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.

A patient with albinism and retinitis pigmentosa, a case report.

Purpose: To present a case of molecularly confirmed oculocutaneous albinism (OCA) and retinitis pigmentosa (RP).

Observations: A 46-year-old male with a lifelong established diagnosis of OCA and baseline best corrected visual acuity (BCVA) of 20/200, presented for worsening visual acuity over the last few years. BCVA was light perception and hand motion at face for the right and left eye, respectively.

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.

Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.

Purpose: To analyze the genetic findings, clinical spectrum, and natural history of Best vitelliform macular dystrophy (BVMD) in a cohort of 222 children and adults.

Design: Single-center retrospective, consecutive, observational study.

Participants: Patients with a clinical diagnosis of BVMD from pedigrees with a likely disease-causing monoallelic sequence variant in the BEST1 gene.

Prognostication in Stargardt Disease Using Fundus Autofluorescence: Improving Patient Care.

Purpose: To explore fundus autofluorescence (FAF) imaging as an alternative to electroretinography as a noninvasive, quick, and readily interpretable method to predict disease progression in Stargardt disease (STGD).

Design: Retrospective case series of patients who attended Moorfields Eye Hospital (London, United Kingdom).

Participants: Patients with STGD who met the following criteria were included: (1) biallelic disease-causing variants in ABCA4, (2) electroretinography testing performed in house with an unequivocal electroretinography group classification, and (3) ultrawidefield (UWF) FAF imaging performed up to 2 years before or after the electroretinography.

-Related Retinopathy: Clinical Features, Molecular Genetics, and Gene Replacement Therapy.

Retinitis pigmentosa GTPase regulator () gene variants are the predominant cause of X-linked retinitis pigmentosa (XLRP) and a common cause of cone-rod dystrophy (CORD). XLRP presents as early as the first decade of life, with impaired night vision and constriction of peripheral visual field and rapid progression, eventually leading to blindness. In this review, we present gene structure and function, molecular genetics, animal models, -associated phenotypes and highlight emerging potential treatments such as gene-replacement therapy.