Trisomy 8 mosaicism (T8M) also known as Warkany syndrome 2 is a rare chromosomal disorder characterized by a highly variable phenotypic presentation. Ranging from mild congenital anomalies to life and sight threatening associations. Currently, the most common ophthalmic manifestations are strabismus, hypertelorism, and corneal opacities. Other visually debilitating features include microphthalmia, retinal dystrophy, and optic disc coloboma.

Short stature, optic atrophy, and Pelger-Huët anomaly (SOPH) syndrome is a rare autosomal recessive condition associated with variants in the NBAS gene. First described in 2010, SOPH syndrome is a relatively newly recognized condition and our understanding of the range of its manifestations and the variable expressivity of its features continues to evolve. A total of 110 cases of SOPH syndrome have been published in the literature to date, 93 of which were published in two case series reporting on the Yakut population.

Inherited retinal diseases (IRDs) are a leading cause of vision loss. Lack of awareness and reimbursement may prevent timely genetic testing, leading to delays in diagnosis, genetic counseling, and impeding life planning. We assessed healthcare costs and resource utilization (HCRU) relative to the timing of the genetic test.

The variety of ocular cell types involved in inherited retinal disease (IRD) necessitates the use of gene editing therapeutics which have generalizable components. In our study, we investigate the generalizable characteristics of non-engineered pegRNA design (PE2) for efficient, proof-in-principle gene correction of over 21 genes implicated in IRDs and associated syndromes. We use a single-transgene oligopool approach, comprising approximately 12,000 uniquely barcoded pegRNAs that target a synthetically integrated, 50 bp sequence motif, which faithfully recapitulate the disease context of their various counterpart IRDs. Using this approach, we perform a high throughput, pooled analysis of pegRNA characteristics across non- and ocular cell types to propose a cell-line agnostic set of pegRNA design guidelines.

Retinitis pigmentosa (RP) and many other inherited retinal diseases (IRDs) cause progressive retinal degeneration and eventual blindness, significantly impacting patients' health-related quality of life (HRQoL). Social media (SM) can provide valuable, real-world insights into patient and caregiver perspectives on disease burden and treatments.

Enhanced S-cone syndrome (ESCS) is usually from biallelic pathogenic variants in (nuclear receptor subfamily 2 group E member 3). A less common cause is biallelic pathogenic variants in (neural retina leucine zipper). When recordable, the ESCS electroretinogram (ERG) is pathognomonic. The diagnostic ERG features of ESCS do not include an electronegative waveform. The purpose of this study is to characterize ESCS in the United Arab Emirates (UAE).

Among the genes implicated in inherited retinal degenerations (IRDs), disease-causing variants in have recently been reported, although they remain exceedingly rare. In some cases, these variants are associated with macular pseudocoloboma. encodes the alpha subunit of the mitochondrial NAD-dependent isocitrate dehydrogenase 3 (IDH3) complex, a key enzyme in the tricarboxylic acid (TCA) cycle.

Familial exudative vitreoretinopathy (FEVR) is a category of vitreoretinal diseases with a broad phenotypic spectrum ranging from subclinical peripheral vascular changes to total retinal detachments. We report the clinical and molecular genetic findings in a 43-year-old patient whose ocular findings were consistent with retinitis pigmentosa but genetic testing indicative of FEVR.

To assess the detectability of the pathogenic insertion using the PrismGuide™ inherited retinal dystrophy (IRD) panel, which targets 82 IRD genes, and whole-exome sequencing (WES).

Two patients with a suspected inherited retinal dystrophy (IRD) were referred to a specialist ophthalmology clinic for genetic testing to determine the cause of their disease.

The 2p duplication syndrome is a rare clinically heterogeneous disorder that arises from non-recurrent chromosomal rearrangements involving ~6 Mb up to ~90 Mb. The patients are characterized by a wide range of symptoms, including developmental delay, intellectual disability, distinctive facial features, congenital heart defects, and various ophthalmic manifestations.

Birt-Hogg-Dubé (BHD) syndrome 1 is caused by pathogenic folliculin (FLCN) variants, resulting in classic hair follicle tumors, pulmonary cysts, pneumothorax, and renal cancer. FLCN is expressed in retinal tissues, and previous reports of BHD described flecked chorioretinopathy, choroidal melanoma, chorioretinal atrophy, and retinal pigment epithelium microdetachments. FLCN has been implicated in numerous cellular processes of metabolism, autophagy, differentiation, ciliary function, and cellular adhesion.

Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked dominant disorder caused by pathogenic BCOR variants and characterized by congenital cataracts, microcornea, and secondary glaucoma. Multilocus pathogenic variation (MPV), in which independent variants contribute to disease burden, can further complicate syndromic presentations and alter surgical planning. This case highlights the importance of longitudinal genetic evaluation in complex ophthalmic disease.

Oguchi disease, a rare form of congenital stationary night blindness (CSNB), is an autosomal recessive inherited retinal disorder (IRD) caused by pathogenic variants in the SAG gene, which encodes arrestin-1, a key protein in the phototransduction cascade.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene. While it predominantly affects cerebral arterioles, emerging evidence indicates systemic vascular involvement. Ocular manifestations, particularly venous abnormalities such as branch retinal vein occlusion (BRVO), are exceedingly rare and not well characterized in CADASIL.

Congenital cone-rod synaptic disease (CRSD) belongs to a group of genetically and clinically heterogeneous retinal disorders. Pathogenic variants in the gene coding for the calcium-binding protein four can lead to this condition. Several disease-causing variants lead to this condition. In support of this, our current study aimed to genetically characterize a consanguineous Lebanese family with two young siblings who show CRSD.

Heimler syndrome is a rare autosomal recessive disorder at the mild end of the peroxisomal biogenesis disorders (PBDs), characterized by sensorineural hearing loss, amelogenesis imperfecta, and retinal dystrophy. Nail abnormalities affect a minority.

Non-coding regions are long, and there is little research on their variations contributing to disease. This study analyzed a patient with Usher syndrome Type 1F (USH1F) and discovered two compound heterozygous non-coding variants in the gene.

Fish-eye disease (FED) is a rare, autosomal recessive genetic disorder that can present at any age, from as early as the second decade of life to late adulthood. The hallmark clinical manifestation of FED is dyslipidemia and slowly progressive bilateral corneal opacification, which can impair vision quality due to highly elevated straylight. Here, we report the ophthalmic findings observed in FED by presenting a case that had been misdiagnosed for years until genetic testing was performed.

Variants in the gene have recently been described in patients with inherited retinal disease; so far, there is limited knowledge about this entity, differential diagnoses, and disease progression. Here, we report a novel splice variant in and describe the associated retinopathy.