Genetic profile of syndromic retinitis pigmentosa in Portugal.

PURPOSE: Retinitis pigmentosa (RP) comprises a genetically and clinically heterogeneous group of inherited retinal degenerations, where 20-30% of patients exhibit extra-ocular manifestations (syndromic RP). Understanding the genetic profile of RP has important implications for disease prognosis and genetic counseling. This study aimed to characterize the genetic profile of syndromic RP in Portugal. METHODS: Multicenter, retrospective cohort study. Six Portuguese healthcare providers identified patients with a clinical diagnosis of syndromic RP and available genetic testing results. All patients had been previously subjected to a detailed ophthalmologic examination and clinically oriented genetic testing. Genetic variants were classified according to the American College of Medical Genetics and Genomics; only likely pathogenic or pathogenic variants were considered relevant for disease etiology. RESULTS: One hundred and twenty-two patients (53.3% males) from 100 families were included. Usher syndrome was the most frequent diagnosis (62.0%), followed by Bardet-Biedl (19.0%) and Senior-Løken syndromes (7.0%). Deleterious variants were identified in 86/100 families for a diagnostic yield of 86.0% (87.1% for Usher and 94.7% for Bardet-Biedl). A total of 81 genetic variants were identified in 25 different genes, 22 of which are novel. USH2A and MYO7A were responsible for most type II and type I Usher syndrome cases, respectively. BBS1 variants were the cause of Bardet-Biedl syndrome in 52.6% of families. Best-corrected visual acuity (BCVA) records were available at baseline and last visit for 99 patients (198 eyes), with a median follow-up of 62.0 months. The mean BCVA was 56.5 ETDRS letters at baseline (Snellen equivalent ~ 20/80), declining to 44.9 ETDRS letters (Snellen equivalent ~ 20/125) at the last available follow-up (p < 0.001). CONCLUSION: This is the first multicenter study depicting the genetic profile of syndromic RP in Portugal, thus contributing toward a better understanding of this heterogeneous disease group. Usher and Bardet-Biedl syndromes were found to be the most common types of syndromic RP in this large Portuguese cohort. A high diagnostic yield was obtained, highlighting current genetic testing capabilities in providing a molecular diagnosis to most affected individuals. This has major implications in determining disease-related prognosis and providing targeted genetic counseling for syndromic RP patients in Portugal.

Quality of Life Analysis in Patients with Retinitis Pigmentosa.

INTRODUCTION: Retinitis pigmentosa (RP) is a chronic progressive disease causing loss of visual acuity and ultimately blindness. This visual impairment can contribute to psychiatric comorbidity and worse overall quality of life (QOL). Our goal was to assess the relationship between the severity of disease for people with RP and QOL as it pertains to mental health, social support, disability resources, and financial factors. METHODS: This was a survey study conducted from June 2021 to February 2022 including 38 people with RP. QOL was assessed through a survey questionnaire focusing specifically on demographics, visual function, family, employment, social support, and mental health/well-being. Statistical analysis was conducted using a χ2 test for significance. RESULTS: A best corrected visual acuity (BCVA) of less than 20/200 (p = 0.0285) and living alone (p = 0.0358) were both statistically significant independent risk factors for experiencing depressive symptoms. Highest education level attained and unemployment rate were not found to be related to the development of depressive symptoms. Subjects had a higher unemployment rate (64% vs. US rate of 3.6%) and a high likelihood of reporting depressive symptoms (47.4%). CONCLUSION: People with RP are more likely to be unemployed and to develop depressive symptoms when compared to the general population. Similar to previous studies' findings, those with a BCVA of less than 20/200 were statistically more likely to experience depressive symptoms; living alone is a novel risk factor that is also associated with the presence of depressive symptoms. Contrary to prior findings, highest education level and unemployment status were found not to be related to the development of depressive symptoms. These patients may benefit from regular depression screenings and optional establishment of care with a psychiatrist or psychologist if they live alone or their BCVA is 20/200 or worse.

