Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.

The AGBL5 gene encodes for the Cytoplasmic Carboxypeptidase 5 (CCP5), an α-tubulin deglutamylase that cleaves the γ-carboxyl-linked branching point of glutamylated tubulin. To date, pathogenic variants in AGBL5 have been associated only with isolated retinitis pigmentosa (RP). Hearing loss has not been reported in AGBL5-caused retinal disease.

TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.

Retinitis pigmentosa (RP) is the most common inherited retinal disease (IRD) and is characterized by photoreceptor degeneration and progressive vision loss. We report 4 patients presenting with RP from 3 unrelated families with variants in TBC1D32, which to date has never been associated with an IRD. To validate TBC1D32 as a putative RP causative gene, we combined Xenopus in vivo approaches and human induced pluripotent stem cell-derived (iPSC-derived) retinal models.

Multimodal imaging for detecting metamorphopsia after successful retinal detachment repair.

Purpose: To investigate the etiologies of metamorphopsia after successful retinal detachment repair.

Methods: In this retrospective study, we included patients who underwent pars plana vitrectomy (PPV) for macula-off rhegmatogenous retinal detachment (RRD). Patients were reviewed after 3 to 6 weeks.

Combined pars plana vitrectomy with phacoemulsification for rhegmatogenous retinal detachment repair.

Purpose: To investigate the outcome after combined phaco-vitrectomy in rhegmatogenous retinal detachment (RRD) repair.

Patients And Methods: In this retrospective study, we included all patients who underwent pars plana vitrectomy (PPV) for RRD between January 2013 and December 2017. The main outcome measure was the retinal re-detachment rate after combined phaco-vitrectomy.

Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy.

Purpose: Recessive mutations in CLN7/MFSD8 usually cause variant late-infantile onset neuronal ceroid lipofuscinosis (vLINCL), a poorly understood neurodegenerative condition, though mutations may also cause nonsyndromic maculopathy. A series of 12 patients with nonsyndromic retinopathy due to novel CLN7/MFSD8 mutation combinations were investigated in this study.

Methods: Affected patients and their family members were recruited in ophthalmic clinics at each center where they were examined by retinal imaging and detailed electrophysiology.

Emerging therapies for inherited retinal degeneration.

Inherited retinal degenerative diseases, a genetically and phenotypically heterogeneous group of disorders, affect the function of photoreceptor cells and are among the leading causes of blindness. Recent advances in molecular genetics and cell biology are elucidating the pathophysiological mechanisms underlying these disorders and are helping to identify new therapeutic approaches, such as gene therapy, stem cell therapy, and optogenetics. Several of these approaches have entered the clinical phase of development.

FUNDUS AUTOFLUORESCENCE IN A SUBCLINICAL CASE OF BEST DISEASE.

Purpose: To demonstrate the usefulness of fundus autofluorescence for diagnosing a subclinical case of Best disease.

Results: We describe a 27-year-old white woman without central visual symptoms, visual acuity of 20/12 in both eyes, carrying the previously reported p.Tyr227Cys mutation in the BEST1 gene.

Visual Acuity Loss and Associated Risk Factors in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 2).

Purpose: To examine the association between characteristics of Stargardt disease and visual acuity (VA), to estimate the longitudinal rate of VA loss, and to identify risk factors for VA loss.

Design: Retrospective, multicenter cohort study.

Participants: A total of 176 patients (332 eyes) with molecularly and clinically confirmed Stargardt disease enrolled from the United States and Europe.

The Natural History of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Studies: Design and Baseline Characteristics: ProgStar Report No. 1.

Purpose: To describe the design and baseline characteristics of patients enrolled into 2 natural history studies of Stargardt disease (STGD1).

Design: Multicenter retrospective and prospective cohort studies.

Participants: Three hundred sixty-five unique patients aged 6 years and older at baseline harboring disease-causing variants in the ABCA4 gene and with specified ocular lesions were enrolled from 9 centers in the United States and Europe.

NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.

