BEST1 VARIANT ASSOCIATED WITH AN ATYPICAL MACULAR AND PERIPHERAL RETINAL PHENOTYPE.

Purpose: Best vitelliform macular dystrophy is an inherited macular dystrophy associated with over 250 pathogenic variants of the Bestrophin-1 ( BEST1 ) gene. Although several types of lesions of best vitelliform macular dystrophy are well-described, reports of phenotypic variations associated with rare genetic variants are limited.

Methods: This was a retrospective case series performed in 2021 at a tertiary eye care center.

A novel ocular phenotype associated with pathogenic variants in leading to macular dystrophy.

Background: The major facilitator superfamily domain-containing protein 8 (MFSD8) pathogenic variants are classically associated with autosomal recessive neuronal ceroid lipofuscinosis-7. Case reports have recently demonstrated an association of MFSD8 variants causing autosomal recessive macular dystrophy with central cone involvement without neurologic sequelae. We report a patient with a novel ocular phenotype associated with MFSD8 pathogenic variants causing macular dystrophy without systemic findings.

TOPICAL CARBONIC ANHYDRASE INHIBITORS IN THE LONG-TERM TREATMENT OF JUVENILE X-LINKED RETINOSCHISIS.

Purpose: To describe the response to long-term topical dorzolamide treatment in patients with juvenile X-linked retinoschisis and cystic-like foveal lesions.

Methods: This was a retrospective interventional case series that included 18 eyes of 10 patients with genetically confirmed juvenile X-linked retinoschisis examined at the Cleveland Clinic Cole Eye Institute, a tertiary referral center, between 2005 and 2021. Patients were treated with topical 2% dorzolamide two to three times daily in both eyes.

related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases.

Purpose: To report on two rare and one novel pathogenic variants in two patients associated with a previously uncharacterized phenotype of retinal degeneration.

Methods: Case report.

Results: A 4 year-old and a 19 year-old female presented with reduced vision and bilateral bull's eye maculopathy.

Germ Line Mutation in Patients with Uveal Melanoma and Renal Cell Carcinoma.

Uveal melanoma (UM) and renal cell carcinoma (RCC) can occur sporadically and as a manifestation of tumor predisposition syndrome. We aimed to understand the prevalence of germ line pathogenic variants in patients with UM and RCC. We reviewed patients managed at Cleveland Clinic between November 2003 and November 2019 who were diagnosed with UM and RCC.

Retinoblastoma in twins: Risk assessment of genotypic variants.

Purpose: To describe methods of risk assessment in twins with retinoblastoma (RB).

Methods: A case series of four RB probands with a twin sibling. Family status, clinical presentation, and RB1 germline status-based risk assessment were analyzed.

Evidence of complement dysregulation in outer retina of Stargardt disease donor eyes.

Stargardt macular degeneration (STGD) is a central blinding disease caused by loss of or dysfunctional ABCA4 transporter in both photoreceptors and retinal pigment epithelial (RPE) cells. Toxic bisretinoid-lipofuscin buildup in the RPE cells is a pathological hallmark of STGD patients and its mouse model, the Abca4. These vitamin A-derived fluorophores have been shown to induce oxidative stress, stimulate complement activity, and cause chronic inflammation of the RPE.

Cellular Changes in Retinas From Patients With Mutations.

Best disease (BD), also known as vitelliform macular dystrophy, is an inherited disease of the central retina caused by more than 300 pathogenic variants in the gene. The phenotype of BD is variable, and there are just a few reports on the histopathology of eyes from donors with BD. Here, we describe the histopathological comparison of donor's eyes from two patients with BD.

An Online Application for Retinoblastoma Surveillance.

Background: Retinoblastoma (RB) is a potentially heritable childhood cancer that is vision- and life-threatening. Assessing the risk of inheriting RB is important for structuring ophthalmic and genetic screening of family members.

Purpose: To create a free online application that integrates phenotypic, genetic, and familial relationships with clinical best practice surveillance guidelines for families with RB.

Inherited retinal degeneration current genetics practices - a needs assessment.

Background: Clinical assessment of patients with IRD often includes thorough documentation of medical and ocular history in addition to genetics related practices like assessing the family history and genetic testing. Previous studies have demonstrated the genetic counseling needs of IRD patients are not being fully met, but there is a lack of literature showing the current genetics practices of ophthalmologists and optometrists in the U.S.

A novel mutation associated with a retinitis pigmentosa-like phenotype.

Background: Sorsby Fundus Dystrophy is an inherited macular degeneration caused by pathogenic variants in the gene. Clinical exam findings typically drusen -like deposits beneath the RPE or reticular pseudo drusen deposits above the RPE with a majority of patients developing choroidal neovascularization.

Materials And Methods: Case report of two members of a family that present with atypical clinical exam findings.

Hickam's Dictum: Pseudoxanthoma elasticum and Usher syndrome in a single patient.

Background: To report the case of a patient with two distinct genetic systemic diseases - pseudoxanthoma elasticum (PXE) and Usher syndrome - confirmed by genetic testing.

Materials And Methods: Single Retrospective Case Report.

Results: A 36-year-old woman presented with acute central vision loss of the left eye (OS).

Towards safe operation of an active retinal prosthesis during functional MRI and diffusion tensor imaging.

