Arif Omar Khan

Arif Omar Khan

Divisions Of Pediatric Ophthalmology (Dr Khan) And Vitreo-Retinal Disease (Dr Al-Harthi), King Khaled Eye Specialist Hospital, Department Of Genetics, King Faisal Specialist ...

Direct Impact

Concepts for which Arif Omar Khan has direct influence:

saudi arabia
axial length
retinal dystrophy
congenital glaucoma
middle east
cycloplegic refraction
cornea plana

External impact

Concepts related to the work of other authors for which Arif Omar Khan has influence:

kif21a mutations
cone dystrophy
congenital fibrosis
extraocular muscles
skeletal dysplasia
knobloch syndrome
autosomal recessive

Prominent publications by Arif Omar Khan

KOL-Index: 85 Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a distinctive brain malformation known as the "molar tooth sign" on axial MRI. Subsets of affected individuals have malformations such as coloboma, polydactyly, and encephalocele, as well as progressive retinal ...
Known for
Cilium | Armc9 Ciliopathy
KOL-Index: 71 Larsen syndrome is characterized by the dislocation of large joints and other less consistent clinical findings. Heterozygous FLNB mutations account for the majority of Larsen syndrome cases, but biallelic mutations in CHST3 and B4GALT7 have been more recently described, thus confirming the existence of recessive forms of the disease. In a multiplex consanguineous Saudi family affected by ...
Known for
Severe Recurrent Joint Dislocation | Heterozygous Flnb Mutations | Retinal Detachment | Matrix Proteins
KOL-Index: 49 PURPOSE: To investigate genetics, electrophysiology, and clinical course of KCNV2-associated retinopathy in a cohort of children and adults. STUDY DESIGN: This was a multicenter international clinical cohort study. METHODS: Review of clinical notes and molecular genetic testing. Full-field electroretinography (ERG) recordings, incorporating the international standards, were reviewed and ...
Known for
Retinopathy Genetics | Range Decreased | Ergs | Electrophysiology Kcnv2
KOL-Index: 42 Joubert syndrome (JS) is a ciliopathy that is defined primarily by typical cerebellar structural and ocular motility defects. The genetic heterogeneity of this condition is significant with 16 genes identified to date. We have used a combination of autozygome-guided candidate gene mutation analysis and exome sequencing to identify the causative mutation in a series of 12 families. The ...
Known for
16 Genes | 12 Families | Autozygome-Guided Candidate Gene Mutation | Genetic Heterogeneity
KOL-Index: 41 PURPOSE: Some individuals are born with congenital limitation of ocular motility, often associated with ptosis and retraction of the globe. Many of these disorders are now known as the congenital cranial dysinnervation disorders (CCDDs). While several genes have been associated with CCDD phenotypes, there are still patients for whom the genetic basis has not been identified. METHODS: ...
Known for
Gene Involved | Retraction Os  Od | Congenital Cranial Dysinnervation Disorders | Actin-Binding Repeat
KOL-Index: 40 PURPOSE: To highlight recognizable patterns of subretinal fibrosis in enhanced S-cone syndrome (ESCS). DESIGN: Retrospective case series. PARTICIPANTS: Forty-seven patients with subretinal fibrosis identified from 101 patients with clinically diagnosed ESCS, confirmed by full-field electroretinography (35/47), genetic testing (34/47), or both. METHODS: Multimodal retinal imaging, ...
Known for
Unifocal Nodular | Inflammatory Fibrosis | Enhanced Cone | Syndrome Escs
KOL-Index: 37 PurposeTo describe our experience with a large cohort (411 patients from 288 families) of various forms of skeletal dysplasia who were molecularly characterized.MethodsDetailed phenotyping and next-generation sequencing (panel and exome).ResultsOur analysis revealed 224 pathogenic/likely pathogenic variants (54 (24%) of which are novel) in 123 genes with established or tentative links to ...
Known for
Candidate Genes | Minimum | International Skeletal Dysplasia Nosology | Autosomal Recessive Forms
KOL-Index: 36 BACKGROUND: Duane retraction syndrome (DRS) is the most common of the congenital cranial dysinnervation disorders (CCDDs). CCDDs can be monogenic or chromosomal in origin. Identification of the genetic cause(s) in patients and families with DRS facilitates definitive diagnosis and provides insights into these developmental errors. MATERIALS AND METHODS: This study described a young girl with ...
Known for
Mild Motor Delay | Syndrome Drs | C8-T1 | Submucosal Cleft Palate
KOL-Index: 35 Biallelic mutations in the nuclear gene LONP1 (LON peptidase 1, mitochondrial) cause CODAS syndrome (cerebral, ocular, dental, auricular, and skeletal anomalies), a systemic disease that can include infantile cataract. However, we have found that biallelic mutations in the gene can also underlie infantile cataract in the setting of minimal or no apparent extraocular findings. This report ...
Known for
Children Infantile
KOL-Index: 35 Congenital cranial dysinnervation disorders are phenotypes of incomitant strabismus and/or ptosis. Recessive mutations in COL25A1 are a recently reported cause, but the associated ophthalmic phenotypes have not been detailed. We highlight phenotypes of the 4 affected children from the 2 reported families: isolated congenital ptosis (one unilateral, one bilateral) and Duane syndrome (one ...
Known for
Isolated Congenital | Recessive Mutations | Ophthalmic Phenotypes | Exotropic Duane

Divisions of Pediatric Ophthalmology (Dr Khan) and Vitreo-retinal Disease (Dr Al-Harthi), King Khaled Eye Specialist Hospital, Department of Genetics, King Faisal Specialist Hospital and Research Center (Drs Khan, Aldahmesh, and Alkuraya), Department

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