Imaging biomarkers and artificial intelligence for diagnosis, prediction, and therapy of macular fibrosis in age-related macular degeneration: Narrative review and future directions.

Macular fibrosis is an end-stage complication of neovascular Age-related Macular Degeneration (nAMD) with a complex and multifactorial pathophysiology that can lead to significant visual impairment. Despite the success of anti-vascular endothelium growth factors (anti-VEGF) over the last decade that revolutionised the management and visual prognosis of nAMD, macular fibrosis develops in a significant proportion of patients and, along with macular atrophy (MA), is a main driver of long-term vision deterioration. There remains an unmet need to better understand macular fibrosis and develop anti-fibrotic therapies.

Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of >3500 Patients with Inherited Retinal Disease from the United Kingdom.

Purpose: To quantify relevant fundus autofluorescence (FAF) features cross-sectionally and longitudinally in a large cohort of patients with inherited retinal diseases (IRDs).

Design: Retrospective study of imaging data.

Participants: Patients with a clinical and molecularly confirmed diagnosis of IRD who have undergone 55° FAF imaging at Moorfields Eye Hospital (MEH) and the Royal Liverpool Hospital between 2004 and 2019.

Retinal Sensitivity in KCNV2-Associated Retinopathy.

Purpose: The purpose of this study was to analyze the retinal sensitivity under photopic, mesopic, and scotopic conditions in a cohort of patients affected with KCNV2-associated retinopathy.

Methods: Cross-sectional evaluation of molecularly confirmed individuals was conducted. Data were obtained prospectively.

Stem cell-based therapies for retinal diseases: focus on clinical trials and future prospects.

Stem cell-based therapy has gained importance over the past decades due to huge advances in science and technology behind the generation and directed differentiation of pluripotent cells from embryos and adult cells. Preclinical proof-of-concept studies have been followed by clinical trials showing efficacy and safety of transplantation of stem cell-based therapy, which are beginning to establish this as a modality of treatment. Disease candidates of interest are primarily conditions that may benefit from replacing dead or dying cells, including advanced inherited retinal dystrophies and age-related macular degeneration, and predominantly seek to transplant either RPE or photoreceptors, although neurotrophic approaches have also been trialed.

Bardet-Biedl syndrome with chorioretinal coloboma: a case series and review of literature.

Introduction: Bardet-Biedl Syndrome (BBS) is a ciliopathy causing developmental defects and progressive retinal dystrophy, whereas choroidal coloboma is a developmental defect causing structural deficiency in the posterior retina. Both are rarely reported together.

Methods: Here, we describe the phenotype and genotype of three unrelated patients with co-occurrence of Bardet-Biedl Syndrome and chorioretinal coloboma and review the pertinent literature.

PDE6A-Associated Retinitis Pigmentosa, Clinical Characteristics, Genetics, and Natural History.

Purpose: To analyze the genetics, clinical characteristics, and natural history of PDE6A-associated retinitis pigmentosa.

Design: Retrospective, longitudinal, observational cohort study.

Participants: Patients with molecularly confirmed PDE6A-associated retinal dystrophy in a single tertiary referral center.

Mild retinitis pigmentosa, including sector retinitis pigmentosa associated with 2 pathogenic variants in .

Background: Biallelic pathogenic variants in can cause Usher syndrome type I (USH1), typically characterized by sensorineural hearing loss, variable vestibular areflexia, and a progressive form of rod-cone dystrophy. While missense variants in can cause DFNB12 deafness, other variants can affect the cadherin 23 function, more severely causing Usher syndrome type I D. The main purpose of our study is to describe the genotypes and phenotypes of patients with mild retinitis pigmentosa (RP), including sector RP with two pathogenic variants in .

CDH23-Associated Usher Syndrome: Clinical Features, Retinal Imaging, and Natural History.

Purpose: The purpose of this study was to analyze the clinical spectrum and natural history of CDH23-associated Usher syndrome type ID (USH1D).

