Self-reported visual function and in-depth swept-source optical coherence tomography features of cystoid macular edema in retinitis pigmentosa DOI Creative Commons
Celso José Costa, Carlos José Nogueira,

Mário Soares

et al.

International Journal of Retina and Vitreous, Journal Year: 2024, Volume and Issue: 10(1)

Published: Nov. 22, 2024

Abstract Purpose To evaluate self-reported visual function in retinitis pigmentosa (RP) patients with and without cystoid macular edema (CME) to explore associations between spaces (CS), retinal morphometric parameters, clinical data using swept-source optical coherence tomography (SS-OCT). Methods In this cross-sectional case-control study (1:3) conducted at an Inherited Retinal Degenerations referral center Portugal, RP CME (matched for age gender) completed the Michigan Degeneration Questionnaire (MRDQ) underwent SS-OCT. Morphometric analysis, including ellipsoid zone area (EZA), was performed by two independent graders. group, detailed CS analysis conducted. Correlations - age, gender, best-corrected acuity (BCVA) MRDQ domains were evaluated. Results The included 23 (60.87% male, mean 44.65 ± 13.58 years) 69 (49.28% 47.94 14.39 years). No significant differences found groups almost all domains, BCVA, or EZA. Age positively correlated 4 both groups. BCVA negatively nearly domains. While EZA showed a negative correlation groups, it only CME. centrally located, outer nuclear layer-involving large associated worse but better Conclusion responses strongly parameters. does not seem affect patients, may worsen function. Thus, aggressive treatment of be necessary.

Language: Английский

STRUCTURAL AND FUNCTIONAL CLINICIAN-REPORTED OUTCOMES SHOW STRONG CORRELATIONS WITH PATIENT-REPORTED OUTCOMES IN RETINITIS PIGMENTOSA DOI Creative Commons

Sofia Teixeira,

Maria Franca, Nuno Gouveia

et al.

Deleted Journal, Journal Year: 2025, Volume and Issue: unknown, P. 100105 - 100105

Published: Feb. 1, 2025

Language: Английский

Citations

0
Usher Syndrome: New Insights into Classification, Genotype–Phenotype Correlation, and Management DOI Open Access
Fabiana D’Esposito, Giuseppe Gagliano, Caterina Gagliano

et al.

Genes, Journal Year: 2025, Volume and Issue: 16(3), P. 332 - 332

Published: March 12, 2025

Background: Usher syndrome (USH), the most common cause of combined deaf-blindness, is a genetically and phenotypically heterogeneous disorder characterized by congenital hearing impairment progressive vision loss due to rod-cone dystrophy. Although original classification in three subtypes (USH I, USH II, III) still valid, recent findings have changed widened perspectives its classification, genotype–phenotype correlations, management strategies: Objective: This study aims provide new insights into syndrome, explore genotype-phenotype review current emerging strategies. Methods: A comprehensive literature has been conducted, incorporating data from clinical studies, genetic databases, patient registries. Results: Recent studies led identification several novel pathogenic variants genes, leading refined subclassifications syndrome. Interactions between different genes being part network this ciliopathy investigated mechanisms unveiled. Significant correlations were found certain genotypes presentation both auditory visual phenotypes. For instance, MYO7A gene (USH1B) generally associated with more severe earlier onset retinal dystrophy, if compared other genes-related forms. Other such as USH1G, traditionally considered causing specific subtype, can display phenotypic heterogeneity some patients. Conclusions: provides better understanding that considers regarding causes features. Precise lead counselling, precise characterization natural history condition, personalized effective approach. progress made research gene-specific therapies appear promising for improving quality life individuals affected

Language: Английский

Citations

0
Patient-Reported Social Impact of Molecularly Confirmed Retinitis Pigmentosa DOI Open Access

Nina Zehe-Lindau,

Birgit Lindau,

Heidi Stöhr

et al.

Journal of Clinical Medicine, Journal Year: 2025, Volume and Issue: 14(9), P. 3229 - 3229

Published: May 6, 2025

Objectives: To evaluate the patient-reported impact of retinitis pigmentosa (RP) in a large patient cohort to identify relevant disease-related disadvantages as key aspects for improvement ophthalmic and social care. Methods: Consecutive patients with molecularly confirmed RP older than 18 years age were identified two tertiary care centers Germany. Patients contacted participate an anonymized query regarding on their vocational training, professional career, social, familial, personal life, well experience ophthalmologic Results: Out 241 patients, 162 responded (67.2%; 52.5% female, 67.3% younger 50 age). While training was limited, careers frequently disrupted early retirement rates 39.8% (≥40 age) 50% (≥50 Most respondents felt restricted participation public life (66.3%). One-fifth complained about financial restrictions; however, one-third this number did not obtain help. A negative familial (21.4%) less reported compared impairments, especially anxiety (74.5%) depression (24.2%). considered adequate; delayed diagnosis (≥two years: 28.6%) initial misdiagnosis (24.0%) frequent. Insufficient psychological support major complaint Conclusions: affects lives multiple aspects. Ophthalmic providers should focus acceleration diagnostic process, easy access assistance support, areas improvement. Improvements these are expected reduce challenges patients. They have rehabilitation, quality life.

