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PURPOSE: Williams-Beuren syndrome (WBS) is a rare genetic disease characterized by psychomotor delay, cardiovascular, musculoskeletal, and endocrine problems. Retinal involvement, which is not well characterized, has also been described. The purpose of this cross-sectional study is to describe the characteristics in optical coherence tomography (OCT) and OCT-angiography (OCTA) of patients with WBS. METHODS: We included patients with WBS confirmed by genetic analysis. The patients underwent OCT (30° × 25°, 61 B-scans) and OCTA (10° × 10° and 20° × 20°) examinations, all centered on the. Data on retinal thickness (total, inner and outer layers) and foveal morphology on OCT and vessel and perfusion density in OCTA (VD and PD, respectively) were collected. These data were compared with an age-matched control group. RESULTS: 22 eyes of 22 patients with WBS (10 females, mean age 31.5 years) were included. Retinal thickness (and specifically inner retinal layers) in OCT was significantly reduced in all sectors (central, parafoveal, and perifoveal) compared to the control group (p < 0.001 in all sectors). Fovea in WBS eyes was broader and shallower than controls. The PD and VD in both 10 and 20 degrees of fields in OCTA was significantly reduced in patients with WBS, in all vascular plexa (all p < 0.001). CONCLUSIONS: This study is the first to quantify and demonstrate retinal structural and microvascular alterations in patients with WBS. Further studies with longitudinal data will reveal the potential clinical relevance of these alterations.
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Vasos Retinianos , Síndrome de Williams , Femenino , Humanos , Adulto , Angiografía con Fluoresceína/métodos , Tomografía de Coherencia Óptica/métodos , Estudios Transversales , Síndrome de Williams/diagnósticoRESUMEN
PURPOSE OF REVIEW: The current review will discuss the pathophysiology, work-up and clinical relevance of the ocular phenotype in Williams-Beuren syndrome in detail. RECENT FINDINGS: Few case reports, case series and retrospective studies reported the ophthalmic features in Williams-Beuren syndrome, focusing on specific aspects of the ocular involvement. Recently, novel retinal findings have been described in association with the disease. SUMMARY: Numerous ocular features have been described in Williams-Beuren syndrome. Some of them, such as the stellate pattern of the iris or the retinal arteriolar tortuosity may be helpful for the diagnosis but have no significant clinical implications; others, such as strabismus and refractive errors require early treatment to reduce the risk of irreversible visual impairment. Finally, some features, such as a broad foveal pit and thinner retina still have unknown significance and require further longitudinal and multimodal studies.
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Estrabismo , Síndrome de Williams , Humanos , Síndrome de Williams/diagnóstico , Síndrome de Williams/complicaciones , Síndrome de Williams/genética , Estudios Retrospectivos , Retina , IrisRESUMEN
PURPOSE: To describe a case of poppers maculopathy by means of multimodal imaging. METHODS: A 26-year-old male presented to our Department in April 2018 with a history of visual disturbances. He underwent a complete ophthalmologic examination, including optical coherence tomography, fundus autofluorescence, and ultra-widefield fundus photograph. RESULTS: At baseline, the patient presented a visual acuity of 20/25 Snellen bilaterally, with an altered foveal reflex on funduscopic examination. Structural optical coherence tomography showed disruption of the outer retinal layers in both eyes. After 6-month observation, the status of the outer retinal layers on optical coherence tomography and his vision (20/20) appeared improved. In this occasion, we performed optical coherence tomography angiography that revealed clear and persisting choriocapillaris alterations. Upon further interrogation, he admitted the episodic use of poppers, hence leading to the diagnosis. CONCLUSION: Our findings suggest that microvascular toxicity at the level of choriocapillaris may act as primary pathogenetic insult in poppers maculopathy.