The National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE(®)) was established in an effort to facilitate basic and clinical research of human inherited eye disease. In order to provide high quality genetic testing to eyeGENE(®)'s enrolled patients which potentially aids clinical diagnosis and disease treatment, we carried out a pilot study and performed Next-generation sequencing (NGS) based molecular diagnosis for 105 Retinitis Pigmentosa (RP) patients randomly selected from the network. A custom capture panel was designed, which incorporated 195 known retinal disease genes, including 61 known RP genes.

Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT).

Unlabelled: Restoring vision in inherited retinal degenerations remains an unmet medical need. In mice exhibiting a genetically engineered block of the visual cycle, vision was recently successfully restored by oral administration of 9-cis-retinyl acetate (QLT091001). Safety and visual outcomes of a once-daily oral dose of 40 mg/m2/day QLT091001 for 7 consecutive days was investigated in an international, multi-center, open-label, proof-of-concept study in 18 patients with RPE65- or LRAT-related retinitis pigmentosa.

COMPARISON OF MANUAL AND SEMIAUTOMATED FUNDUS AUTOFLUORESCENCE ANALYSIS OF MACULAR ATROPHY IN STARGARDT DISEASE PHENOTYPE.

Purpose: To evaluate manual and semiautomated grading techniques for assessing decreased fundus autofluorescence (DAF) in patients with Stargardt disease phenotype.

Methods: Certified reading center graders performed manual and semiautomated (region finder-based) grading of confocal scanning laser ophthalmoscopy (cSLO) fundus autofluorescence (FAF) images for 41 eyes of 22 patients. Lesion types were defined based on the black level and sharpness of the border: definite decreased autofluorescence (DDAF), well, and poorly demarcated questionably decreased autofluorescence (WDQDAF, PDQDAF).

Assessment of estimated retinal atrophy progression in Stargardt macular dystrophy using spectral-domain optical coherence tomography.

Aims: To estimate disease progression based on analysis of macular volume measured by spectral-domain optical coherence tomography (SD-OCT) in patients affected by Stargardt macular dystrophy (STGD1) and to evaluate the influence of software errors on these measurements.

Methods: 58 eyes of 29 STGD1 patients were included. Numbers and types of algorithm errors were recorded and manually corrected.

RECURRENCE OF VITELLIFORM LESIONS ASSOCIATED WITH TEMPORARY VISION LOSS IN BEST VITELLIFORM MACULAR DYSTROPHY.

Purpose: To describe visual acuity changes associated with several cycles of accumulation, disappearance, and reaccumulation of vitelliform material in Best disease, with fundus photographs, fluorescein angiograms, and optical coherence tomography images documenting these stages.

Methods: Case report with 70 months of follow-up using fundus photography, fluorescein angiography, and optical coherence tomography to image the retina. A non-Hispanic white 33-year-old man with Best disease (positive for a mutation in the BEST1 gene, namely p.

Progression of Vision Loss in Macular Telangiectasia Type 2.

Purpose: To investigate progressive vision loss in patients with macular telangiectasia (MacTel) type 2 and to compare the ability to detect functional decline between microperimetry and visual acuity testing.

Methods: Change of cumulative defect size (number of test points with absolute scotoma) on microperimetry testing and change in distance best-corrected visual acuity (BCVA) were evaluated in a prospective longitudinal observational study.

Results: The mean review period was 55.

Is There Excess Oxidative Stress and Damage in Eyes of Patients with Retinitis Pigmentosa?

Retinitis pigmentosa (RP) is a group of diseases in which a mutation in one of the large variety of genes causes death of rod photoreceptors. After rods die, cone photoreceptors gradually die resulting in constriction of visual fields and eventual blindness in many patients. Studies in animal models of RP have demonstrated that oxidative damage is a major contributor to cone cell death.

Fixation Stability Measurement Using Two Types of Microperimetry Devices.

Purpose: We compared the fixation stability measurements obtained with two microperimeters, the Micro Perimeter 1 (MP-1) and the Spectral OCT/SLO (OCT/SLO), in subjects with and without maculopathies.

Methods: A total of 41 eyes with no known ocular diseases and 45 eyes with maculopathies were enrolled in the study. Both eyes of each participant had a 20-second fixation test using the MP-1 and OCT/SLO.