This narrative review aims to explore the correlation between choroidal thickness (CT), broader choroidal changes, and the development and progression of vitelliform lesions, with a focus on their potential modulatory role-whether primary or secondary- through mechanisms involving choriocapillaris (CC) and retinal pigment epithelium (RPE) dysfunction. CT was found to be significantly increased in various vitelliform maculopathies, including adult-onset foveomacular vitelliform dystrophy (AOFVD), Best disease, autosomal recessive bestrophinopathy, age-related macular degeneration (AMD), and pachychoroid disease spectrum (PDS) disorders. Notably, increased subfoveal CT was associated with the presence and progression of subretinal hyperreflective material and subretinal fluid in AOFVD and Best disease. In PDS disorders, choroidal thickening, pachyvessels, and choroidal vascular hyperpermeability were identified as key contributors to RPE dysfunction and vitelliform lesion formation. Conversely, leptovitelliform maculopathy was characterised by thinner choroid in association with reticular pseudodrusen or subretinal drusenoid deposits. An important feature is CC dysfunction, which is often associated with pachyvessels, even in the absence of a clear pachychoroid-related phenotype or choroidal thickening. These findings underscore the importance of CT evaluation in clinical practice and highlight the need for further research to elucidate the complex relationship between CT and vitelliform maculopathies.

To characterize acquired vitelliform lesions associated with leptochoroid (i.e., diffuse choroidal thinning) and reticular pseudodrusen (RPD) and compare this phenotype to the acquired vitelliform lesion (AVL) in the dystrophic spectrum. This retrospective, observational case-control study enrolled 56 patients (56 eyes) affected by vitelliform lesions (AVL), including 27 patients with AVL associated with RPD and leptochoroid (i.e., choroidal thinning) referred to as LeptoVitelliform Maculopathy (LVM), and 29 AVL patients without other funduscopic abnormalities. The main structural features analysed were the integrity of the external limiting membrane (ELM), ellipsoid zone (EZ), and retinal pigment epithelium (RPE), the presence of hyporeflective spaces, and hypertransmission. Choroidal vascular index (CVI) was calculated using ImageJ software. Patients with LVM were 6.69 years older and presented smaller vitelliform lesions considering both vertical (P < 0.001) and horizontal diameters (P < 0.001) with a similar visual impairment compared to the AVL group (P = 0.27). The LVM subgroup showed a greater alteration of the ELM (p < 0.001) and choroidal hypertransmission (i = 0.007), accompanied by less frequent RPE bumps (P = 0.001) and hyporeflective spaces within the vitelliform material (P = 0.002). Furthermore, the LVM group presented a lower CVI with a significant attenuation on both the luminal and stromal compartments compared to AVL (P < 0.001, both). The phenotypic combination of subretinal vitelliform lesion and RPD may delineate a distinct phenotype that shares with AVL only the presence of vitelliform material and a similar visual deterioration. The presented findings of LVM highlight significant structural and microvascular alterations that may hold prognostic relevance, warranting future longitudinal studies. Retinal pattern dystrophies are a slowly progressive heterogeneous group of primarily autosomal dominantly inherited macular diseases whose unifying element involves the deposition of pigment in the retinal pigment epithelium (RPE) of the macula.  Although findings are classically and most often centered in the macula, pigment deposition may also occur in the periphery. Depending on the distribution pattern, these pattern dystrophies can be separated into major categories or types. These include reticular dystrophy, fundus pulverulentus, butterfly-shaped pigment dystrophy, adult-onset foveomacular vitelliform dystrophy, and multifocal pattern dystrophy simulating Stargardt disease. Interestingly, within a patient, a given pattern may transform into another pattern. Each eye may have distinct patterns, and the same familial mutation can correspond to different phenotypic patterns.  Visual prognosis is typically good in these patients, but due to the location of the pigment deposition in the macula and its slowly progressive nature, there is always the possibility of central vision loss and secondary complications such as choroidal neovascularization and macular holes. Patients typically remain asymptomatic until the fourth to fifth decade of life, when they may start to notice changes in central vision. The appearance of pattern dystrophies may lead to misdiagnosis as age-related macular degeneration (AMD), especially given that later stages of pattern dystrophies may resemble AMD and pigment deposits can resemble drusen. Distinguishing pattern dystrophies from AMD requires further workup and follow-up.

