Frequency of cystoid macular edema and vitreomacular interface disorders in genetically solved syndromic and non-syndromic retinitis pigmentosa

Purpose Retinitis pigmentosa (RP) corresponds to a group of inherited retinal disorders where progressive rod-cone degeneration is observed. Cystoid macular edema (CME) and vitreomacular interface disorders (VMID) are known to complicate the RP phenotype, challenging an age-old concept of retained c...

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Bibliographic Details
Published in:Graefe's archive for clinical and experimental ophthalmology 2022-09, Vol.260 (9), p.2859-2866
Main Authors: Marques, João Pedro, Neves, Emmanuel, Geada, Sara, Carvalho, Ana Luísa, Murta, Joaquim, Saraiva, Jorge, Silva, Rufino
Format: Article
Language:English
Subjects:
Acuity
Cataracts
Degeneration
Edema
Epithelium
Eye
Genetic screening
Heredity
Medicine
Medicine & Public Health
Ophthalmology
Patients
Phenotypes
Quality of life
Regression analysis
Retina
Retinal Disorders
Retinal pigment epithelium
Retinitis
Retinitis pigmentosa
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Summary:Purpose Retinitis pigmentosa (RP) corresponds to a group of inherited retinal disorders where progressive rod-cone degeneration is observed. Cystoid macular edema (CME) and vitreomacular interface disorders (VMID) are known to complicate the RP phenotype, challenging an age-old concept of retained central visual acuity. The reported prevalence of these changes varies greatly among different studies. We aim to describe the frequency of CME and VMID and identify predictors of these changes in a cohort of Caucasian patients with genetically solved syndromic (sRP) and non-syndromic RP (nsRP). Methods Cross-sectional study of patients with genetically solved sRP or nsRP. Genetic testing was clinically oriented in all probands and coordinated by a medical geneticist. The presence/absence of CME and VMIDs such as epiretinal membrane (ERM), vitreomacular traction (VMT), lamellar hole (LH), macular hole (MH), and macular pseudohole (MPH), and the integrity of the neurosensory retina and retinal pigment epithelium were evaluated in individual macular SD-OCT b-scans. Mixed-effects regression analysis models were used to identify significant predictors of BCVA, CME, and VMID. Significance was considered at α  
ISSN:0721-832X
1435-702X
DOI:10.1007/s00417-022-05649-y