Purpose: RPGRIP1 encodes a ciliary protein expressed in the photoreceptor connecting cilium. Mutations in this gene cause ∼5% of Leber congenital amaurosis (LCA) worldwide, but are also associated with cone-rod dystrophy (CRD) and retinitis pigmentosa (RP) phenotypes. Our purpose was to clinically characterize RPGRIP1 patients from our cohort, collect clinical data of additional RPGRIP1 patients reported previously in the literature, identify common clinical features, and seek genotypephenotype correlations. Methods: Clinical data were collected from 16 patients of our cohort and 212 previously reported RPGRIP1 patients and included (when available) family history, best corrected visual acuity (BCVA), refraction, comprehensive ocular examination, optical coherence tomography (OCT) imaging, visual fields (VF), and full-field electroretinography (ffERG). Results: Out of 228 patients, the majority (197, 86%) were diagnosed with LCA, 18 (7%) with RP, and 13 (5%) with CRD. Age of onset was during early childhood (n = 133, average of 1.7 years). All patients but 6 had moderate hyperopia (n = 59, mean of 4.8D), and average BCVA was 0.06 Snellen (n = 124; only 10 patients had visual acuity [VA] > 0.10 Snellen). On funduscopy, narrowing of blood vessels was noted early in life. Most patients had mild bone spicule-like pigmentation starting in the midperiphery and later encroaching upon the posterior pole. OCT showed thinning of the outer nuclear layer (ONL), while cystoid changes and edema were relatively rare. VF were usually very constricted from early on. ffERG responses were non-detectable in the vast majority of cases. Most of the mutations are predicted to be null (363 alleles), and 93 alleles harbored missense mutations. Missense mutations were identified only in two regions: the RPGR-interacting domain and the C2 domains. Biallelic null mutations are mostly

Research paper thumbnail of Comparación de dos test psicofísicos de sensibilidad al contraste en un entorno clínico

Psicologia Usp, Mar 4, 2011

El objetivo de este estudio fue comparar el desempeño de dos test psicofísicos de sensibilidad al... more El objetivo de este estudio fue comparar el desempeño de dos test psicofísicos de sensibilidad al contraste, uno basado en un sistema informatizado-FVC 100-y otro en láminas impresas-VCTS 6500, ambos empleando la discriminación de redes sinusoidales en condiciones de adaptación fotópica. Fueron medidos 45 ojos de 23 personas con edades entre 28 y 70 años. Los sujetos fueron reclutados en un Servicio de Oftalmología al cual concurrieron tanto por consulta como por control. A partir de tomar el criterio clínico como referencia, los resultados muestran que, de los 23 sujetos, en 16 casos ambos sistemas detectaron correctamente su estado visual, en cinco casos (10 ojos) sólo el FVC 100 consiguió hacerlo, mientras que en dos casos este sistema no detectó el problema visual y sí lo hizo el VCTS 6500.

Research paper thumbnail of Clinical characterization and genotype-phenotype correlation in RPGRIP1 patients with autosomal recessive early onset retinal degeneration

Investigative Ophthalmology & Visual Science, Jun 21, 2021

Research paper thumbnail of Clinical characterization and genotype-phenotype correlation in RPGRIP1 patients with autosomal recessive early onset retinal degeneration

Investigative Ophthalmology & Visual Science, Jun 21, 2021

Research paper thumbnail of Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype–Phenotype Correlation in 228 Patients

Frontiers in Cell and Developmental Biology, 2021

Purpose:RPGRIP1 encodes a ciliary protein expressed in the photoreceptor connecting cilium. Mutat... more Purpose:RPGRIP1 encodes a ciliary protein expressed in the photoreceptor connecting cilium. Mutations in this gene cause ∼5% of Leber congenital amaurosis (LCA) worldwide, but are also associated with cone–rod dystrophy (CRD) and retinitis pigmentosa (RP) phenotypes. Our purpose was to clinically characterize RPGRIP1 patients from our cohort, collect clinical data of additional RPGRIP1 patients reported previously in the literature, identify common clinical features, and seek genotype–phenotype correlations.Methods: Clinical data were collected from 16 patients of our cohort and 212 previously reported RPGRIP1 patients and included (when available) family history, best corrected visual acuity (BCVA), refraction, comprehensive ocular examination, optical coherence tomography (OCT) imaging, visual fields (VF), and full-field electroretinography (ffERG).Results: Out of 228 patients, the majority (197, 86%) were diagnosed with LCA, 18 (7%) with RP, and 13 (5%) with CRD. Age of onset was...

