Retinoblastoma is initiated by inactivation of gene, but additional alterations may be required for tumor progression. Substitution and INDEL variants in different genes, aside , are infrequent, while large copy number variants (CNVs) like gains on 1q, 2p, 6p and loss on 16q are common, they include oncogenes or tumor suppressors and are typical of retinoblastoma.

Corneal dystrophies (CDs) significantly affect quality of life. However, their progression and characteristics remain unclear. This study aimed to report a case of a unilateral variant of lattice corneal dystrophy (LCD) with c.1501C>A (p.P501T) and c.1733T>C (p.L578P) variants in the transforming growth factor-beta-induced (TGFBI) gene.

Abetalipoproteinemia (ABL, MIM 200,100) is a rare autosomal recessive disorder caused by nonfunctional microsomal triglyceride transfer protein leading to absence of apolipoprotein B-containing lipoproteins in plasma and a retinitis pigmentosa-like fundus. The MTTP gene is expressed in retinal pigment epithelium (RPE) and ganglion cells of the human retina. Understanding ABL pathophysiology would benefit from new cellular-level clinical imaging of affected retinas.

Axenfeld-Rieger syndrome (ARS, OMIM:602482) is a genetic disease characterized by ocular and systemic features. Clinical features of ARS are highly variable among patients and associated with mutations of human and genes. Herein, we present an ARS in two cases (proband and his mother) with a novel variant in the .

-related eye disorder is a rare autosomal recessive disease with a wide spectrum of severity and expressivity. We describe the genotypic and phenotypic findings in a cohort of Ohio Anabaptist with a pathogenic gene sequence variation.

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.

Bardet-Biedl syndrome (BBS) is a rare syndromic ciliopathy characterized with retinal degeneration and a broad range of systemic features. Twenty-six BBS-associated genes have been identified to date and clinical genetic testing resolves around 80% of the cases. Two BBS cases unsolved by clinical genetic testing were recruited to identify causative variants using next-generation sequencing.

To investigate whether genetic and clinical characteristics differ depending on generations using 326 patients (male/female, 259/67; mean age, 55.4 ± 12.5 years) with simple CSC.

Deficiency of adenosine deaminase 2 (DADA2) is a rare autosomal recessive autoinflammatory disorder associated with systemic vasculitis and bone marrow failure. Reported ophthalmic findings in DADA2 include optic neuritis, retinal artery occlusion, uveitis, and optic atrophy. We report the case of a child found to have bilateral cataracts.

Keratoconus (KC) is an asymmetrical bilateral corneal ectasia, of which the pathogenesis is unknown. Moreover, genetic factors play an important role. We reported ophthalmic findings in a Chinese family with monozygotic twins with KC to describe the clinical features and identify genetic variants.

Wolfram syndrome due to bi-allelic variants in and mono-allelic Wolfram-like syndrome have variable ocular and syndromic associations. In this report, eight patients are described.

Primary open-angle glaucoma (POAG) is a subtype of glaucoma that accounts for 60%~70% of all cases. Its pathogenic mechanism is intricate and its pathogenic process is concealed. Numerous significant biological processes associated with POAG continue to be elucidated.

Cone dystrophy is a heterogeneous hereditary retinal disorder with disease symptoms appearing in the late first or early second decades of life.

Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder classically characterized by central nervous system and renal abnormalities. Optic atrophy has been reported as a common ophthalmic feature, and other characteristics, including nystagmus, strabismus, oculomotor apraxia, and retinopathy have been reported; however, data on retinal involvement and dysfunction is limited. In this case report, we aim to describe retinal findings in a female adolescent diagnosed with GAMOS due to a homozygous variant in the gene.

and -related diseases are both phenotypically heterogeneous and clinically difficult to differentiate. There may be examination and imaging features that can aid in establishing a clinical diagnosis.

One of the conditions that might harm your eyesight is diabetic retinopathy (DR), DR may set in slowly but surely for those with long-term diabetes and poor glucose control. ‎.

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. Whilst a consensus has yet to be reached about the best stage/type of cells for transplantation (stem cells, progenitor cells, differentiated RPE and photoreceptors) and the methods of implantation (sheet, suspension), several CTs have shown safety. There remain potential concerns regarding tumorigenicity and immune rejection; however, with ongoing improvements in cell generation, selection, and delivery, these can be minimized. Earlier studies showed efficacy with immunosuppressive drugs to prevent rejection, and recent donor-matched transplants have avoided the need for immunosuppression. Retinal regenerative medicine is a challenging field and is in a nascent stage but holds tremendous promise. This narrative review delves into the current understanding of stem cells and the latest clinical trials of retinal cell transplantation.

Classically, Usher syndrome is characterized by the association of sensorineural hearing loss (SNHL), retinitis pigmentosa (RP) and possible vestibular dysfunction. Pathogenic bi-allelic variants in cause atypical autosomal recessive Usher syndrome, which is associated with SNHL and photoreceptors 20 dysfunction without vestibular signs. To date, only 19 scattered descriptions have been reported. In this study, we present detailed clinical and genetic description of 7 unrelated individuals with related disease, along with a literature review to provide new insight on the severity and course of the disease.

This study aims to estimate the potential causal relationship between genetically predicted levels of inflammatory cytokine and retinitis pigmentosa (RP) by performing Mendelian randomization (MR).

To report the occurrence of unilateral, neonatal-onset congenital glaucoma in a child with Rubinstein-Taybi Syndrome (RTS).

Neurofibromatosis type-2-related schwannomatosis (-SWN, formerly neurofibromatosis type 2) is a rare genetic disorder marked by the development of multiple nervous system tumors.