CNGB1-related rod-cone dystrophy: A mutation review and update.

Cyclic nucleotide-gated channel ß1 (CNGB1) encodes the 240-kDa ß subunit of the rod photoreceptor cyclic nucleotide-gated ion channel. Disease-causing sequence variants in CNGB1 lead to autosomal recessive rod-cone dystrophy/retinitis pigmentosa (RP). We herein present a comprehensive review and analysis of all previously reported CNGB1 sequence variants, and add 22 novel variants, thereby enlarging the spectrum to 84 variants in total, including 24 missense variants (two of which may also affect splicing), 21 nonsense, 19 splicing defects (7 at noncanonical positions), 10 small deletions, 1 small insertion, 1 small insertion-deletion, 7 small duplications, and 1 gross deletion. According to the American College of Medical Genetics and Genomics classification criteria, 59 variants were considered pathogenic or likely pathogenic and 25 were variants of uncertain significance. In addition, we provide further phenotypic data from 34 CNGB1-related RP cases, which, overall, are in line with previous findings suggesting that this form of RP has long-term retention of useful central vision despite the early onset of night blindness, which is valuable for patient counseling, but also has implications for it being considered a priority target for gene therapy trials.

Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort.

Importance: Biallelic variants in CLN3 lead to a spectrum of diseases, ranging from severe neurodegeneration with retinal involvement (juvenile neuronal ceroid lipofuscinosis) to retina-restricted conditions. Objective: To provide a detailed description of the retinal phenotype of patients with isolated retinal degeneration harboring biallelic CLN3 pathogenic variants and to attempt a phenotype-genotype correlation associated with this gene defect. Design, Setting, and Participants: This retrospective cohort study included patients carrying biallelic CLN3 variants extracted from a cohort of patients with inherited retinal disorders (IRDs) investigated at the National Reference Center for Rare Ocular Diseases of the Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts from December 2007 to August 2020. Data were analyzed from October 2019 to August 2020. Main Outcome and Measures: Functional (best-corrected visual acuity, visual field, color vision, and full-field electroretinogram), morphological (multimodal retinal imaging), and clinical data from patients were collected and analyzed. Gene defect was identified by either next-generation sequencing or whole-exome sequencing and confirmed by Sanger sequencing, quantitative polymerase chain reaction, and cosegregation analysis. Results: Of 1533 included patients, 843 (55.0%) were women and 690 (45.0%) were men. A total of 15 cases from 11 unrelated families harboring biallelic CLN3 variants were identified. All patients presented with nonsyndromic IRD. Two distinct patterns of retinal disease could be identified: a mild rod-cone degeneration of middle-age onset (n = 6; legal blindness threshold reached by 70s) and a severe retinal degeneration with early macular atrophic changes (n = 9; legal blindness threshold reached by 40s). Eleven distinct pathogenic variants were detected, of which 4 were novel. All but 1, p.(Arg405Trp), CLN3 point variants and their genotypic associations were clearly distinct between juvenile neuronal ceroid lipofuscinosis and retina-restricted disease. Mild and severe forms of retina-restricted CLN3-linked IRDs also had different genetic background. Conclusions and Relevance: These findings suggest CLN3 should be included in next-generation sequencing panels when investigating patients with nonsyndromic rod-cone dystrophy. These results document phenotype-genotype correlations associated with specific variants in CLN3. However, caution seems warranted regarding the potential neurological outcome if a pathogenic variant in CLN3 is detected in a case of presumed isolated IRD for the onset of neurological symptoms could be delayed.

Social impact indicators in patient diagnosed of senile cataract treated with phacoemulsification plus intraocular lens implantation.

PURPOSE: To analyze indicators of social impact in patients with senile cataract treated with phacoemulsification and intraocular lens (IOL) implant. MATERIAL AND METHODS: Patients ≥ 60 years, better corrected visual acuity (BCVA) ≥ 0.6 logarithm of the minimum angle of resolution (LogMAR) and senile cataract treated with PHACO + IOL for cases and incipient senile cataract without surgical treatment with MVCA < 0.6 LogMAR for controls. Exclusion criteria; pathologies that modify the quality of life. The WHOQOL-OLD test was applied: presurgical, one postoperative month and three postoperative months. RESULTS: 54 controls and 56 cases were included. The preoperative BCVA was 1.57 ± 1.041, third month was 0.68 ± 0.7817 (p < 0.001). The results of the preoperative WHOQOL-OLD survey vs the third month: INT 12.96 versus 11.06 (p < 0001); DAD, 10.48 versus 6.389 (p < 0.00001); SOP 12.07 versus 13.76 (p < 0.0007) and SAB, 13.02 versus 8.648 (p < 0.0001). The survey of the 3rd month versus the controls: INT 9.66 versus 11.06 (p < 0.001); PPF, 13.89 versus 12.39 (p < 0.001) and AUT 12.47 versus 10.15 (p < 0.001). CONCLUSION: Patients, present an improvement in the BCVA that is reflected in the quality of life, this can be interpreted as positive results and should be taken into account to support the surgical indication.