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Drogas Ilícitas/efectos adversos , Enfermedades de la Retina/diagnóstico por imagen , Vasos Retinianos/diagnóstico por imagen , Trastornos de la Visión/diagnóstico , Adulto , Técnicas de Diagnóstico Oftalmológico , Angiografía con Fluoresceína , Fóvea Central , Humanos , Masculino , Imagen Multimodal , Oftalmoscopía , Imagen Óptica , Enfermedades de la Retina/inducido químicamente , Vasos Retinianos/efectos de los fármacos , Tomografía de Coherencia Óptica , Trastornos de la Visión/inducido químicamente , Agudeza Visual/fisiologíaRESUMEN
PURPOSE: To describe a complex case of choroidal osteoma complicated by choroidal neovascularisation and focal choroidal excavation and presence of pitchfork sign. METHODS: A young female patient with confirmed diagnosis of choroidal osteoma was followed up for 5 years. Multimodal imaging including optical coherence tomography and fluorescein angiography (Spectralis HRA + OCT; Heidelberg Engineering, Heidelberg, Germany) was performed. RESULTS: Optical coherence tomography showed the presence of a unilateral choroidal osteoma in the first visit which was later followed by the appearance of focal choroidal excavation. After 3 years, choroidal neovascularisation developed in choroidal osteoma area, with subretinal fluid, subretinal hyper-reflective material, hyper-reflective foci and pitchfork sign. Decalcification of the tumour was not noted in this patient. Treatment with one intravitreal injection of Aflibercept resulted in complete disappearance of subretinal fluid, subretinal hyper-reflective material, pitchfork sign and decreased hyper-reflective foci. CONCLUSION: Inflammatory response can be a propulsive element in the development of focal choroidal excavation and choroidal neovascularisation in choroidal osteoma patients.
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Neoplasias Óseas/patología , Neoplasias de la Coroides/patología , Coroides/patología , Neovascularización Coroidal/diagnóstico , Osteoma/patología , Adulto , Inhibidores de la Angiogénesis/uso terapéutico , Neoplasias Óseas/tratamiento farmacológico , Neoplasias de la Coroides/tratamiento farmacológico , Neovascularización Coroidal/tratamiento farmacológico , Colorantes/administración & dosificación , Femenino , Angiografía con Fluoresceína , Humanos , Verde de Indocianina/administración & dosificación , Inyecciones Intravítreas , Imagen Multimodal , Osteoma/tratamiento farmacológico , Receptores de Factores de Crecimiento Endotelial Vascular/uso terapéutico , Proteínas Recombinantes de Fusión/uso terapéutico , Líquido Subretiniano , Tomografía de Coherencia Óptica , Factor A de Crecimiento Endotelial Vascular/antagonistas & inhibidores , Agudeza Visual/fisiologíaRESUMEN
BACKGROUND: The clinical phenotype of Stargardt disease (STGD) can be extremely heterogeneous, with variable macular and peripheral retinal involvement. The study aim was to correlate peripheral ultrawide field (UWF) involvement with macular alterations, as assessed by structural optical coherence tomography (OCT) and OCT angiography (OCTA), in order to identify potentially different phenotypes. METHODS: The study involved patients with STGD and healthy controls. We performed a complete ophthalmologic assessment and multimodal imaging, including OCT, OCTA, fundus autofluorescence and UWF imaging. Patients with STGD were subdivided according to the peripheral involvement. OCT and OCTA quantitative parameters were analysed. The main outcome of the study was the classification of UWF subtypes and the correlation between UWF subtypes and macular involvement. RESULTS: Seventy STGD eyes (19 male; mean age 41.3±13.2 years) and 70 healthy eyes (35 male; 50%; mean age 41.2±9.8 years) were included in the analyses. Mean best-corrected visual acuity was 0.60±0.45 LogMAR for the STGD group and 0.0±0.0 LogMAR for controls (p<0.01). All clinical and imaging findings proved to be statistically worse in patients with STGD than in the control subjects (p<0.01). UWF types were distributed as follows: type I (49%), type II (34%), type III (17%). Type III patients proved to be significantly worse in terms of visual function and OCT and OCTA imaging parameters. CONCLUSIONS: The UWF autofluorescence performed in the present study suggests that there exist three different STGD phenotypes. Each phenotype is associated with variable OCT and OCTA impairment. Further studies providing a better assessment of the peripheral retinal involvement in STGD are warranted.
