De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ~30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent variants in the U4 RNA, transcribed from the gene, and in at least two other genes were discovered to cause neurodevelopmental disorder.

Changes in Waveguiding Cone Photoreceptors and Color Vision in Patients With Diabetes Mellitus.

Purpose: Although it is well known that photoreceptor damage and color vision loss occur in patients with diabetic retinopathy (DR), the relationship between structural and functional changes in diabetes mellitus (DM) remains unclear. Using highly sensitive measures of photoreceptor structure and function, we aim to determine whether early loss of color sensitivity in DM is also accompanied by decreased cone density.

Methods: Monocular data from 26 patients with DM and 25 healthy controls were examined to assess cone photoreceptor metrics, using confocal adaptive optics scanning light ophthalmoscopy, and red/green (RG) and yellow/blue (YB) color vision thresholds, using the Colour Assessment and Diagnosis test.

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.

-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.

, one of the most frequently inherited retinal dystrophy (IRD)-causing genes, implies a high phenotypic variability. This study aims to analyze the mutational spectrum in one of the largest cohorts worldwide, and to describe novel pathogenic variants and genotype-phenotype correlations. A study of 220 patients from 103 families recruited from a database of 5000 families.

NAION or not NAION? A literature review of pathogenesis and differential diagnosis of anterior ischaemic optic neuropathies.

Purpose: To offer a comprehensive review of the available data regarding non-arteritic anterior ischaemic optic neuropathy and its phenocopies, focusing on the current evidence to support the different existing aetiopathogenic hypotheses for the development of these conditions.

Conclusions And Importance: Due to the limited array of responses of the neural tissue and other retinal structures, different aetiopathogenic mechanisms may result in a similar clinical picture. Moreover, when the insult occurs within a confined space, such as the optic nerve or the optic nerve head, in which different tissues (neural, glial, vascular) are highly interconnected and packed together, determining the primary noxa can be challenging and may lead to misdiagnosis.

Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.

Purpose: To describe the genetic and clinical spectrum of GUCY2D-associated retinopathies and to accurately establish their prevalence in a large cohort of patients.

Design: Retrospective case series.

Methods: Institutional study of 47 patients from 27 unrelated families with retinal dystrophies carrying disease-causing GUCY2D variants from the Fundación Jiménez Díaz hospital dataset of 8000 patients.

RETINAL NONPERFUSION IN THE EARLY TREATMENT DIABETIC RETINOPATHY STUDY SEVEN FIELDS COMPARED WITH WIDEFIELD FLUORESCEIN ANGIOGRAPHY: Correlation and Use of Extrapolation Factor.

Background: In previous landmark studies on central retinal vein occlusion, retinal nonperfusion assessments were obtained using 7-field (7F) angiography. The widespread current use of widefield imaging allows better visualization of the peripheral retina and more comprehensive estimation of the total area of nonperfusion. The relationship between nonperfusion measurement of 7F and widefield angiography (WFA) in central retinal vein occlusion has not been studied.

Chronic untreated retinal detachment in a patient with choroideremia provides insight into the disease process and potential therapy.

Aim: We present the case of a 72-year-old male with advanced choroideremia and a left chronic rhegmatogenous retinal detachment, which to our knowledge is the first formal report of a retinal detachment in this disease.

Background: Choroideremia is a rare X-linked inherited retinal dystrophy, caused by mutations in the gene which encodes Rab escort protein 1 (REP1), and affected males typically experience a progressive centripetal loss of vision. The disease pathology is caused by a primary retinal pigment epithelium degeneration, which leads to secondary loss of photoreceptors and choriocapillaris.

Subfoveal retinal detachment associated with dome-shaped macula in a 6 year-old child: Comparison with other case reports and systematic review of the literature regarding dome-shaped macula in children.

Purpose: To describe the case of an asymptomatic 6-year-old girl, who was found to have bilateral dome-shaped macula, associated with left serous macular detachment and left optic disc pit, and no evidence of posterior staphyloma in either eye, and to review the literature regarding dome-shaped macula in children and compare our patient's findings with similar case reports.

Observations: Our patient presented with bilateral dome-shaped macula and several other accompanying features, already described in previous reports in children her age.

Conclusions And Importance: Dome-shaped macula is a relatively new entity, which has been mainly described in highly myopic adults.