Methods: Molecularly-confirmed individuals had data extracted from medical records. Retinal imaging was extracted from an in-house database.

A Long-Term Retrospective Natural History Study of EFEMP1-Associated Autosomal Dominant Drusen.

Purpose: To analyze the natural history of EFEMP1-associated autosomal dominant drusen (ADD).

Methods: In this retrospective observational study of molecularly confirmed patients with ADD, data and retinal imaging were extracted from an in-house database. The main outcome measurements were best-corrected visual acuity (BCVA), refraction, and retinal imaging, including quantitative analyses of the outer nuclear layer (ONL) thickness and pigmented epithelium detachment area, as well as qualitative analyses.

Phase 1/2 AAV5-hRKp.RPGR (Botaretigene Sparoparvovec) Gene Therapy: Safety and Efficacy in RPGR-Associated X-Linked Retinitis Pigmentosa.

Purpose: To assess the safety and efficacy of AAV5-hRKp.RPGR in participants with retinitis pigmentosa GTPase regulator (RPGR)-associated X-linked retinitis pigmentosa (XLRP).

Design: Open-label, phase 1/2 dose escalation/expansion study (ClinicalTrials.

Clinical, Ophthalmic, and Genetic Characterization of RPGRIP1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy.

Purpose: To present the clinical characteristics, retinal features, natural history, and genetics of RPGRIP1-associated early-onset severe retinal dystrophy (EOSRD)/Leber congenital amaurosis (LCA).

Design: Retrospective case series.

Methods: Review of clinical notes, multimodal retinal imaging, and molecular diagnosis of 18 patients (17 families) with EOSRD/LCA and disease-causing variants in RPGRIP1.

Sex Distributions in Non-ABCA4 Autosomal Macular Dystrophies.

Purpose: We sought to explore whether sex imbalances are discernible in several autosomally inherited macular dystrophies.

Methods: We searched the electronic patient records of our large inherited retinal disease cohort, quantifying numbers of males and females with the more common (non-ABCA4) inherited macular dystrophies (associated with BEST1, EFEMP1, PROM1, PRPH2, RP1L1, and TIMP3). BEST1 cases were subdivided into typical autosomal dominant and recessive disease.

In-Depth Retinal Sensitivity Assessment With the MP3 Type S Microperimeter: A Methods Study.

Purpose: Retinal sensitivity is frequently listed as an end point in clinical trials, often with long working practices. The purpose of this methods study was to provide a new workflow and reduced test time for in-depth characterization of retinal sensitivity.

Methods: A workflow for the MP3-S microperimeter with detailed functional characterization of the retina under photopic, mesopic, and scotopic conditions was evaluated.

Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Inherited Retinal Disease Patients from the United Kingdom.

Purpose: To quantify relevant fundus autofluorescence (FAF) image features cross-sectionally and longitudinally in a large cohort of inherited retinal diseases (IRDs) patients.

Design: Retrospective study of imaging data (55-degree blue-FAF on Heidelberg Spectralis) from patients.

Participants: Patients with a clinical and molecularly confirmed diagnosis of IRD who have undergone FAF 55-degree imaging at Moorfields Eye Hospital (MEH) and the Royal Liverpool Hospital (RLH) between 2004 and 2019.

Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.

Objective: To examine the molecular causes of Schubert-Bornschein (S-B) congenital stationary night blindness (CSNB), clinically characterize in detail, and assess genotype-phenotype correlations for retinal function and structure.

Design: Retrospective, longitudinal, single-center case series.

Participants: One hundred twenty-two patients with S-B CSNB attending Moorfields Eye Hospital, United Kingdom.

Structural and functional characterization of an individual with the M285R hypomorphic allele.

Background: Disease-causing variants in the gene are associated with "cone dystrophy with supernormal rod responses," a rare autosomal recessive retinal dystrophy. There is no previous report of hypomorphic variants in the disease.