Características clínicas y evolución de la retinosis pigmentaria en los adolescentes / Clinical characteristics and evolution of retinosis pigmentosa in adolescents

Introducción. La retinosis pigmentaria es la causa más frecuente de distrofia retiniana. En la adolescencia comienzan enfermedades oculares de tipo distrófico, origen genético y curso progresivo. El objetivo del presente estudio fue identificar las características clínicas y evolución de la retinosis pigmentaria en la adolescencia. Métodos. Se realizó un estudio descriptivo y prospectivo en jóvenes de edad entre 10 y 14 años (Grupo I), y entre 15 y 19 años (Grupo II), de uno y otro sexo, que fueron atendidos en el Centro de Retinosis Pediátrico Nacional entre 2002 y 2006. Se observó herencia, síntomas, edad, tiempo transcurrido, enfermedades generales y electrorretinograma. Los medios transparentes, fondo de ojo, biomicroscopia y perimetría se hicieron al inicio, al año y al final del estudio. Se clasificaron los casos en 4 estadios atendiendo a la agudeza y campo visual. Resultados. Predominaron los pacientes del sexo masculino y color blanco de la piel. Se hallaron opacidades del cristalino en 61 ojos (71,4 por ciento), principalmente en el grupo 2. Al final del estudio 32 adolescentes (76,2 por ciento) no tuvieron evolución progresiva; 5 (11,9 por ciento), medianamente progresiva y 5 (11,9 por ciento), muy progresiva, con marcado empeoramiento de la función visual. Conclusiones. Las características de la retinosis pigmentaria identificadas en la mayoría de los jóvenes concuerdan con los primeros estadios de la enfermedad. La evolución durante 5 años no ha sido progresiva en la mayoría de los adolescentes de uno y otro grupo, lo que nos hace considerar que los cambios biológicos de esta etapa de la vida, aparentemente no influyen empeorando el curso de la enfermedad ocular.

Introduction. Retinosis pigmentosa is the most frequent cause of retina dystrophy. Ocular diseases of dystrophic type, genetic origin and progressive course appear in adolescence. The objective of the present study is to identify the clinical characteristics and evolution of retinosis pigmentosa in adolescence. Methods. A descriptive and prospective study was conducted among young subjects aged 10-14 (group 1) and 15-19 (group II) of both sexes that were seen at the National Pediatric Centre of Retinosis between 2002 and 2006. Heredity, symptoms, age, time elapsed; general diseases and electroretinogram were observed. The transparent means, fundus oculi, biomicroscopy and perimetry were performed at the beginning, at a year and at the end of the study. Taking into consideration the acuity and visual field, the cases were classified into 4 stages. RESULTS. White males prevailed. Opacities of the crystalline were found in 61 eyes (71.4 percent), mainly in group 2. At the end of the study, 32 adolescents (76.2 percent) had no progressive evolution; 5 (11.9 percent), fairly progressive; and 5 (11.9 percent), very progressive, with a marked worsening of the visual function. Conclusions. The characteristics of retinosis pigementosa identified in most of the youth agreed with the first stages of the disease. The evolution has not been progressive in most of the adolescents of both groups, which makes us think that the biological changes of this stage of life do not apparently worsen the course of the ocular disease.

El proceso de atención de enfermería en la retinosis pigmentaria / The nursing care process in retinosis pigmentosa

La Retinosis Pigmentaria o también conocida como Retinis Pigmentosa es una enfermedad crónica degenerativa y progresiva, cuya afectación incide en la retina y el epitelio pigmentoso, que se caracteriza por pérdida progresiva de la visión, específicamente con reducción del campo visual. Su incidencia en la población mundial la coloca en el quinto lugar entre las enfermedades hereditarias, y es la cuarta causa de discapacidad visual severa. Motivados por la alta incidencia de esta patología, nos propusimos aplicar una revisión actualizada sobre la Retinosis Pigmentaria y la aplicación del Proceso de Atención de Enfermería a pacientes que padecen esta enfermedad; se efectuó una revisión de los Procesos de Atención de Enfermería aplicados a pacientes venezolanos, ingresados en el Centro Internacional de Retinosis Pigmentaria Camilo Cienfuegos en el período comprendido entre noviembre del 2001 a noviembre del 2005, y se realizó además búsqueda de bibliografía actualizada sobre el tema, específicamente de aspectos básicos, estadísticos y conceptos en el ámbito nacional e internacional. Como resultado de este estudio se describen elementos esenciales de esta enfermedad y se propone un esquema de aplicación del Proceso de Atención de Enfermería a los pacientes. La utilidad de este trabajo radica en que aporta nociones teóricas actualizadas de esta enfermedad, de gran beneficio para el profesional de enfermería, partiendo de la escasa existencia de literatura al respecto con la visión profesional de la enfermería(AU)

