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1.
Saudi J Ophthalmol ; 36(2): 163-170, 2022.
Article in English | MEDLINE | ID: mdl-36211322

ABSTRACT

PURPOSE: To report the surgical outcome of early lens aspiration, posterior chamber intraocular lens (PC IOL), and capsular tension ring (CTR) in a case series of microspherophakia (MSP) and secondary glaucoma. METHODS: Case series of 18 eyes of MSP cases presented with lenticular myopia and secondary glaucoma that underwent early lens aspiration, PC IOL and CTR by one ophthalmologist. Baseline, long-term postoperative outcomes and complications were documented. RESULTS: All cases underwent successful surgery with lens aspiration PC IOL implantation and CTR insertion without intraoperative complications. One of the 18 cases was a delayed referral which had broad anterior synechiae and following lens aspiration developed corneal decompensation. In one eye, CTR implantation was not possible hence, lens aspiration with scleral fixation (SF) of 3 piece IOL was performed (excluded from the analysis). Overall there was an improvement in visual acuity (from 0.3 ± 0.1 to 0.2 ± 0.2 LogMar, P = 0.006), intraocular pressure (IOP), and most notably, deepening of the anterior chamber. Some cases required subsequent glaucoma surgery to control IOP. After a long duration of follow-up, all cases had stable capsular lens complex and no capsular phimosis. CONCLUSION: Early Lens aspiration with CTR and PCIOL alone in MSP with lens subluxation has a significant impact on the patient's quality of vision, deepening the anterior chamber and preventing complications or poor outcomes. In addition, good capsular-lens complex stability and absence of capsular phimosis or phacodonesis on long-term follow-up were obtained.

2.
Saudi J Ophthalmol ; 30(1): 49-52, 2016.
Article in English | MEDLINE | ID: mdl-26949359

ABSTRACT

Juvenile xanthogranuloma (JXG) is a benign inflammatory condition of uncertain pathogenesis. It is characterized by skin and ocular involvement - typically in the iris - in children. It has been reported in older age groups and has been also observed to involve other ocular structures such as the cornea and conjunctiva. In this case report, we are presenting an extensive right eye corneal lesion in a 43-year old male which showed the typical histopathological feature of JXG and in association with multiple endocrine neoplasia (type 1). Similar cases in the English-language literature have been also reviewed.

3.
Saudi J Ophthalmol ; 29(4): 303-6, 2015.
Article in English | MEDLINE | ID: mdl-26586985

ABSTRACT

Fungal keratitis accounts for 6-53% of all cases of ulcerative keratitis in variable studies. The majority of cases are due to septate fungi. The abnormal cornea in cases of dry eye syndrome, chronic ulceration, erythema multiform and possibly HIV infection is infected more commonly with Candida, most commonly Candida albicans. Candida parapsilosis affects neonates and intensive care unit (ICU) patients and it has been recently found with increasing frequency. In a previous study on mycotic keratitis in our tertiary eye hospital, filamentous fungi were more commonly isolated than yeasts. We are presenting 2 successive cases of corneal graft infection by Candida parapsilosis referred to us from another eye center to attract the attention of ophthalmologists and health workers to such an infection.

4.
Middle East Afr J Ophthalmol ; 22(2): 179-85, 2015.
Article in English | MEDLINE | ID: mdl-25949075

ABSTRACT

PURPOSE: The aim was to determine the frequency and describe the main histopathologic features of corneal stromal dystrophy in Saudi Arabia. METHODS: A single-center, retrospective analysis of 193 corneal specimens diagnosed with stromal dystrophy. All samples were retrieved from the Histopathology Department at King Khaled Eye Specialist Hospital over a 10-year period (2002 to December 31, 2011). Cases of stromal dystrophy undergoing keratoplasty were included in the study. Routine histopathologic stains and specific stains were used to determine a diagnosis. The corresponding demographic data and basic clinical/surgical information were collected via chart review. RESULTS: The study sample was comprised of 193 eyes. The final diagnoses were macular corneal dystrophy (MCD) in 180 (93.26%) eyes, granular corneal dystrophy (GCD) in 9 (4.66%) and lattice corneal dystrophy (LCD) in 4 (2.07%) eyes. The mean age at presentation was 27.03 years for MCD, 26.33 years for GCD and 53.75 years for LCD. The interval between diagnosis and surgical intervention was not statistically different between the macular and granular groups (P = 0.141). There was a positive family history for the MCD (37.22%) and GCD (44.44%) groups. All eyes underwent penetrating keratoplasty (PKP) except 10 MCD cases that underwent lamellar keratoplasty. Diffuse stromal deposits were present in 87.2% of MCD corneas and 66.67% of GCD corneas. Seventeen eyes with MCD were misdiagnosed as GCD. None of the LCD cases were clinically identified since all of these cases were diagnosed as corneal scarring. In eyes with MCD that underwent PKP, there was diffuse stromal involvement (in 87.22% eyes) and changes in Descemet's membrane (in 53.5% eyes). CONCLUSION: This pathological study suggested that MCD was the most common corneal stromal dystrophy that required keratoplasty in Saudi Arabia. Patient with MCD and GCD presented at a significantly younger age than LCD. The clinical diagnosis of MCD is not achieved in all cases likely due to a more severe phenotype in the Saudi population or the presence of corneal scarring that is associated with previous trachoma, which obscures the classical appearance of LCD. We believe that PKP is first-line surgical treatment, especially for MCD because it involves all corneal layers. However, deep stromal involvement and changes in Descemet's membrane in MCD should be considered when selecting the surgical procedure.


