Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable progress has been made in understanding the molecular basis of these genetically heterogeneous conditions; however, our knowledge of their morbid genome, pleiotropy, and variable expressivity remains incomplete. We applied genomic approaches on a large patient cohort of 371… (More)
MERTK is an essential component of the signaling network that controls phagocytosis in retinal pigment epithelium (RPE), the loss of which results in photoreceptor degeneration. Previous proof-of-concept studies have demonstrated the efficacy of gene therapy using human MERTK (hMERTK) packaged into adeno-associated virus (AAV2) in treating RCS rats and mice… (More)
PURPOSE To evaluate the outcomes of argon laser photoablation of benign conjunctival pigmented nevi with different clinical presentations. PATIENTS AND METHODS This interventional case series was conducted between July 2014 and January 2015. Patients presenting with benign conjunctival nevi were included. Data were collected on the clinical features at… (More)
INTRODUCTION We compared the thickness of the peripapillary retinal nerve fiber layer (RNFL) in patients with diabetic macular edema (DME) and/against the thickness in the normal population. METHODS This cross-sectional study compared the RNFL thickness in patients with DME (DME group) using optical coherence tomography (OCT) to a comparable group of… (More)
[This corrects the article on p. 502 in vol. 22, PMID: 26692725.].
Diabetic retinopathy (DR) is a common clinical expression of diabetes mellitus-induced vasculopathy and is a major cause of vision loss. Significant gaps remain in our understanding of the molecular pathoetiology of DR, and it is hoped that human genetic approaches can reveal novel targets especially since DR is a heritable trait. Previous studies have… (More)
PURPOSE To report unusual ocular manifestations of branchio-oculo-facial syndrome (BOFS) caused by a novel mutation in activating enhancer binding protein 2 alpha (TFAP2A). METHODS Full ophthalmological evaluation and direct sequencing of TFAP2A. RESULTS A 10-year-old girl with unusual ocular manifestations of BOFS such as elliptical shaped microcornea… (More)
PURPOSE To catalog mutations that underlie retinitis pigmentosa (RP) in Saudi Arabia using a representative sample. METHODS Fifty-two patients with RP were recruited and their homozygosity mapping, with or without linkage analysis, was used to suggest the causative genes followed by bidirectional sequencing. RESULTS Mutations were identified in 94% of… (More)