RESUMEN
Purpose: To describe the clinical, electrophysiological and genetic spectrum of inherited retinal diseases associated with variants in the PRPH2 gene. Methods: A total of 241 patients from 168 families across 15 sites in 9 countries with pathogenic or likely pathogenic variants in PRPH2 were included. Records were reviewed for age at symptom onset, visual acuity, full-field ERG, fundus colour photography, fundus autofluorescence (FAF), and SD-OCT. Images were graded into six phenotypes. Statistical analyses were performed to determine genotype-phenotype correlations. Results: The median age at symptom onset was 40 years (range, 4-78 years). FAF phenotypes included normal (5%), butterfly pattern dystrophy, or vitelliform macular dystrophy (11%), central areolar choroidal dystrophy (28%), pseudo-Stargardt pattern dystrophy (41%), and retinitis pigmentosa (25%). Symptom onset was earlier in retinitis pigmentosa as compared with pseudo-Stargardt pattern dystrophy (34 vs 44 years; P = 0.004). The median visual acuity was 0.18 logMAR (interquartile range, 0-0.54 logMAR) and 0.18 logMAR (interquartile range 0-0.42 logMAR) in the right and left eyes, respectively. ERG showed a significantly reduced amplitude across all components (P < 0.001) and a peak time delay in the light-adapted 30-Hz flicker and single-flash b-wave (P < 0.001). Twenty-two variants were novel. The central areolar choroidal dystrophy phenotype was associated with 13 missense variants. The remaining variants showed marked phenotypic variability. Conclusions: We described six distinct FAF phenotypes associated with variants in the PRPH2 gene. One FAF phenotype may have multiple ERG phenotypes, demonstrating a discordance between structure and function. Given the vast spectrum of PRPH2 disease our findings are useful for future clinical trials.
Asunto(s)
Electrorretinografía , Periferinas , Fenotipo , Distrofias Retinianas , Agudeza Visual , Humanos , Periferinas/genética , Persona de Mediana Edad , Adulto , Masculino , Femenino , Adolescente , Distrofias Retinianas/genética , Distrofias Retinianas/fisiopatología , Distrofias Retinianas/diagnóstico , Anciano , Agudeza Visual/fisiología , Niño , Adulto Joven , Preescolar , Tomografía de Coherencia Óptica , Mutación , Angiografía con Fluoresceína , Estudios de Asociación Genética , Estudios Retrospectivos , Análisis Mutacional de ADN , ADN/genética , LinajeRESUMEN
PURPOSE: To report our experience with intravitreal injection of bevacizumab in the treatment of cuticular drusen-associated choroidal neovascularization. METHODS: An interventional case report. A 38-year-old woman presented with decreased visual acuity in her right eye and cuticular drusen-associated choroidal neovascularization. RESULTS: Prolonged (12 months) remission of choroidal neovascularization after 3 monthly bevacizumab injections with improvement in visual acuity from 20/120 to 20/20. CONCLUSION: The use of antivascular endothelial growth factor in the management of cuticular drusen-associated choroidal neovascularization seems to be an effective method of treatment showing both resolution of optical coherence tomography changes and improvement in visual acuity in this case. However, further studies with bigger sample size and longer follow-up are required to confirm the findings.