Subject(s)
Corneal Dystrophies, Hereditary/epidemiology , Corneal Dystrophies, Hereditary/pathology , Adolescent , Adult , Aged , Child , Corneal Dystrophies, Hereditary/surgery , Corneal Transplantation/methods , Female , Humans , Keratoplasty, Penetrating , Male , Middle Aged , Prevalence , Retrospective Studies , Saudi Arabia/epidemiology , Visual Acuity/physiology
5.
Middle East Afr J Ophthalmol ; 21(1): 40-3, 2014.
Article in English | MEDLINE | ID: mdl-24669144

ABSTRACT

PURPOSE: Listeria monocytogenes is an aerobic, motile, gram positive bacillus recognized as an intercellular pathogen in human where it most frequently affects neonates, pregnant women, elderly patients, and immunosuppressed individuals as well as healthy persons. Ocular listeriosis is rare, most frequently in the form of conjunctivitis, but has been also shown to cause rarely endophthalmitis with pigmented hypopyon and elevated intraocular pressure such as in our case. MATERIALS AND METHODS: We are reporting one immunocompetent patient presenting with dark hypopyon following laser refractive procedure. His clinical findings, investigations, and further management are all described with relevant literature review of similar cases. RESULTS: Diagnosis of ocular listeriosis was confirmed by positive culture of anterior chamber (AC) aspirate with identification of the above organism. His visual outcome was satisfactory with good preserved vision. CONCLUSION: We believe that his ocular infection was exogenous and that ophthalmologists should be aware of the causative organisms of colored hypopyon to avoid delayed diagnosis.


Subject(s)
Abscess/microbiology , Anterior Chamber/microbiology , Endophthalmitis/microbiology , Keratomileusis, Laser In Situ , Listeria monocytogenes/isolation & purification , Listeriosis/microbiology , Postoperative Complications , Abscess/diagnosis , Abscess/drug therapy , Adult , Anterior Chamber/pathology , Anti-Bacterial Agents/therapeutic use , Endophthalmitis/diagnosis , Endophthalmitis/drug therapy , Humans , Lens Implantation, Intraocular , Listeriosis/diagnosis , Listeriosis/drug therapy , Male , Penicillin G/therapeutic use , Phacoemulsification
6.
Saudi J Ophthalmol ; 27(1): 1, 2013 Jan.
Article in English | MEDLINE | ID: mdl-23964178
7.
Saudi J Ophthalmol ; 26(1): 1-2, 2012 Jan.
Article in English | MEDLINE | ID: mdl-23960960
8.
Invest Ophthalmol Vis Sci ; 52(12): 9156-65, 2011 Nov 25.
Article in English | MEDLINE | ID: mdl-22025569

ABSTRACT

PURPOSE: To investigate the tear proteome profiles of human, cow, sheep, and camel comparatively and to explore the difference of tear protein profiles among different species. METHODS: Tears were collected from both eyes of 25 clinically healthy volunteers, 50 cows, 25 sheep, and 50 camels. Pooled tear protein samples were separated by SDS-PAGE and two-dimensional electrophoresis. Protein spots of differential expression were excised and subjected to in-gel digestion and identification by matrix assisted laser desorption/ionization-time-of-flight/time-of-flight mass spectrum analysis. Because of the incomplete genomic data of cow, sheep, and camel, a combined strategy of de novo sequencing and BLAST (Best Local Alignment Search Tool) homology searching was also used for protein identification. The differentially expressed proteins were validated by Western blot analysis. RESULTS: On comparison with human tears (182 ± 6 spots), 223 ± 8, 217 ± 11, and 241 ± 3 well-resolved protein spots were detected in triphenylmethane dye-stained gels of cow, sheep, and camel tears, respectively. Similar high-abundant proteins (lactoferrin, lysozyme, etc.) were found in all tear fluids. Tear lipocalins have been identified in cow and sheep tears. BLAST searching revealed a 21-kDa protein, identical with human vitelline membrane outer layer protein 1 (VMO1) homolog, in camel tears. The Western blot confirmed that VMO1 homolog was present in both camel and sheep tears but not in human and cow tears. CONCLUSIONS: The comparative proteomic analyses of tears from healthy humans, cows, sheep, and camels were first reported. Differential protein expression existed in the tear among species, offering useful information for further study on tear proteins and the related ocular diseases.


