Publications by authors named "Maan Albarry"

6 Publications

  • Page 1 of 1

Prevalence of dry eye syndrome in association with the use of contact lenses in Saudi Arabia.

BMC Ophthalmol 2021 Mar 23;21(1):147. Epub 2021 Mar 23.

Department of Pharmacology and Toxicology, College of Pharmacy, Taibah university, Madinah, Kingdom of Saudi Arabia.

Background: Dry eye disease is a tear film disorder which can cause discomfort to patients and negatively affect vision acuity. A number of risk factors has been reported to affect the incidence and severity of dry eye syndrome (DES). The aim is to study the prevalence of DES in Saudi Arabia and the factors affecting the severity of DES in relation to the use of contact lenses.

Methods: A cross-sectional questionnaire-based study was conducted on 310 participants using the ocular surface disease index (OSDI) questionnaire and the eye dryness part from contact lens questionnaire-8 (CLDEQ-8). Dry eye OSDI scores were compared across different epidemiological and risk factors with focus on the use of contact lenses. Pearson and Spearman's correlation coefficients were used to analyze the frequency of contact lenses usage in relation to OSDI scores. Student's t-test and one-way analysis of variance (ANOVA) tests were used to compare means of two or more than two groups, respectively.

Results: Forty eight (15.5%) of participants did not have any degree of DES, achieving an OSDI score between 0 and 12. Forty participants (12.9%) scored from 13 to 22, (mild DES), 44 (14.2%) were moderate, scoring 23-32 on the OSDI, while those who scored above 33 were 178 (57.4%) had severe DES. The mean score for all participants was 37.8. A high percentage of participants (84.5%) had some degree of DES. There was a strong positive correlation between OSDI score and the frequency of the feeling of dry eye and a moderate positive correlation between OSDI score and the intensity of dryness feeling. Out of 310 participants, 136 (43.9%) indicated using contact lenses. There was no significant association between the use of contact lenses per se and DES, however, those who used contact lenses more frequently had significantly higher OSDI scores.

Conclusions: Dry eye syndrome is a widespread, underdiagnosed condition in Saudi Arabia. The frequency of contact lenses use may contribute to the incidence of DES.
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http://dx.doi.org/10.1186/s12886-021-01912-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7986502PMC
March 2021

Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.

PLoS One 2021 11;16(2):e0246607. Epub 2021 Feb 11.

Center for Genetics and Inherited Diseases, Taibah University, Almadinah, Saudi Arabia.

Waardenburg syndrome (WS) is a hereditary disorder affecting the auditory system and pigmentation of hair, eyes, and skin. Different variants of the disease exist with the involvement of mutation in six genes. The aim of the study is to identify the genetic defects underlying Waardenburg syndrome in a large family with multiple affected individuals. Here, in this study, we recruited a large family with eleven affected individuals segregating WS type 2. We performed whole genome SNP genotyping, whole exome sequencing and segregation analysis using Sanger approach. Whole genome SNP genotyping, whole exome sequencing followed by Sanger validation of variants of interest identified a novel single nucleotide deletion mutation (c.965delA) in the MITF gene. Moreover, a rare heterozygous, missense damaging variant (c.101T>G; p.Val34Gly) in the C2orf74 has also been identified. The C2orf74 is an uncharacterized gene present in the linked region detected by DominantMapper. Variants in MITF and C2orf74 follows autosomal dominant segregation with the phenotype, however, the variant in C2orf74 is incompletely penetrant. We proposed a digenic inheritance of variants as an underlying cause of WS2 in this family.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0246607PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7877624PMC
February 2021

Whole genome genotyping mapped regions on chromosome 2 and 18 in a family segregating Waardenburg syndrome type II.

Saudi J Ophthalmol 2019 Oct-Dec;33(4):326-331. Epub 2019 Sep 18.

Center for Genetics and Inherited Diseases, Taibah University Almadinah, Saudi Arabia.

Objectives: Waardenburg syndrome is a rare genetic disorder. It is characterized by sensorineural hearing impairment and pigment defects of the skin, hair and iris. In some cases abnormalities in the tissues derived from neural crest have also been reported. Mutations in several genes have been reported as an underlying cause of Waardenburg syndrome. Objective of this study is to identify the chromosomal region(s) associated with Waardenburg syndrome in an extended Saudi family.

Methods: Genomic DNA was extracted from fifteen individuals of a Saudi family segregating Waardenburg syndrome. Whole genome SNP genotyping was performed to identify common identity by descent chromosomal region(s) shared by affected individuals.

Results: Pedigree analysis confirm autosomal dominant inheritance of Waardenburg syndrome type II in a family. Whole genome SNP genotypes were analyzed using AutoSNPa and DominantMapper tools. Shared identity by descent chromosomal regions were identified on chromosome 2 and chromosome 18. Regions were checked for known Waardenburg syndrome genes. No known gene is present in both regions.

