Vitelliform maculopathy: Diverse etiologies originating from one common pathway.

Vitelliform lesions (VLs) are associated with a wide array of macular disorders but are the result of one common pathway: retinal pigment epithelium (RPE) impairment and phagocytic dysfunction. VLs are defined by the accumulation of yellowish subretinal material. In the era of multimodal advanced retinal imaging, VLs can be further characterized by subretinal hyperreflectivity with optical coherence tomography and hyperautofluorescence with fundus autofluorescence. VLs can be the result of genetic or acquired retinal diseases. In younger patients, VLs usually occur in the setting of Best disease. Additional genetic causes of VL include pattern dystrophy or adult-onset vitelliform macular dystrophy. In older patients, acquired VLs can be associated with a broad spectrum of etiologies, including tractional, paraneoplastic, toxic, and degenerative disorders. The main cause of visual morbidity in eyes with VLs is the onset of macular atrophy and macular neovascularization. Histopathological studies have provided new insights into the location, nature, and lifecycle of the vitelliform material comprised of melanosomes, lipofuscin, melanolipofuscin, and outer segment debris located between the RPE and photoreceptor layer. Impaired phagocytosis by the RPE cells is the unifying pathway leading to VL development. We discuss and summarize the nature, pathogenesis, multimodal imaging characteristics, etiologies, and natural course of vitelliform maculopathies.

Investigating the role of BEST1 and PRPH2 variants in the molecular aetiology of adult-onset vitelliform macular dystrophies.

Objective: To determine the clinical relevance and frequency of BEST1 and PRPH2 mutations in a clinically diagnosed adult-onset vitelliform macular dystrophy (AVMD) group with Caucasian ethnicity. Methods: The study comprised 24 patients who had been diagnosed with AVMD via indirect fundus ophthalmoscopy and presented with a dome-shaped appearance between the retinal pigment epithelium and photoreceptors on their spectral-domain optical coherence tomography. They had lesion hyper- autofluorescence on their fundus autofluorescence images and were also investigated for BEST1 and PRPH2 mutations for a probable molecular aetiology. Results: No pathogenic or likely pathogenic mutation was detected in the BEST1 and PRPH2 genes of any of the clinically diagnosed AVDM patients. A heterozygous NM_000322.5:c.938C>T (p.Pro313Leu) variant of the PRPH2 gene was detected in 2 non-consanguineous patients. According to current guidelines, this variant was classified as a 'variant of uncertain significance'. Conclusion: In conclusion, AVMD is a genotypic and phenotypic heterogeneous disease. The genetic aetiology could not be explained by sequencing BEST1 and PRPH2 genes in the AVMD patients; however, the variant of PRPH2 could be a cause of predisposition relevant to the phenotype.

Intraretinal hyperreflective foci in PXE-related retinopathy with acquired vitelliform lesions: a long-term follow-up.

Purposes: To describe the long-term follow-up of a patient affected by Pseudoxanthoma Elasticum (PXE) and acquired macular vitelliform lesions in both eyes. Material and methods: Case report Results: We reported the 9-year follow-up of a patient affected by PXE. We described the onset and the resolution of the vitelliform macular lesions which lasted 5 years. The vitelliform lesion appeared almost simultaneously in both eyes with an initial increase in size, even though asymmetrical. We detected the intraretinal migration of hyper-reflective foci in both eyes during the follow-up. Choroidal neovascularization (CNV) occurred in her right eye during the follow-up. Visual acuity decreased from 20/20 to 20/32 in left eye; from 20/20 to 20/100 in her right eye. Conclusions: we reported the natural history of acquired vitelliform lesion in PXE-related retinopathy describing the Intraretinal hyperreflective foci migration.

A CASE OF CONE DYSTROPHY ASSOCIATED WITH CHOROIDAL NEOVASCULARIZATION.

PURPOSE: To report a case of choroidal neovascularization (CNV) in a patient with cone dystrophy (CD). METHODS: Case report. RESULTS: A 20-year-old woman presented with diminished vision in her right eye. Fundus examination showed perifoveal retinal pigment epithelial changes and retinal hemorrhage consistent with subretinal CNV in the right eye, and mild retinal pigment epithelial changes with a dull foveal reflex in the left eye. Optical coherence tomography analysis and fundus fluorescein angiography also confirmed the subfoveal CNV in the right eye. Electroretinography showed decreased amplitudes in photopic and 30-Hz flicker tests in both eyes, which confirmed cone dystrophy. A single intravitreal ranibizumab injection resolved the edema and stabilized the CNV during the follow-up of 6 months. CONCLUSION: Cone dystrophy is an inherited ocular disorder characterized by loss of cone photoreceptors. Association of CNV has been reported in patients with fundus flavimaculatus, best dystrophy, gyrate atrophy, choroideremia, retinitis pigmentosa, adult-onset foveomacular vitelliform dystrophy, Sorsby macular dystrophy, Bietti crystalline dystrophy, and myotonic dystrophy-related macular dystrophy. We report a case of a patient with CD in whom CNV developed in one eye and responded to a single ranibizumab injection.

ACQUIRED VITELLIFORM DETACHMENT IN MULTIPLE MYELOMA.

PURPOSE: To report a case of subfoveal acquired vitelliform detachment in a patient with multiple myeloma. METHODS: Case report. RESULTS: A 65-year-old man was referred for treatment of a serous macular detachment considered to be caused from chronic central serous chorioretinopathy or adult pseudovitelliform macular dystrophy. His medical history revealed an untreated multiple myeloma. Systemic chemotherapy was undertaken and resulted in a rapid resolution of the detachment. CONCLUSION: Multiple myeloma may be considered as a possible cause of vitelliform macular detachment.