Material And Methods: Medical history, genetic testing, ocular examination, high-resolution retinal imaging including adaptive optics scanning light ophthalmoscopy (AOSLO), and functional assessments.

SHWACHMAN-DIAMOND SYNDROME ASSOCIATED WITH ROD-CONE DYSTROPHY.

Purpose: The aim of this study was to report a patient with Shwachman-Diamond syndrome and concomitant rod-cone dystrophy who underwent bone marrow transplantation.

Methods: This was a retrospective single case report.

Results: A female patient with Shwachman-Diamond syndrome was referred to a tertiary hospital to investigate possible pigmentary retinopathy at the age of 16 years.

Genetics, Clinical Characteristics, and Natural History of PDE6B-Associated Retinal Dystrophy.

Purpose: To analyze the clinical characteristics, natural history, and genetics of PDE6B-associated retinal dystrophy.

Design: Retrospective, observational cohort study.

Methods: Review of medical records and retinal imaging, including fundus autofluorescence (FAF) imaging and spectral-domain optical coherence tomography (SD-OCT) of patients with molecularly confirmed PDE6B-associated retinal dystrophy in a single tertiary referral center.

Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.

Inherited retinal diseases (IRD) are a leading cause of blindness in the working age population and in children. The scope of this review is to familiarise clinicians and scientists with the current landscape of molecular genetics, clinical phenotype, retinal imaging and therapeutic prospects/completed trials in IRD. Herein we present in a comprehensive and concise manner: (i) macular dystrophies (Stargardt disease (ABCA4), X-linked retinoschisis (RS1), Best disease (BEST1), PRPH2-associated pattern dystrophy, Sorsby fundus dystrophy (TIMP3), and autosomal dominant drusen (EFEMP1)), (ii) cone and cone-rod dystrophies (GUCA1A, PRPH2, ABCA4, KCNV2 and RPGR), (iii) predominant rod or rod-cone dystrophies (retinitis pigmentosa, enhanced S-Cone syndrome (NR2E3), Bietti crystalline corneoretinal dystrophy (CYP4V2)), (iv) Leber congenital amaurosis/early-onset severe retinal dystrophy (GUCY2D, CEP290, CRB1, RDH12, RPE65, TULP1, AIPL1 and NMNAT1), (v) cone dysfunction syndromes (achromatopsia (CNGA3, CNGB3, PDE6C, PDE6H, GNAT2, ATF6), X-linked cone dysfunction with myopia and dichromacy (Bornholm Eye disease; OPN1LW/OPN1MW array), oligocone trichromacy, and blue-cone monochromatism (OPN1LW/OPN1MW array)).

TWO CASES OF CRB1-RELATED RETINAL DYSTROPHY ASSOCIATED WITH RETINAL MASSES.

Background/purpose: Mutations in CRB1 are associated with variable severity in expression leading to apparent phenotypic diversity. We present two retinal findings.

Methods: We present two unrelated children with CRB1-related retinal dystrophy with a solitary mass visualized on fundoscopy.

Artificial intelligence in retinal disease: clinical application, challenges, and future directions.

Retinal diseases are a leading cause of blindness in developed countries, accounting for the largest share of visually impaired children, working-age adults (inherited retinal disease), and elderly individuals (age-related macular degeneration). These conditions need specialised clinicians to interpret multimodal retinal imaging, with diagnosis and intervention potentially delayed. With an increasing and ageing population, this is becoming a global health priority.

RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.

Purpose: To review and describe in detail the clinical course, functional and anatomic characteristics of RP2-associated retinal degeneration.

Design: Retrospective case series.

Participants: Male participants with disease-causing variants in the RP2 gene.

KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2.

Purpose: To describe the detailed retinal phenotype of KCNV2-associated retinopathy.

Study Design: Multicenter international retrospective case series.

Methods: Review of retinal imaging including fundus autofluorescence (FAF) and optical coherence tomography (OCT), including qualitative and quantitative analyses.