Adult-onset Foveomacular Dystrophy Research Articles

Acquired vitelliform lesion: A lesser diagnosed entity

We report a case of 56-year-old female patient who came to our retina department with diminution of vision in both eyes (BE) for three years. She was treated with anti-vascular growth factor injections in BE for choroidal neovascular membrane (CNVM) at another medical facility three months back. Her best corrected visual acuity (BCVA) was 6/24, N18, and 6/9, N8 in the right and left eyes, respectively. Fundus showed vitelliform lesions and subretinal deposits in BE. We could not find any evidence of CNVM on optical coherence tomography (OCT) angiography. We made a provisional diagnosis of adult-onset foveomacular dystrophy (AOFVD). After the literature review and investigations, we made a clinical diagnosis of acquired vitelliform lesion (AVL). The lesion is usually located between the retinal pigment epithelium and photoreceptors, which may occur as an isolated entity or in conjunction with other comorbidities. Hence, it is very important to differentiate AVL from CNVM to avoid unnecessary treatment.

Adult-onset foveomacular vitelliform dystrophy: epidemiology, pathophysiology, imaging, and prognosis.

Adult-onset foveomacular dystrophy (AOFVD) is a retinal pattern dystrophy that may affect up to 1 in 7,400 individuals. There is much that is unknown regarding this disease's epidemiology, risk factors for development, and rate of progression through its four stages. Advancements in retinal imaging over the past 15 years have enabled improved characterization of the different stages of AOFVD. These imaging advancements also offer new ways of differentiating AOFVD from phenotypically similar retinal diseases like age-related macular degeneration and Best disease. This review synthesizes the most recent discoveries regarding imaging correlates within AOFVD as well as risk factors for the development of AOFVD, complications of AOFVD, and treatment options. Our aim is to provide ophthalmologists a succinct resource so that they may offer clarity, guidance, and appropriate monitoring and treatments for their patients with suspected AOFVD.

Choroidal neovascularization associated with adult‐onset vitelliform dystrophy treated with intravitreal ranibizumab

Abstract Purpose Adult‐onset foveomacular dystrophy (AFVD) is a hereditary ocular condition, which results in the presence of slightly elevated and yellowish subretinal macular lesions, similar to those of Best’s disease, but smaller than these. Usually, these patients have a fair visual prognosis if there are no complications in the clinical course of the disease. We report a case describing a patient affected with occult choroidal neovascularization (CNV) associated with AFVD, who underwent treatment with intravitreal ranibizumab. Methods Prospective, interventional, single case report. A 70‐year‐old male patient diagnosed with bilateral adult‐onset vitelliform dystrophy, presents a sudden decrease of vision in his left eye (LE) associated with a subretinal haemorrhage and serous detachment in the macular area, on fundus examination. Fluorescein angiography in the LE confirmed the presence of an occult choroidal neovascular membrane. Intravitreal ranibizumab was performed because of the juxtafoveal localization of the CNV. Results Two consecutive injections were needed to induce total regression of the lesion. Six months after the last injection, visual acuity remained stable at 7/10 with no recurrence as evaluated by fundus biomicroscopy and optical coherence tomography (OCT). Conclusion Intravitreal ranibizumab has shown a satisfactory morphological and functional improvement in this case of CNV associated with adult‐onset vitelliform dystrophy. Further case series are required to confirm this observation.

A novel RDS/peripherin gene mutation associated with diverse macular phenotypes

Pattern dystrophy is a heterogeneous group of retinal dystrophies of which butterfly-shaped pattern dystrophy (BPD) and adult-onset foveomacular dystrophy (AOFMD) are the two most common forms. BPD is characterized by a butterfly-shaped, irregular, depigmented lesion at the level of the retinal pigment epithelium. In contrast, AOFMD is characterized by the presence of slightly elevated, symmetric, solitary, round to oval, yellow lesions at the level of the retinal pigment epithelium. We identified three independent kindreds with pattern dystrophy, one with four patients affected with BPD and the other two with 14 affected patients with AOFMD. We performed complete ophthalmic examination, fluorescein angiography, linkage mapping, and mutational screening in the RDS/peripheringene in the affected patients. Patients affected with BPD had a best-corrected vision of 20/20 to 20/25, whereas vision in the eyes of patients with AOFMD ranged from 20/20 to 20/400. In all three kindreds, sequence analysis identified an A-to-G change at nucleotide position 422 of the RDS/peripheringene, predicting a novel Tyr-141-Cys substitution. A haplotype analysis revealed that these three kindreds shared an identical disease haplotype at the RDS/peripherinlocus, indicating that the mutation reflects a founder effect. The sequence change that segregated with the disease phenotype was not observed in 200 control chromosomes. Our results identified a novel mutation in the RDS/peripheringene that can cause diverse macular phenotypes. Genetic and clinical investigation of pattern dystrophy may provide useful diagnostic tools and new treatment strategies for this disorder.

A novel mutation in the RDS/Peripherin gene causes adult-onset foveomacular dystrophy

Purpose To describe a novel mutation in the RDS/Peripherin gene that results in a moderately severe form of adult-onset foveomacular dystrophy. Design Observational case series. Methods Selected members of a family with adult-onset foveomacular dystrophy underwent complete ophthalmic evaluation, including fundus photography and fluorescein angiography, in a tertiary care referral center. The study population consisted of 12 members of a Caucasian kindred. After providing informed consent, patients donated blood for genomic DNA extraction and mutational screening using standard techniques. The main outcome measure were the presence of a RDS/Peripherin gene mutation in a patient with the disease and its absence in unaffected family members and controls. Results Eight affected family members and no unaffected family members demonstrated a single guanine base deletion at nucleotide 112 that led to premature termination at amino acid 38 of RDS/Peripherin polypeptide. This frameshift mutation results in truncation of nearly 90% of the gene product, thus probably representing a null allele. That results in a relatively severe phenotype, with choroidal neovascularization developing in two patients and geographic atrophy involving the macula in three patients. Conclusions We describe a frameshift null mutation in the RDS/Peripherin gene associated with a relatively severe manifestation of adult-onset foveomacular dystrophy in affected family members.

Adult-Onset Foveomacular Pigment Epithelial Dystrophy

Thirty-three pateints had adult-onset foveomacular dystrophy. The macular lesions typically resulted in a mild to moderate decrease in vision and appeared as small, yellow, bilateral, slightly elevated, pigment epithelial lesions with areas of hyperpigmentation. The characteristic finding on fluorescein angiography was a ring of hyperfluorescence surrounding an area of hypofluorescence. The electro-oculograms were either normal or slightly subnormal in most cases. This dystrophy appears to have an autosomal dominant transmission.