Atypical presentation of primary intraocular lymphoma.

BACKGROUND: In 2014, Pang et al. reported three cases with vitelliform submaculopathy as a preceding lesion of primary intraocular lymphoma (PIOL). Here, we report a case with an atypical presentation of PIOL who initially presented with vitelliform submaculopathy, vitreous haze and preripheral retinal focus. CASE PRESENTATION: A 73-year-old female initially visited another hospital with a chief complaint of acute reduced vision in the right eye. Funduscopic examination of the right eye showed a yellowish retinal lesion at the fovea with vitreous haze and retinal foci scattered in the peripheral region. Spectral-domain optic coherence tomography (SD-OCT) revealed a hyperreflective subretinal debris above the retinal pigment epithelium (RPE) at the fovea, suggesting vitelliform submaculopathy. Vitrectomy was performed to improve visualization of the retinal lesions and for examination of PIOL. Vitreous cytology was class III and cytokine analysis of vitreous fluid showed increased IL-10 and an IL-10/IL-6 ratio >1, suggesting PIOL. Thereafter, there was a sub-RPE infiltration of presumed lymphoma in the nasal retina, and PCR analysis of anterior chamber fluid indicated IgH gene rearrangement, leading to diagnosis of PIOL. Three months later, there was complete disappearance of the vitelliform submacular lesion, with resultant disruption and thinning of the outer retinal layers on SD-OCT images. CONCLUSIONS: Clinicians should be aware of atypical manifestations of PIOL such as vitelliform submaculopathy and peripheral retinal foci with vitreous haze. The patient's unusual funduscopic changes are findings that have not reported in patients with PIOL.

A case of acute exudative polymorphous vitelliform maculopathy: follow-up and wide-field spectral-domain optical coherence tomography.

PURPOSE: To present a case of an HIV-positive patient with acute exudative polymorphous vitelliform maculopathy (AEPVM) and evaluate the presence of specific spectral-domain optical coherence tomography (SD-OCT) findings. METHODS: Case report. RESULTS: We reviewed the AEPVM cases reported in the literature and compared those to our patient to determine if there is a correspondence between the etiology that leads to the onset of AEPVM and clinical and SD-OCT findings. CONCLUSIONS: Acute exudative polymorphous vitelliform maculopathy is a disease that involves the outer retinal layers with lipofuscin deposits and serous detachment of the neuroepithelium with or without intraretinal cysts. Not much is known about the etiology and pathogenesis, and not many cases have been described. A review of the few clinical cases reported in the literature does not show a specific correspondence between etiology and SD-OCT findings.

Clinical findings of acquired vitelliform lesions associated with retinal pigment epithelial detachments.

PURPOSE: To study clinical findings associated with acquired vitelliform lesions in retinal pigment epithelial detachments (PEDs). DESIGN: Retrospective, interventional, consecutive case series. METHODS: We retrospectively reviewed 32 eyes of 24 patients (22 men, 2 women; age range [mean], 58-85 [73.7] years) with acquired vitelliform lesions. RESULTS: All eyes had acquired vitelliform lesions in the central macula associated with a serous PED at baseline. Of the 32 eyes, 30 (93.8%) were observed for 12 months, 26 (81.3%) for 24 months, and 17 (53.1%) for 36 months. The mean logarithm of the minimal angle of resolution best-corrected visual acuity (BCVA) levels were 0.19 at month 12, 0.28 at month 24, and 0.25 at month 36, none of which differed significantly from baseline. The mean changes in the BCVA were declines of 0.38, 1.29, and 1.21 lines at months 12, 24, and 36, respectively. Of 7 eyes treated with 3 consecutive monthly intravitreal injections of ranibizumab, the serous PEDs remained in all 7 eyes and the mean changes of BCVA were a decline of 2.40 lines 12 months after the first injection and a decline of 3.58 lines at the final visit. In the 24 untreated eyes, the mean change in the BCVA was a decline of 0.25 line at the final visit, which differed significantly (P = .021) compared with that of the treated eyes at the final visit. CONCLUSION: Intravitreal injections of ranibizumab were ineffective because of the absence of resolution of the PEDs and the declines in VA.

Electrooculogram (EOG) findings in a case of acute exudative polymorphous vitelliform maculopathy (AEPVM) detected following trauma.

PURPOSE: The purpose of this study was to monitor a case of acute exudative polymorphous vitelliform maculopathy detected following trauma. METHODS: Clinical examination included fundus photographs, optical coherence tomography (OCT) and fluorescein angiography. Pattern and full-field electroretinograms (PERG; ERG) and serial electrooculograms (EOG) were performed, incorporating the international standards. RESULTS: A 45-year-old Caucasian woman developed blurring of vision in both eyes 5 days after a serious road traffic accident. On examination, bilateral serous macular detachments and multiple small yellow subretinal lesions were observed in both eyes associated with areas of serous retinal detachment superior and inferior to the yellow lesions in the left eye. OCT showed retinal elevation with a band of high reflectance on the outer retina but no intra-retinal fluid or elevation of the retinal pigment epithelium (RPE). There was bilateral EOG reduction in keeping with generalised RPE dysfunction and pattern ERG evidence of left macular involvement. After 9 months, the patient reported spontaneous improvement in vision with gravitational settling and coalescence of the subretinal yellow deposits. At 37 months, there was improvement in the EOG and visual acuity. CONCLUSIONS: A rare case of AEPVM is described that was detected following trauma and which gradually improved over 37 months. The EOG showed evidence of generalised RPE dysfunction that resolved and may be useful in the monitoring of AEPVM.