Dataset Information

A novel variant of autosomal recessive best vitelliform macular dystrophy and management of early-onset complications.

ABSTRACT: To report an adult with autosomal recessive Best vitelliform macular dystrophy with a new homozygous BEST1 mutation, the management of a cystoid macular edema with intravitreal aflibercept in the proband, and the findings in the parents, carriers of heterozygous BEST1 mutations. A 28-year-old female presented with blurry andreduced vision in her both eyes with bilateral vitelliform macular lesions. The patient's parents were also examined. Examinations included electrooculogram (EOGs), imaging studies, and BEST1 gene testing. Interventions included treatment with intravitreal aflibercept for both eyes. The patient presented with visual acuity of 20/20 OD 20/30 OS, RPE changes, multifocal subretinal yellowish deposits resembling vitelliform deposits and subretinal fluids. Cystoid macular edema developed after one month, causing vision reduction (20/28 OD 20/30 OS). Visual acuity recovered to 20/20 OU after serial intravitreal aflibercept injections. The proband showed subnormal EOG Arden ratios. Molecular testing showed the homozygous missense variant c.695T>G p. (IIe232Ser) In exon 6 of the BEST1 mutations and to the best of our knowledge, this variant, which was confirmed by conventional Sanger sequencing, has neither been annotated in databases nor been described in the literature so for (Human Genome Molecular Database 2018.1). In the heterozygous parents, EOGs were subnormal, and minimal autofluorescence changes were seen.

Clinical relevance

Prompt recognition and treatment of cystoid macular edema management effectively restore vision. Awareness and recognition of recessive inheritance permit correct diagnosis and counseling.

SUBMITTER: Albuainain A

PROVIDER: S-EPMC8982945 | biostudies-literature | 2021 Apr-Jun

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

A novel variant of autosomal recessive best vitelliform macular dystrophy and management of early-onset complications.

Albuainain Abdulrahman A Alhatlan Hatlan M HM Alkhars Wajeeha W

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society 20210401 2

To report an adult with autosomal recessive Best vitelliform macular dystrophy with a new homozygous BEST1 mutation, the management of a cystoid macular edema with intravitreal aflibercept in the proband, and the findings in the parents, carriers of heterozygous BEST1 mutations. A 28-year-old female presented with blurry andreduced vision in her both eyes with bilateral vitelliform macular lesions. The patient's parents were also examined. Examinations included electrooculogram (EOGs), imaging s ...[more]

PMID: 35391813

Similar Datasets

Project description:Demonstrating the utility of adaptive optics scanning light ophthalmoscopy (AOSLO) to assess outer retinal structure in Best vitelliform macular dystrophy (BVMD).To characterize outer retinal structure in BVMD using spectral-domain optical coherence tomography (SD-OCT) and AOSLO.Prospective, observational case series. Four symptomatic members of a family with BVMD with known BEST1 mutation were recruited at the Advanced Ocular Imaging Program research lab at the Medical College of Wisconsin Eye Institute, Milwaukee.Thickness of 2 outer retinal layers corresponding to photoreceptor inner and outer segments was measured using SD-OCT. Photoreceptor mosaic AOSLO images within and around visible lesions were obtained, and cone density was assessed in 2 subjects.Photoreceptor structure.Each subject was at a different stage of BVMD, with photoreceptor disruption evident by AOSLO at all stages. When comparing SD-OCT and AOSLO images from the same location, AOSLO images allowed for direct assessment of photoreceptor structure. A variable degree of retained photoreceptors was seen within all lesions. The photoreceptor mosaic immediately adjacent to visible lesions appeared contiguous and was of normal density. Fine hyperreflective structures were visualized by AOSLO, and their anatomical orientation and size were consistent with Henle fibers.AND RELEVANCE: The AOSLO findings indicate that substantial photoreceptor structure persists within active lesions, accounting for good visual acuity in these patients. Despite previous reports of diffuse photoreceptor outer segment abnormalities in BVMD, our data reveal normal photoreceptor structure in areas adjacent to clinical lesions. This study demonstrates the utility of AOSLO for understanding the spectrum of cellular changes that occur in inherited degenerations such as BVMD. Photoreceptors are often significantly affected at various stages of inherited degenerations, and these changes may not be readily apparent with current clinical imaging instrumentation.

Project description:PurposeTo analyze fixation location and stability in best vitelliform macular dystrophy (BVMD) and test their association with best-corrected visual acuity (BCVA).DesignObservational, cross-sectional study.ParticipantsThirty patients (55 eyes) affected by genetically confirmed BVMD were followed up at the Retinal Heredodystrophies Unit of IRCCS San Raffaele Scientific Institute, Milan.MethodsPatients underwent testing with macular integrity assessment (MAIA) microperimeter. Fixation location was measured as distance in degrees (°) between preferred retinal locus (PRL) and estimated fovea location (EFL); fixation was defined as eccentric when the distance between PRL and EFL exceeded 2°. Fixation stability was graded as stable, relatively unstable, or unstable and expressed as bivariate contour ellipse area (BCEA, °2).Main outcome measuresFixation location and stability.ResultsThe median distance of the PRL from the anatomic fovea was 0.7°, and fixation location was eccentric in 27% of eyes. Fixation was graded as stable in 64% of eyes, relatively unstable in 13%, and unstable in 24%, with a median 95% BCEA of 6.2°2. The atrophic/fibrotic stage was associated with worse fixation parameters (all P < 0.01). Both PRL eccentricity and fixation stability were linearly associated with BCVA: every 1° increase in PRL eccentricity was associated with a 0.07 logarithm of the minimum angle of resolution (logMAR) worse BCVA (P < 0.0001) while every 1°2 increase in 95% BCEA was associated with a 0.01 logMAR worse BCVA (P < 0.001). No significant intereye correlation was found for PRL eccentricity and fixation stability, as well as no association between the patient's age and fixation parameters.ConclusionsWe demonstrated that most eyes affected by BVMD retain a central stable fixation and provided evidence that both fixation eccentricity and stability are strongly associated with visual acuity in BVMD. These parameters may serve as secondary end points for future clinical trials.Financial disclosuresProprietary or commercial disclosure may be found after the references.

Dataset Information

A novel variant of autosomal recessive best vitelliform macular dystrophy and management of early-onset complications.

Clinical relevance

Publications

A novel variant of autosomal recessive best vitelliform macular dystrophy and management of early-onset complications.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets