Novel < em > ATF6 < /em > homozygous variant in a Chinese patient with achromatopsia
CONCLUSIONS: We reported detailed clinical features and genetic analysis of a new Chinese ATF6-associated patient with ACHM.PMID:38419580 | DOI:10.1080/13816810.2024.2322643 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - February 29, 2024 Category: Opthalmology Authors: Shijing Wu Yinhui Yu Yao Wang Li Zhang Xiaoyun Fang Panpan Ye Jian Ma Source Type: research

[PERSPECTIVES] Canine and Feline Models of Inherited Retinal Diseases
Naturally occurring inherited retinal diseases (IRDs) in cats and dogs provide a rich source of potential models for human IRDs. In many cases, the phenotypes between the species with mutations of the homologous genes are very similar. Both cats and dogs have a high-acuity retinal region, the area centralis, an equivalent to the human macula, with tightly packed photoreceptors and higher cone density. This and the similarity in globe size to that of humans means these large animal models provide information not obtainable from rodent models. The established cat and dog models include those for Leber congenital amaurosis, r...
Source: Cold Spring Harbor perspectives in medicine - February 1, 2024 Category: Research Authors: Petersen-Jones, S. M., Komaromy, A. M. Tags: Retinal Disorders: Genetic Approaches to Diagnosis and Treatment PERSPECTIVES Source Type: research

Unusual OCT findings in a patient with CABP4-associated cone –rod synaptic disorder
ConclusionsOCT findings of foveal elevation and an underlying hypo-reflective zone are novel in this condition. Whilst the clinical history was similar to achromatopsia and other cone dysfunction syndromes, ERG findings suggested disease associated withCACNA1F orCABP4. AsCACNA1F is X-linked,CABP4 was more likely, and confirmed on genetic testing. The patient saw better in dim light, confirming that night blindness is not a feature ofCABP4-associated disease. Our case highlights the value of ERGs in discriminating between causes of cone dysfunction, and extends the range of retinal imaging phenotypes reported in this disord...
Source: Documenta Ophthalmologica - January 11, 2024 Category: Opthalmology Source Type: research

The endoplasmic reticulum: Homeostasis and crosstalk in retinal health and disease
Prog Retin Eye Res. 2023 Dec 11:101231. doi: 10.1016/j.preteyeres.2023.101231. Online ahead of print.ABSTRACTThe endoplasmic reticulum (ER) is the largest intracellular organelle carrying out a broad range of important cellular functions including protein biosynthesis, folding, and trafficking, lipid and sterol biosynthesis, carbohydrate metabolism, and calcium storage and gated release. In addition, the ER makes close contact with multiple intracellular organelles such as mitochondria and the plasma membrane to actively regulate the biogenesis, remodeling, and function of these organelles. Therefore, maintaining a homeost...
Source: Cell Research - December 13, 2023 Category: Cytology Authors: Sarah X Zhang Josh J Wang Christopher R Starr Eun-Jin Lee Sophia Park Assylbek Zhylkibayev Andy Medina Jonathan H Lin Marina Gorbatyuk Source Type: research

Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases
Stem Cell Res Ther. 2023 Nov 27;14(1):340. doi: 10.1186/s13287-023-03564-5.ABSTRACTInherited retinal diseases (IRDs) can induce severe sight-threatening retinal degeneration and impose a considerable economic burden on patients and society, making efforts to cure blindness imperative. Transgenic animals mimicking human genetic diseases have long been used as a primary research tool to decipher the underlying pathogenesis, but there are still some obvious limitations. As an alternative strategy, patient-derived induced pluripotent stem cells (iPSCs), particularly three-dimensional (3D) organoid technology, are considered a ...
Source: Cell Research - November 28, 2023 Category: Cytology Authors: Yuqin Liang Xihao Sun Chunwen Duan Shibo Tang Jiansu Chen Source Type: research

Achromatopsia: Long term visual performance and clinical characteristics
CONCLUSIONS: CNGA3 is the main gene associated with achromatopsia in our population (around ∼ 73%), which is in contrast to the distribution worldwide (∼ 25%). Most achromats suffer from photophobia and nystagmus, and the main refractive error is hypermetropia. Achromatopsia's natural course seems to be stationary, and there may even be a slight improvement in visual acuity with time.PMID:37920903 | DOI:10.1177/11206721231212768 (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - November 3, 2023 Category: Opthalmology Authors: Yuval Margherita Eshel Ora Abaev Claudia Yahalom Source Type: research

Achromatopsia: Long term visual performance and clinical characteristics
CONCLUSIONS: CNGA3 is the main gene associated with achromatopsia in our population (around ∼ 73%), which is in contrast to the distribution worldwide (∼ 25%). Most achromats suffer from photophobia and nystagmus, and the main refractive error is hypermetropia. Achromatopsia's natural course seems to be stationary, and there may even be a slight improvement in visual acuity with time.PMID:37920903 | DOI:10.1177/11206721231212768 (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - November 3, 2023 Category: Opthalmology Authors: Yuval Margherita Eshel Ora Abaev Claudia Yahalom Source Type: research

Achromatopsia: Long term visual performance and clinical characteristics
CONCLUSIONS: CNGA3 is the main gene associated with achromatopsia in our population (around ∼ 73%), which is in contrast to the distribution worldwide (∼ 25%). Most achromats suffer from photophobia and nystagmus, and the main refractive error is hypermetropia. Achromatopsia's natural course seems to be stationary, and there may even be a slight improvement in visual acuity with time.PMID:37920903 | DOI:10.1177/11206721231212768 (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - November 3, 2023 Category: Opthalmology Authors: Yuval Margherita Eshel Ora Abaev Claudia Yahalom Source Type: research

Keratoconus, Dry Eye Syndrome, Overnight Orthokeratology, Achromatopsia and Uveitis in Children
Klin Monbl Augenheilkd. 2023 Oct;240(10):1129-1130. doi: 10.1055/a-2101-7551. Epub 2023 Oct 23.NO ABSTRACTPMID:37871591 | DOI:10.1055/a-2101-7551 (Source: Klinische Monatsblatter fur Augenheilkunde)
Source: Klinische Monatsblatter fur Augenheilkunde - October 23, 2023 Category: Opthalmology Authors: G öran Darius Hildebrand G ünter Rudolph Herbert J ägle Source Type: research