Research paper thumbnail of Pupila de Adie

Rev Med Tucuman, Apr 1, 1996

Research paper thumbnail of Comparación de dos test psicofísicos de sensibilidad al contraste en un entorno clínico

Psicologia USP, 2011

El objetivo de este estudio fue comparar el desempeño de dos test psicofísicos de sensibilidad al... more El objetivo de este estudio fue comparar el desempeño de dos test psicofísicos de sensibilidad al contraste, uno basado en un sistema informatizado - FVC 100 - y otro en láminas impresas - VCTS 6500, ambos empleando la discriminación de redes sinusoidales en condiciones de adaptación fotópica. Fueron medidos 45 ojos de 23 personas con edades entre 28 y 70 años. Los sujetos fueron reclutados en un Servicio de Oftalmología al cual concurrieron tanto por consulta como por control. A partir de tomar el criterio clínico como referencia, los resultados muestran que, de los 23 sujetos, en 16 casos ambos sistemas detectaron correctamente su estado visual, en cinco casos (10 ojos) sólo el FVC 100 consiguió hacerlo, mientras que en dos casos este sistema no detectó el problema visual y sí lo hizo el VCTS 6500. Considerando los datos obtenidos se aprecia un mejor desempeño del test informatizado, destacándose la necesidad de continuar trabajando para conseguir un atlas con información de la fu...

Research paper thumbnail of Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype–Phenotype Correlation in 228 Patients

Frontiers in Cell and Developmental Biology, Oct 14, 2021

Purpose: RPGRIP1 encodes a ciliary protein expressed in the photoreceptor connecting cilium. Muta... more Purpose: RPGRIP1 encodes a ciliary protein expressed in the photoreceptor connecting cilium. Mutations in this gene cause ∼5% of Leber congenital amaurosis (LCA) worldwide, but are also associated with cone-rod dystrophy (CRD) and retinitis pigmentosa (RP) phenotypes. Our purpose was to clinically characterize RPGRIP1 patients from our cohort, collect clinical data of additional RPGRIP1 patients reported previously in the literature, identify common clinical features, and seek genotypephenotype correlations. Methods: Clinical data were collected from 16 patients of our cohort and 212 previously reported RPGRIP1 patients and included (when available) family history, best corrected visual acuity (BCVA), refraction, comprehensive ocular examination, optical coherence tomography (OCT) imaging, visual fields (VF), and full-field electroretinography (ffERG). Results: Out of 228 patients, the majority (197, 86%) were diagnosed with LCA, 18 (7%) with RP, and 13 (5%) with CRD. Age of onset was during early childhood (n = 133, average of 1.7 years). All patients but 6 had moderate hyperopia (n = 59, mean of 4.8D), and average BCVA was 0.06 Snellen (n = 124; only 10 patients had visual acuity [VA] > 0.10 Snellen). On funduscopy, narrowing of blood vessels was noted early in life. Most patients had mild bone spicule-like pigmentation starting in the midperiphery and later encroaching upon the posterior pole. OCT showed thinning of the outer nuclear layer (ONL), while cystoid changes and edema were relatively rare. VF were usually very constricted from early on. ffERG responses were non-detectable in the vast majority of cases. Most of the mutations are predicted to be null (363 alleles), and 93 alleles harbored missense mutations. Missense mutations were identified only in two regions: the RPGR-interacting domain and the C2 domains. Biallelic null mutations are mostly

Research paper thumbnail of Comparación de dos test psicofísicos de sensibilidad al contraste en un entorno clínico