OBJETIVO: Analizar indicadores de calidad de vida en pacientes con catarata senil tratados con facoemulsificación más implante de lente intraocular. MÉTODO: Pacientes a partir de 60 años de edad, con agudeza visual mejor corregida (AVMC) ≥ 0.6 LogMAR y catarata senil tratada con facoemulsificación más implante de lente intraocular para casos y catarata senil incipiente sin tratamiento quirúrgico con AVMC < 0.6 LogMAR para controles. Criterios de exclusión: patologías que modificaran la calidad de vida. Se aplicó la encuesta WHOQOL-OLD en el preoperatorio y a 1 y 3 meses posquirúrgicos. RESULTADOS: 54 controles y 56 casos. La AVMC preoperatoria fue 1.57 ± 1.041, y al tercer mes 0.68 ± 0.7817 (p < 0.001). Los resultados de la encuesta preoperatoria en comparación con el tercer mes fueron: dominio de intimidad 12.96 vs. 11.06 (p < 0.0001); dominio de muerte y agonía 10.48 vs. 6.389 (p <0.00001); dominio de participación social 12.07 vs. 13.76 (p < 0.0007); y dominio de capacidad sensorial 13.02 vs. 8.648 (p < 0.0001). Los resultados de la encuesta del tercer mes en comparación con los controles fueron: dominio de intimidad 9.66 vs. 11.06 (p < 0.001); dominio de actividades pasadas, presentes y futuras 13.89 vs. 12.39 (p < 0.001) y dominio de autonomía 12.47 vs. 10.15 (p < 0.001). CONCLUSIÓN: Los pacientes presentan una mejora en la AVMC y en los resultados de la WHOQOL-OLD, por lo que deben ser tomados en cuenta para apoyar la indicación quirúrgica.

Experience in cataract surgery assisted by femtosecond laser at Fundación Hospital Nuestra Señora de la Luz.

OBJECTIVE: To describe the transoperative results of cataract surgeries assisted by femtosecond laser. METHOD: Observational, descriptive, retrospective and cross-sectional study of 420 surgical records made with the LenSx platform from April 2015 to August 2017. The review of records was made through the internal electronic system accessing the preoperative and postoperative note. The information was collected through a database in Excel. The analysis of variables was performed by means of descriptive statistics with measures of central tendency. RESULTS: 86 files met inclusion criteria. The average age was 63 years. There was a general frequency of complications of 27.9% (24 surgeries). The most frequent complications were incomplete or impermeable corneal wound (37.5%), incomplete capsulorhexis (25%) and posterior capsule rupture (16.7%). CONCLUSIONS: The femtosecond laser technology incorporated in cataract surgery can be considered successful because of a low overall frequency of complications.

OBJETIVO: Describir las complicaciones transoperatorias de las cirugías de catarata asistidas por láser de femtosegundo. MÉTODO: Estudio observacional, descriptivo, retrospectivo y transversal de 420 expedientes de cirugías realizadas con la plataforma LenSx de abril de 2015 a agosto de 2017. La revisión de expedientes se realizó a través del sistema electrónico interno accediendo a las notas preoperatoria y posoperatoria. La información se recopiló en una base de datos Excel. Se realizó el análisis de variables por medio de estadística descriptiva con medidas de tendencia central. RESULTADOS: Cumplieron criterios de inclusión 86 expedientes. La edad promedio de los pacientes fue de 63 años. Se presentó una frecuencia general de complicaciones del 27.9% (24 cirugías). Las complicaciones que ocurrieron con mayor frecuencia fueron herida corneal incompleta o impermeable (37.5%), capsulorrexis incompleta (25%) y rotura de cápsula posterior (16.7%). CONCLUSIONES: La tecnología de láser de femtosegundo incorporada en la cirugía de catarata puede considerarse como exitosa al tener una baja frecuencia general de complicaciones.