Multidisciplinary approach to inherited causes of dual sensory impairment.

PURPOSE: This article presents a review of the main causes of inherited dual sensory impairment (DSI) with an emphasis on the multidisciplinary approach. METHODS: A narrative review of English literature published before January 2023 was conducted using PubMed, Medline, and Scopus databases. The different causes of inherited DSI are discussed from a multidisciplinary perspective. RESULTS: There are a wide range of dual sensory impairment (DSI), commonly referred to as blindness and deafness. While Usher syndrome is the most frequent genetic cause, other genetic syndromes such as Alport syndrome or Stickler syndrome can also lead to DSI. Various retinal phenotypes, including pigmentary retinopathy as seen in Usher syndrome, vitreoretinopathy as in Stickler syndrome, and macular dystrophy as in Alport syndrome, along with type of hearing loss (sensorineural or conductive) and additional systemic symptoms can aid in diagnostic suspicion. A thorough ophthalmologic and otorhinolaryngologic examination can help guide diagnosis, which can then be confirmed with genetic studies, crucial for determining prognosis. Effective hearing rehabilitation measures, such as hearing implants, and visual rehabilitation measures, such as low vision optical devices, are crucial for maintaining social interaction and proper development in these patients. CONCLUSIONS: While Usher syndrome is the primary cause of inherited dual sensory impairment (DSI), other genetic syndromes can also lead to this condition. A proper diagnostic approach based on retinal phenotypes and types of hearing loss can aid in ruling out alternative causes. Multidisciplinary approaches can assist in reaching a definitive diagnosis, which has significant prognostic implications.

Automated analysis of choroidal thickness in patients with systemic lupus erithematosus treated with hydroxychloroquine.

PURPOSE: To evaluate the influence of hydroxychloroquine (HCQ) in choroidal thickness (CT) in patients with systemic lupus erythematous (SLE), considering the possible impact of disease activity on the choroid. METHODS: Cross-sectional study comparing three groups: two groups of SLE patients treated with HCQ without HCQ-retinopathy (32 eyes/32 patients with < 5 years of HCQ (group 1) and 44 eyes/44 patients with > 5 years of HCQ (group 2)), and an age-matched healthy control group of 46 eyes/46 patients (group 3). A complete ophthalmic examination was performed, including swept-source optical coherence tomography (SS-OCT) Triton (Topcon). Data were correlated to systemic disease activity parameters. RESULTS: CT was thicker in group 1 compared to group 3 in central, nasal, and superior sectors, and to group 2 in inner superior and outer inferior sectors (p < 0.05). In the correlation analysis, disease activity and CT were inversely correlated in most sectors (p < 0.05). In the regression analysis, HCQ was related to thinner CT in temporal and inferior sectors and disease activity with variations in nasal sectors (p < 0.05). CONCLUSIONS: In SLE patients, HCQ is correlated to decreased CT, especially in the inferior and temporal areas. The choroid shows different responses to SLE activity and HCQ, and some sectors may be more sensitive than others.

Vision-Related Quality of Life in Patients with Systemic Lupus Erythematosus.

PURPOSE: To assess vision-related quality of life (VRQoL) in patients with systemic lupus erythematosus (SLE) under treatment with hydroxychloroquine (HCQ), and to find the influencing factors. METHODS: Cross-sectional study enrolling SLE patients for less than ten years (Group 1), SLE patients for more than ten years (Group 2), and healthy controls (Group 3). SLE patients should be under treatment with HCQ but without ophthalmological affection. Schirmer test, best-corrected visual acuity (BCVA), axial length (AL) with optical biometry, and swept-source optical coherence tomography-angiography (OCTA) Triton (Topcon) were performed. All participants fulfilled the Impact of Visual Impairment questionnaire, and SLE patients answered the Lupus Impact Tracker (LIT) questionnaire. Additional data were obtained from clinical records. RESULTS: A totals of 41 eyes (41 patients), 31 eyes (31 patients) and 45 eyes (45 volunteers) were enrolled in the study groups. The mean ages were 41.09 ± 9.56, 45.06 ± 8.47 and 40.25 ± 10.83 years, respectively (p = 0.10). The LIT outcomes were 33.49 ± 20.74 and 35.98 ± 22.66 (p = 0.63), respectively. Group 3 referred to a better VRQoL than Group 2 in all categories and than Group 1 in some of them. A linear regression analysis showed that serum ferritin, SLE activity scales, body-mass index (BMI), age, and BCVA influenced VRQoL. The LIT questionnaire was correlated to two categories of the Impact of Visual Impairment questionnaire (IVI). CONCLUSIONS: Despite no ophthalmological affection, SLE patients refer to poorer VRQoL because of disease activity and a low health-related quality of life, which has a negative influence on VRQoL. This masks the effect of other ophthalmological conditions such as dry eyes. Other variables influencing VRQoL are age and BMI, and BCVA, to a lesser extent.