Psicologia Usp, Mar 4, 2011

El objetivo de este estudio fue comparar el desempeño de dos test psicofísicos de sensibilidad al... more El objetivo de este estudio fue comparar el desempeño de dos test psicofísicos de sensibilidad al contraste, uno basado en un sistema informatizado-FVC 100-y otro en láminas impresas-VCTS 6500, ambos empleando la discriminación de redes sinusoidales en condiciones de adaptación fotópica. Fueron medidos 45 ojos de 23 personas con edades entre 28 y 70 años. Los sujetos fueron reclutados en un Servicio de Oftalmología al cual concurrieron tanto por consulta como por control. A partir de tomar el criterio clínico como referencia, los resultados muestran que, de los 23 sujetos, en 16 casos ambos sistemas detectaron correctamente su estado visual, en cinco casos (10 ojos) sólo el FVC 100 consiguió hacerlo, mientras que en dos casos este sistema no detectó el problema visual y sí lo hizo el VCTS 6500.

Research paper thumbnail of Clinical characterization and genotype-phenotype correlation in RPGRIP1 patients with autosomal recessive early onset retinal degeneration

Investigative Ophthalmology & Visual Science, Jun 21, 2021

Research paper thumbnail of Clinical characterization and genotype-phenotype correlation in RPGRIP1 patients with autosomal recessive early onset retinal degeneration

Investigative Ophthalmology & Visual Science, Jun 21, 2021

Research paper thumbnail of Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype–Phenotype Correlation in 228 Patients

Frontiers in Cell and Developmental Biology, 2021

Purpose:RPGRIP1 encodes a ciliary protein expressed in the photoreceptor connecting cilium. Mutat... more Purpose:RPGRIP1 encodes a ciliary protein expressed in the photoreceptor connecting cilium. Mutations in this gene cause ∼5% of Leber congenital amaurosis (LCA) worldwide, but are also associated with cone–rod dystrophy (CRD) and retinitis pigmentosa (RP) phenotypes. Our purpose was to clinically characterize RPGRIP1 patients from our cohort, collect clinical data of additional RPGRIP1 patients reported previously in the literature, identify common clinical features, and seek genotype–phenotype correlations.Methods: Clinical data were collected from 16 patients of our cohort and 212 previously reported RPGRIP1 patients and included (when available) family history, best corrected visual acuity (BCVA), refraction, comprehensive ocular examination, optical coherence tomography (OCT) imaging, visual fields (VF), and full-field electroretinography (ffERG).Results: Out of 228 patients, the majority (197, 86%) were diagnosed with LCA, 18 (7%) with RP, and 13 (5%) with CRD. Age of onset was...

Research paper thumbnail of Pupila de Adie

Rev Med Tucuman, Apr 1, 1996

Research paper thumbnail of Comparación de dos test psicofísicos de sensibilidad al contraste en un entorno clínico

Psicologia USP, 2011

El objetivo de este estudio fue comparar el desempeño de dos test psicofísicos de sensibilidad al... more El objetivo de este estudio fue comparar el desempeño de dos test psicofísicos de sensibilidad al contraste, uno basado en un sistema informatizado - FVC 100 - y otro en láminas impresas - VCTS 6500, ambos empleando la discriminación de redes sinusoidales en condiciones de adaptación fotópica. Fueron medidos 45 ojos de 23 personas con edades entre 28 y 70 años. Los sujetos fueron reclutados en un Servicio de Oftalmología al cual concurrieron tanto por consulta como por control. A partir de tomar el criterio clínico como referencia, los resultados muestran que, de los 23 sujetos, en 16 casos ambos sistemas detectaron correctamente su estado visual, en cinco casos (10 ojos) sólo el FVC 100 consiguió hacerlo, mientras que en dos casos este sistema no detectó el problema visual y sí lo hizo el VCTS 6500. Considerando los datos obtenidos se aprecia un mejor desempeño del test informatizado, destacándose la necesidad de continuar trabajando para conseguir un atlas con información de la fu...