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.

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.

BackgroundThe 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.MethodsThe 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.ResultsSeventy 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.ConclusionsThe 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.