Language: Английский

Citations

0
Relationship between the full‐field stimulus test and self‐reported visual function in patients with retinitis pigmentosa: REPEAT Study report No. 3 DOI Creative Commons
Jessica S. Karuntu,

S. B. A. E. Tulp,

Camiel J.F. Boon

et al.

Acta Ophthalmologica, Journal Year: 2024, Volume and Issue: unknown

Published: Dec. 12, 2024

Abstract Purpose To determine the relationship between full‐field stimulus test (FST) and self‐reported visual function using Michigan Retinal Degeneration Questionnaire (MRDQ) in patients with retinitis pigmentosa (RP). Methods In this cross‐sectional study, clinically diagnosed RP ( n = 31) performed FST to retinal sensitivity thresholds for blue, red white stimuli. The difference blue was used identify photoreceptor mediation type. Patients completed MRDQ from which disability Θ ) scores were derived across seven domains. Correlations domain ‐scores analysed Spearman's rank correlation. Results median age 38.0 years, rod‐based 11 (35.5%), cone‐based (22.6%) mixed 13 (41.9%). highest reported domains of ‘ mesopic peripheral function’ scotopic function’. Significant correlations found all chromatic stimuli , photopic . strongest these observed p < 0.001). threshold on significant predictors 0.001), 0.001) Conclusions Strong related rod RP. These findings confirm that can be as an informative relevant endpoint trials when evaluating therapeutic interventions.

Language: Английский

Citations

1
Inherited Retinal Degenerations and Non-Neovascular Age-Related Macular Degeneration: Progress and Unmet Needs DOI Creative Commons
John S. Duncan, Angela Bowman,

Amy Laster

et al.

Translational Vision Science & Technology, Journal Year: 2024, Volume and Issue: 13(12), P. 28 - 28

Published: Dec. 17, 2024

Inherited retinal degeneration (IRD) disease and age-related macular (AMD) are leading causes of irreversible vision loss blindness. Although significant progress has advanced the field in past 5 years, challenges remain. The current article reviews accomplishments research advances that have fueled development treatments for patients with IRD AMD, including first approved gene-augmentation treatment RPE65-related complement inhibition therapies to slow progression geographic atrophy (GA) AMD. outlines opportunities address gaps unmet needs should lead additional toward IRDs non-neovascular AMD future.

Language: Английский

Citations

1
Self-reported visual function and in-depth swept-source optical coherence tomography features of cystoid macular edema in retinitis pigmentosa DOI Creative Commons
Celso José Costa, Carlos José Nogueira,

Mário Soares

et al.

International Journal of Retina and Vitreous, Journal Year: 2024, Volume and Issue: 10(1)

Published: Nov. 22, 2024

Abstract Purpose To evaluate self-reported visual function in retinitis pigmentosa (RP) patients with and without cystoid macular edema (CME) to explore associations between spaces (CS), retinal morphometric parameters, clinical data using swept-source optical coherence tomography (SS-OCT). Methods In this cross-sectional case-control study (1:3) conducted at an Inherited Retinal Degenerations referral center Portugal, RP CME (matched for age gender) completed the Michigan Degeneration Questionnaire (MRDQ) underwent SS-OCT. Morphometric analysis, including ellipsoid zone area (EZA), was performed by two independent graders. group, detailed CS analysis conducted. Correlations - age, gender, best-corrected acuity (BCVA) MRDQ domains were evaluated. Results The included 23 (60.87% male, mean 44.65 ± 13.58 years) 69 (49.28% 47.94 14.39 years). No significant differences found groups almost all domains, BCVA, or EZA. Age positively correlated 4 both groups. BCVA negatively nearly domains. While EZA showed a negative correlation groups, it only CME. centrally located, outer nuclear layer-involving large associated worse but better Conclusion responses strongly parameters. does not seem affect patients, may worsen function. Thus, aggressive treatment of be necessary.

Language: Английский

Citations

0