Objective: To determine if the Argus II retinal prosthesis can operate during functional MRI (fMRI) and diffusion tensor imaging (DTI) acquisitions and if currents induced in the prosthesis by imaging are at safe levels.

Materials And Methods: One Argus II retinal prosthesis was modified to enable current measurements during imaging. Active electronics were modified to enable operation during scans.

Investigation of CEP290 genotype-phenotype correlations in a patient with retinitis pigmentosa, infertility, end-stage renal disease, and a novel mutation.

: Mutations in cause autosomal recessive conditions with a wide range of severity and the lack of strong genotype-phenotype data makes it difficult to provide accurate prognostic data to patients and families.: A retrospective chart review was conducted on a patient with a clinical diagnosis of Senior-Loken Syndrome, molecularly confirmed biallelic nonsense mutations in ,and a recent finding of infertility secondary to non-motile sperm.: Here we present the case of a patient with a long-standing diagnosis of Senior-Loken syndrome due to findings of early-onset retinitis pigmentosa and renal disease.

Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma.

Purpose: To identify susceptibility genes associated with hereditary predisposition to uveal melanoma (UM) in patients with no detectable germline BAP1 alterations.

Design: Retrospective case series from academic referral centers.

Participants: Cohort of 154 UM patients with high risk of hereditary cancer defined as patients with 1 or more of the following: (1) familial UM, (2) young age (<35 years) at diagnosis, (3) personal history of other primary cancers, and (4) family history of 2 or more primary cancers with no detectable mutation or deletion in BAP1 gene.

Novel mutation in causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature.

: Neonatal retinal folds and/or vitreoretinal traction can be signs of isolated ocular or syndromic disorders. Etiologies include retinopathy of prematurity, perinatal infections or inherited vitreoretinal disorders such as familial exudative vitreoretinopathy (FEVR) or Norrie disease. We present the clinical and genetic findings of a two-month-old infant with microcephaly, mild motor developmental delay, and FEVR, who required urgent surgical interventions.

Computer-Assisted Immersive Visual Rehabilitation in Argus II Retinal Prosthesis Recipients.

Purpose: The field of retinal prostheses is expanding. However, the best approach to training and assessing the functional benefit of postoperative vision has not been established. The purpose of this single-center prospective interventional case series was to evaluate the feasibility and effectiveness of using the Computer Assisted Rehabilitation Environment (CAREN) system as a visual rehabilitation tool in Argus II patients.

Sector retinitis pigmentosa: Report of ten cases and a review of the literature.

Purpose: To describe the genotypes and phenotypes of ten patients with sector retinitis pigmentosa (RP). We also review previously reported mutations associated with sector RP and provide a discussion of possible underlying pathophysiological mechanisms.

Methods: Patients underwent detailed ophthalmologic examinations, fundus photography, fundus autofluorescence (FAF) imaging, spectral-domain optical coherence tomography (SD-OCT), as well as visual field and electroretinographic testing.

Correlation between Argus II array-retina distance and electrical thresholds of stimulation is improved by measuring the entire array.

Purpose: To describe two methods of measuring Argus II array-retina distance and to correlate array-retina distance to electrode stimulation thresholds.

Methods: This was a case series of eight patients implanted with the Argus II. Spectral domain-optical coherence tomography array-retina distance was measured by two methods and correlated to corresponding electrode thresholds: (1) array-retina distance at each array corner and the largest array-retina distance and (2) using manual optical coherence tomography segmentation, the average array-retina distance was determined for each group of four electrodes.

Retinal dystrophy associated with a Kizuna () mutation and a predominantly macular phenotype.

: Mutations in Kizuna (, a gene involved in ciliary function, have been previously associated with rod-cone dystrophy with relative macular sparing and a number of other systemic abnormalities.: We present a patient with a phenotype dominated by retinal dystrophy and macular cysts as a result of a homozygous nonsense mutation in : A 32-year-old female of Ashkenazi Jewish ancestry presented with progressive central vision loss and peripheral visual field loss following decades of night-blindness. She was noted to have a bull's-eye pattern of macular hyper-autofluorescence, intraretinal cystoid macular changes and outer retinal atrophy in both eyes.

Prediction of long-term patient outcome after contemporary left main stenting using the SYNTAX and SYNTAX II scores: A comparative analysis from the FAIL-II multicenter registry (failure in left main study with 2nd generation stents-Cardiogroup III study).

Aims: To establish the value of the SYNTAX Score-II (SS-II) in predicting long-term mortality of patients treated with left main PCI (LM-PCI) using second-generation drug-eluting stents (DES).

Methods And Results: The SYNTAX score (SS) and the SS-II were calculated in 804 patients included in the FAILS-2 registry (failure in left main study with 2nd generation stents). Patients were classified in low (SS-II ≤33; n = 278, 34.

A novel dominant CRX mutation causes adult-onset macular dystrophy.

Background: To present the ophthalmological findings of a mother and son initially diagnosed with benign concentric annular macular dystrophy (BCAMD) and later discovered to carry a novel nonsense mutation in the cone-rod homeobox (CRX) gene (19q13.3).

Materials And Methods: Patients received ophthalmic examinations and diagnostic testing.