The purpose of this publication is to present an extremely rare case of Sjögren's pigment epithelial reticular dystrophy. So far, 10 such publications have been found in world literature. A 16-year-old boy was diagnosed due to a slight loss of visual acuity, confirmed in static perimetry/24-2/. Abnormal dense clusters of retinal pigment epithelium (RPE) cells forming a reticular network pattern (resembling a fishing net) with marked knots were detected by fundoscopy in the macular area and the mid-periphery of the retina. No abnormalities were found in the anterior segment, intraocular pressure, kinetic perimetry, Ishihara or Farnsworth D-15 tests or OCT. Fluorescein angiography confirmed blocked fluorescence from the choroidal vessels caused by the pigment in RPE. An autofluorescence test showed hypofluorescent foci corresponding to symmetrical and bilateral retinal hyperpigmentation with an RPE reticular pattern. Multifocal ERG (mfERG) revealed slight cone photoreceptor and bipolar bioelectrical dysfunction. Electrooculography (EOG) showed significant asymmetry (Arden Ratio 1.8), suggesting bioelectrical dysfunction of RPE/photoreceptors. Flash ERG (ERG) revealed only slight increase in implicit time of the a and b waves of the rod and cone responses and exclude cone-rod dystrophies. This article highlights the importance of the results of ophthalmoscopy, fluorescein angiography, autofluorescence, mfERG, fERG, EOG and genetic tests for Sjögren's reticular dystrophy with a pathogenic variant in the region of the C2 gene-c.841_849+19del (dbSNP rs9332736).

The purpose of the study is to evaluate retinal involvement in a cohort of patients affected by Myotonic Dystrophy type 1 (DM1). Both eyes of 30 patients and one eye of a 31st patient with genetically proven diagnosis of DM1 and both eyes of 20 healthy age- and gender-matched subjects were enrolled. All patients underwent complete ophthalmologic examination including best-corrected visual acuity, intraocular pressure measurement, fundoscopy, fundus autofluorescence, infrared imaging and spectral-domain optical coherence tomography with central macular thickness measurement. DM1 patients showed statistically significant higher central macular thickness values than controls. In the DM1 group, butterfly (14.8%) and reticular (13.1%) pigment abnormalities were found with corresponding drusenoid deposit and focal disruption of photoreceptor and retinal pigment epithelium layers. Compared with the controls, DM1 group had higher prevalence of epiretinal membrane. In the DM1 group, the prevalence of epiretinal membrane and retinal pigment epithelium alterations were directly correlated with age, whereas no correlation was found with disease duration, CTG expansion and MIRS score. In conclusion, in addition to the typical retinal pigment epithelium changes, DM1 is also associated with abnormalities of the vitreoretinal interface, particularly epiretinal membrane, resulting in central macular thickness increase. Both inner and outer retinal alterations were associated with increasing age, suggesting that DM1 may cause a premature aging of the retina.

To analyze an unusual case of widespread chorioretinopathy after cardiac transplantation for its potential etiology and clinical significance. Clinical examinations included widefield and macular color and fundus autofluorescence photography, spectral domain optical coherence tomography, fluorescein angiography and indocyanine green angiography, full-field electroretinography, and Goldmann visual fields. A 44-year-old Hispanic woman was referred to rule out retinitis pigmentosa. Medical history revealed cardiac transplantation 6 months previously for idiopathic cardiomyopathy. Visual acuity was 20/20 in both eyes. The fundi showed widespread gray mottling and little pigmentation, but fundus autofluorescence revealed black speckling broadly across the fundus, and geographic retinal pigment epithelium loss in the nasal midperiphery of the left eye. Spectral domain optical coherence tomography showed normal inner retina, and surprising preservation of outer nuclear layer, but the ellipsoid zone line was fragmented, and the interdigitation zone line was replaced with irregular debris. Retinal pigment epithelium was very thin with occasional excrescences. Electroretinography showed mild loss of both rods and cones, with mild flicker peak delay only in the left eye. Fluorescein angiography showed no leakage, but a reticular pigment pattern in the macula. Indocyanine green angiography showed irregular arteriolar remodeling, and few large arteries. Serous retinopathy is well known after organ transplantations, but this patient had retinal pigment epithelium and retinal damage well into the periphery and no leakage. Retinal dystrophy was deemed unlikely given the relatively good electroretinography. The indocyanine green vascular changes raise the possibility of a transient choroidal ischemic event during or shortly after cardiac surgery. The event altered retinal pigment epithelium diffusely, but allowed for enough regeneration to sustain retinal function. Diffuse transplant chorioretinopathy may be discovered if postcardiac transplant patients get peripheral retinal examinations.