Conclusions: In summary, we identified novel chromosomal regions associated with Waardenburg syndrome type II in a Saudi family. Deep sequencing of a complete candidate regions are required to identify the gene underlying Waardenburg syndrome in this family.
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http://dx.doi.org/10.1016/j.sjopt.2019.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6950962PMC
September 2019

Novel homozygous loss-of-function mutations in and genes in retinitis pigmentosa patients.

Ophthalmic Genet 2019 12 13;40(6):507-513. Epub 2019 Dec 13.

Center for Genetics and Inherited Diseases, Taibah University Almadinah, Medina, Saudi Arabia.

: Retinitis pigmentosa (RP) is a heterogeneous group of ocular dystrophy. It is challenging to identify the underlying genetic defect in individuals with RP due to huge genetic heterogeneity. This study was designed to delineate the genetic defect(s) underlying RP in extended Saudi families and to describe the possible disease mechanism.: Fundus photography and a high definition optical coherence tomography (HD-OCT) were performed in order to detect the earlier stages of macular degeneration. Genomic DNA was extracted followed by genome-wide SNP genotyping and whole exome sequencing (WES). Exome data was filtered to identify the genetic variant(s) of interest.: Clinical examination showed that affected individuals manifest key features of RP. The fundus exam shows pale optic disc and bone spicules at the periphery. OCT shows macular degeneration as early as at the age of 4 years. Whole genome scan by SNPs identified multiple homozygous regions. WES identified a 10 bps novel insertion mutation (c.3544_3545insAGAAAAGCTG; p.Ala1182fs) in the gene in both affected individuals of family A. Affected individual from family B showed a large insertion of 48 nucleotides in the coding part of the gene (c.3955_3956insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG; p.Ala1319fs). Sanger sequencing validates the autosomal recessive inheritance of the mutations.: The results strongly suggest that the insertion mutations in the and genes are responsible for the retinal phenotype in affected individuals from two families. Heterozygous individuals are asymptomatic carriers. We propose that the protective allele in other homozygous regions in heterozygous carriers contribute to the phenotypic variability in asymptomatic individuals.
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http://dx.doi.org/10.1080/13816810.2019.1703014DOI Listing
December 2019

Long-term use of 0.003% tacrolimus suspension for treatment of vernal keratoconjunctivitis.

Oman J Ophthalmol 2017 Sep-Dec;10(3):145-149

Department of Ophthalmology at Umm Al-Qura University, KSA.

Purpose: To evaluate the safety and efficacy of 0.003% tacrolimus suspension for the treatment of refractory vernal keratoconjunctivitis (VKC).

Materials And Methods: This prospective study included 40 eyes of 20 patients with severe VKC. After discontinuing all other medications, patients were treated with varying doses of 0.003% tacrolimus suspension. All were followed for at least 24 months. Changes in signs and symptoms after treatment were evaluated; adverse events were assessed. The clinical response to the treatment was the most important measurement to achieve the conclusion.

Results: The mean age of the patients was 15.7 ± 1.4 years. Two patients discontinued treatment due to severe burning sensation and were excluded from the study. Significant improvements in all signs and symptoms, including itching, foreign body sensation, papillae, and Trantas dots, were seen in all patients 6 weeks after starting topical tacrolimus. Itching was the first symptom to improve. Treatment was gradually reduced, and intervals were increasing between applications. Recurrence occurred in all patients who attempted to discontinue treatment. No additional medications were required to provide relief, and no significant changes in visual acuity or refraction were seen.

Conclusions: The safety and efficacy of 0.003% Tacrolimus suspension treatment for refractory VKC were achieved and it can be considered a useful option instead of steroids, despite the poor compliance in few patients due its adverse effects.
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http://dx.doi.org/10.4103/ojo.OJO_232_2014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5657154PMC
November 2017

Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa.

Congenit Anom (Kyoto) 2018 Jan 28;58(1):10-15. Epub 2017 May 28.

Center for Genetics and Inherited Diseases, Taibah University Almadinah, Saudi Arabia.

Retinitis pigmentosa (RP) is a group of inherited progressive retinal dystrophies (RD) and is characterized by photoreceptor degeneration. RP is clinically and genetically heterogeneous disorder. More than 70 genes are known and, thus, identification of causative genes and mutations in known genes is challenging. This study was designed to identify the underlying genetic defect in a large extended Saudi family with multiple RP affected members. Fundus photography, Optical Coherence Tomography (OCT) and visual field perimetry were performed for affected individuals. Whole exome sequencing was used to detect the underlying genetic defect in a large family with 12 affected individuals showing autosomal recessive isolated RP. WES data analysis identified a novel insertion mutation in the EYS (eyes shut homolog) gene (c.910_911insT; p.Trp304LeufsTer8). Sanger sequencing validates the variant discovered through exome in all 12 affected individuals and showed that this mutation is segregating with RP phenotype in an autosomal recessive manner in 51 individuals of the family tested here. Our study expands the mutation spectrum of EYS gene in RP patients and extends the body of evidence that supports the importance of EYS gene in eye development.
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http://dx.doi.org/10.1111/cga.12225DOI Listing
January 2018