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Angiografía con Fluoresceína , Mácula Lútea/fisiopatología , Imagen Óptica , Enfermedad de Stargardt/fisiopatología , Tomografía de Coherencia Óptica , Adulto , Estudios Transversales , Femenino , Humanos , Mácula Lútea/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Imagen Multimodal , Fibras Nerviosas/patología , Proyectos Piloto , Células Ganglionares de la Retina/patología , Microscopía con Lámpara de Hendidura , Enfermedad de Stargardt/diagnóstico por imagen , Agudeza Visual/fisiologíaRESUMEN
PURPOSE: The aim of the present study was to analyze quantitative optical coherence tomography (OCT) and OCT angiography (OCTA) parameters to identify clinically relevant cutoff values able to detect clinically different Stargardt's disease (STGD) subgroups. METHODS: Consecutive STGD patients were recruited and underwent complete ophthalmologic examination, including multimodal imaging. Several quantitative parameters were extracted both from structural OCT and OCTA images and were statistically analyzed. A post hoc analysis was performed to identify a quantitative cutoff able to distinguish two clinically different STGD subgroups. Main outcome measures were total retinal thickness, central macular thickness (CMT), retinal layers thickness, retinal and choroidal hyperreflective foci (HF) number, vessel density (VD), vessel tortuosity (VT), vessel dispersion (Vdisp), and vessel rarefaction (VR) of macular and optic nerve head plexa. RESULTS: Overall, 54 eyes of 54 STGD patients (18 males) and 54 eyes of 54 healthy age- and sex-matched controls were included in the analysis. All quantitative parameters resulted significantly worse in STGD than controls (P < 0.01). Moreover, a VT cutoff of 5 allowed to distinguish the following two categories: a functionally and anatomically better STGD group and a worse group. BCVA resulted 0.42 ± 0.28 logMAR in the best group versus 1.09 ± 0.36 logMAR in the worst (P < 0.01). Structural OCT and OCTA parameters significantly differed between the two STGD groups. CONCLUSIONS: Quantitative OCTA was able to detect different morphofunctional STGD phenotypes. TRANSLATIONAL RELEVANCE: OCTA-based classification of STGD patients detected different patients' subgroups, differing in terms of morphologic and functional features, with a potential impact on clinical and research settings.
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BACKGROUND: To identify different choroidal patterns in Stargardt disease (STGD) and to assess their clinical correlates. METHODS: 100 STGD eyes (29 males; mean age 42.6 ± 16.5 years) and 100 control eyes (29 males; mean age 43.2 ± 8.5 years) were included. Optical coherence tomography (OCT) and OCT angiography (OCTA) images were obtained. Four different choroidal patterns, quantitative OCT and OCTA parameters were assessed and statistically analyzed. The main outcome was the correlation between each choroidal pattern and anatomical and functional retinal status. Furthermore, we assessed structural and best corrected visual acuity (BCVA) changes of each STGD subgroup after one-year. RESULTS: Mean BCVA was 0.63 ± 0.44 LogMAR for STGD patients and 0.0 ± 0.0 LogMAR for controls (p < 0.01). All quantitative parameters appeared deteriorated in STGD compared to controls (p < 0.01). Choroidal patterns were distributed as follows: Pattern 1 (normal appearing choroid) (15%), Pattern 2 (reduced Sattler or Haller layer) (29%), Pattern 3 (reduced Sattler and Haller layers) (26%), Pattern 4 (Pattern 3 + choroidal caverns) (30%). More advanced patterns significantly correlated with a more severe loss of retinal structural integrity. Furthermore, only Pattern 3 and Pattern 4 showed remarkable signs of progression after one year. CONCLUSIONS: Choroidal patterns were related with retinal structural status and BCVA loss, and with different disease progression.