Pigmentary retinosis, also known as Retinitis Pigmentosa, is a progressive and degenerative chronic disease, which affects retina and the pigmentary epithelium, characterized by progressive loss of vision, specifically with reduction of the visual field. At a global level, its incidence is in the fifth place among hereditary diseases, and it is the fourth cause of severe visual disability. Because of the high incidence of this pathology, we proposed to apply an updated review on Retinitis Pigmentosa and the implementation of a Nursing Care Process in patients presenting with this condition, as well as a review of the application of this process to Venezuelan patients admitted in “Camilo Cienfuegos” International Center for Retinitis Pigmentosa from November 2001 to November 2005.It was made a search of the updated bibliography on this topic, specifically of the basic, statistical features, and of the concepts in the national and international spheres. As result of this study the essential elements of this conditions are described, and a scheme for the application of the Nursing Care Process to the patients is recommended. This paper is very useful, since it provides updated theoretical notions of this condition that are advantageous for the nursing professional, taking into account the scarce information existing on this regard from the nursing professional view(AU)

Retinitis pigmentosa in Puerto Rico

INTRODUCTION: Previous studies have reported that the prevalence of retinitis pigmentosa (RP) varies between one per 3,000 to one in per 5,000 in the general population. PURPOSE: To study the incidence and ocular findings of RP in a sub-urban community in Puerto Rico. METHODS: We conducted a non-concurrent prospective study of 10,100 patients in a sub-urban San Juan community. RESULTS: 44 out of the 10,100 patients had RP (0.44). Eight out of the 44 patients (18) had nystagmus, twenty-eight (31.8) had microcornea, 3 patients (6.8) had sluggish papillary reaction. Six patients (13.6) had mild cataracts, 27 (65.9)had attenuated retinal vessels and thirty five patients (81.4) had bony spicules. Fifteen patients (34.1) out of the 44 had retinitis pigmentosa as part of the Bardet-Biedl syndrome. CONCLUSION: Incidence of RP in Puerto Rico is higher when compared to Maine and Spain (p < 0.001). Autosomal recessive pattern of inheritance is the most common in Puerto Rico. These findings could be due to the island's geographic isolation, and inbreeding.

Glaucoma agudo primário e retinose pigmentar / Primary angle closure glaucoma and retinitis pigmentosa

Os autores descrevem 4 casos da associaçäo de glaucoma agudo primário e retinose pigmentar, condiçäo esta pouco descrita na literatura. Discute-se a possível relaçäo causal entre as duas patologias, ou se tal associaçäo teria ocorrido ao acaso

Sindrome de Usher en una poblacion sorda colombiana / Usher syndrome in a deaf colombian population

El sindrome de Usher es definido como la combinacion de retinitis pigmentosa y sordera neurosensorial congenita variable. Se presentan los hallazgos clinicos de 81 pacientes detectados, y se hacen las consideraciones sobre los mecanismos de herencia e incidencia de esta afeccion.

Retinitis pigmentosa en San Ramón / Retinitis pigmentosa in San Ramón

Debido a problemas visuales en personas procedentes de San Ramón, se estudió esta pequeña comunidad rural, detectándose 6 casos de Retinitis Pigmentosa (RP), (frecuencia 2,8 por ciento ), todos los parientes entre sí y con antecedente de consanguinidad. Se estableció un patrón de herencia autosómico recesivo de RP y alta frecuencia de consanguinidad (53 por ciento de matrimonios consanguíneos)

Distrofias retinianas: retinosis pigmentada (RP) (Bastón-Cono) (Primera Parte)

Dentro de las distrofias retinianas, la Retinosis Pigmentada está considerada como un grupo de enfermedades con disfunción progresiva por involucro de los fotorreceptores, caracterizada por la presencia de nictalopia, disminución progresiva del campo visual y antecedentes hereditarios. Se revisa su prevalencia, presentación según su tipo, y enfermedades asociadas, conformando síndromes. Asimismo el diagnóstico, evaluación de métodos de apoyo diagnóstico, pronóstico y manejo, así como la necesidad del estudio genético para tipificación y consejo para su manejo integral