Advances in the genetics of eye diseases

Chan, Stephanie; Freund, Paul R.; MacDonald, Ian M.

doi:10.1097/mop.0000000000000026

Cited by 5 publications

(4 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Although genetic testing and surveillance facilitate early diagnosis and intervention as well as provision of epidemiologic data, identification of clinical phenotype also has an important role to play in the care of these patients. For instance, even when genetic testing facilities are available, clinical phenotypes are usually the first consideration before subsequent molecular genetic tests are performed [ 22 ].…”

Section: Discussionmentioning

confidence: 99%

Familial Cataracts: Profile of Patients and Their Families at a Child Eye Care Tertiary Facility in a Developing Country

Ugalahi¹,

Onebunne²,

Olusanya³

et al. 2023

Korean J Ophthalmol

View full text Add to dashboard Cite

Purpose: The aim of this study is to describe the clinical profile, pedigree charting, and management of children with familial cataracts at a child eye health tertiary facility in southwest Nigeria.Methods: The clinical records of children ≤16 years diagnosed with familial cataracts at the Pediatric Ophthalmology Clinic, University College Hospital Ibadan (Ibadan, Nigeria) from January 1, 2015, to December 31, 2019, were retrospectively reviewed. Information on demographic data, family history, visual acuity, mean refractive error (spherical equivalent), and surgical management was retrieved.Results: The study included 38 participants with familial cataract. The mean age at presentation was 6.30 ± 3.68 years, with a range of 7 months to 13 years. Twenty-five patients (65.8%) were male. All patients had bilateral involvement. The mean duration from onset of symptoms to presentation at the hospital was 3.71 ± 3.20 years, with a range of 3 months to 13 years. In 16 of the 17 pedigree charts obtained, at least one individual was affected in each generation. The most common cataract morphology was cerulean cataract, observed in 21 eyes (27.6%). The most common ocular comorbidity was nystagmus which was observed in seven patients (18.4%). Sixty-seven eyes of 35 children underwent surgery within the period of the study. The proportion of eyes that had best-corrected visual acuity ≥6 / 18 before surgery was 9.1%; this proportion had increased to 52.7% at the last postoperative visit.Conclusions: Autosomal dominant inheritance appears to be the major pattern among our patients with familial cataract. The most common morphological type found in this cohort was cerulean cataract. Genetic testing and counseling services are vital for the management of families with childhood cataract.

show abstract

Section: Discussionmentioning

confidence: 99%

Familial Cataracts: Profile of Patients and Their Families at a Child Eye Care Tertiary Facility in a Developing Country

Ugalahi¹,

Onebunne²,

Olusanya³

et al. 2023

Korean J Ophthalmol

View full text Add to dashboard Cite

show abstract

“…Adeno-associated virus (AAV) vectors are often used to deliver the appropriate gene due to their low toxicity and lack of pathogenicity [1]. Gene augmentation therapy in humans showed promising results in the treatment of Leber congenital amaurosis (LCA) caused by mutations in the retinal pigment epithelium-specific 65-kDa protein (RPE65) gene [9–11]. Researchers demonstrated the long-term survival of the AAV vectors and consistent expression of therapeutic genes in animal disease models [9–11].…”

Section: Introductionmentioning

confidence: 99%

“…Gene augmentation therapy in humans showed promising results in the treatment of Leber congenital amaurosis (LCA) caused by mutations in the retinal pigment epithelium-specific 65-kDa protein (RPE65) gene [9–11]. Researchers demonstrated the long-term survival of the AAV vectors and consistent expression of therapeutic genes in animal disease models [9–11]. On December 19, 2017, the U.S. Food and Drug Administration (FDA) approved the AAV therapy (named “Luxturna,” or voretigene neparvovec-rzyl) to treat LCA in humans after the phase 3 trial demonstrated safety and efficacy [10,12].…”

Section: Introductionmentioning

confidence: 99%

CRISPR/Cas9 genome surgery for retinal diseases

Park

Tsang

2018

Drug Discovery Today: Technologies

View full text Add to dashboard Cite

Retinal diseases that impair vision can impose heavy physical and emotional burdens on patients' lives. Currently, clustered regularly interspaced short palindromic repeats (CRISPR) is a prevalent gene-editing tool that can be harnessed to generate disease model organisms for specific retinal diseases, which are useful for elucidating pathophysiology and revealing important links between genetic mutations and phenotypic defects. These retinal disease models are fundamental for testing various therapies and are indispensible for potential future clinical trials. CRISPR-mediated procedures involving CRISPR-associated protein 9 (Cas9) may also be used to edit genome sequences and correct mutations. Thus, if used for future therapies, CRISPR/Cas9 genome surgery could eliminate the need for patients with retinal diseases to undergo repetitive procedures such as drug injections. In this review, we will provide an overview of CRISPR/Cas9, discuss the different types of Cas9, and compare Cas9 to other endonucleases. Furthermore, we will explore the many ways in which researchers are currently utilizing this versatile tool, as CRISPR/Cas9 may have far-reaching effects in the treatment of retinal diseases.

show abstract

“…[ 1 ] In fact, the negative observation might be because of the small sample size used for detecting focused genetic abnormalities. Other possible genetic polymorphisms or mutations[ 2 3 ] associated with keratoconus were not studied by Nejabat et al[ 1 ] In addition, epigenetic factors can also contribute significantly to keratoconus pathogenesis. [ 4 ] Finally, there is ambiguity regarding the details of the quality control of the laboratory tests.…”

mentioning

confidence: 99%