Subject(s)
Camelus , Eye Proteins/analysis , Proteome/analysis , Sheep , Tears/chemistry , Adult , Animals , Blotting, Western , Cattle , Electrophoresis, Gel, Two-Dimensional , Electrophoresis, Polyacrylamide Gel , Female , Humans , Male , Seasons , Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization , Tandem Mass Spectrometry
9.
Hum Mutat ; 32(12): 1450-9, 2011 Dec.
Article in English | MEDLINE | ID: mdl-21901789

ABSTRACT

It has been well documented that mutations in the same retinal disease gene can result in different clinical phenotypes due to difference in the mutant allele and/or genetic background. To evaluate this, a set of consanguineous patient families with Leber congenital amaurosis (LCA) that do not carry mutations in known LCA disease genes was characterized through homozygosity mapping followed by targeted exon/whole-exome sequencing to identify genetic variations. Among these families, a total of five putative disease-causing mutations, including four novel alleles, were found for six families. These five mutations are located in four genes, ALMS1, IQCB1, CNGA3, and MYO7A. Therefore, in our LCA collection from Saudi Arabia, three of the 37 unassigned families carry mutations in retinal disease genes ALMS1, CNGA3, and MYO7A, which have not been previously associated with LCA, and 3 of the 37 carry novel mutations in IQCB1, which has been recently associated with LCA. Together with other reports, our results emphasize that the molecular heterogeneity underlying LCA, and likely other retinal diseases, may be highly complex. Thus, to obtain accurate diagnosis and gain a complete picture of the disease, it is essential to sequence a larger set of retinal disease genes and combine the clinical phenotype with molecular diagnosis.


Subject(s)
Calmodulin-Binding Proteins/genetics , Cyclic Nucleotide-Gated Cation Channels/genetics , Exome/genetics , Leber Congenital Amaurosis/genetics , Mutation , Myosins/genetics , Proteins/genetics , Cell Cycle Proteins , Child, Preschool , Chromosome Mapping , Consanguinity , DNA Mutational Analysis , Family , Homozygote , Humans , Leber Congenital Amaurosis/pathology , Myosin VIIa , Pedigree , Saudi Arabia , Sequence Analysis, DNA
10.
Mol Vis ; 17: 323-31, 2011 Feb 01.
Article in English | MEDLINE | ID: mdl-21293736

ABSTRACT

PURPOSE: Proteins in the tear fluid have positive effects on maintaining the integrity and stabilization of the tear film, which is affected by several environmental factors. The aim of this study is to investigate seasonal variation of protein patterns in camel tears collected during the summer and winter season. METHODS: Tears from both eyes of 50 clinically normal camels (Camelus dromedarius) were collected in the summer (June-July) and in the winter (December-January) respectively. Pooled tear protein samples from two seasons were separated by SDS-PAGE and two-dimensional electrophoresis (2-DE). Protein spots of differential expression in two season gels were excised and subjected to in-gel digestion and identification by matrix assisted laser desorption/ionization-time of flight/time of flight-mass spectrum (MALDI-TOF/TOF-MS) analysis. Two differentially expressed proteins, lactoferrin (LF) and vitelline membrane outer layer protein 1 homolog (VMO1 homolog), were validated by western blotting. RESULTS: Thirteen well resolved bands were detected in SDS-PAGE gels of both summer and winter camel tears. By band densitometry, significantly higher intensities of band 6, 7, 11, and lower intensity of band 13 were observed in the summer group compared to the winter group. In 2-DE profiles of camel tears, four protein spots were found expressed differentially in two seasons. Further protein identification by MALDI-TOF/TOF-MS and confirmation by western blotting indicated that there was a significant decrease in LF (p=0.002) and an increase in VMO1 homolog (p=0.042) in tears in the summer compared to the winter. CONCLUSIONS: The seasonal variation of camel tear fluids has been found in the composition of proteins, including LF and VMO1 homolog. This result will expand our knowledge of physiologic characteristics of tear fluids and establish a foundation for the mechanistic studies and clinical practices on ocular surface disorders.


Subject(s)
Eye Proteins/metabolism , Tears/metabolism , Animals , Blotting, Western/methods , Camelus , Electrophoresis, Gel, Two-Dimensional/methods , Electrophoresis, Polyacrylamide Gel/methods , Gene Expression Profiling , Mass Spectrometry/methods , Proteome , Seasons , Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
11.
Mol Vis ; 17: 3529-40, 2011.
Article in English | MEDLINE | ID: mdl-22219648

ABSTRACT

PURPOSE: Leber congenital amaurosis (LCA) is one of the most severe eye dystrophies characterized by severe vision loss at an early stage and accounts for approximately 5% of all retinal dystrophies. The purpose of this study was to identify a novel LCA disease allele or gene and to develop an approach combining genetic mapping with whole exome sequencing. METHODS: Three patients from King Khaled Eye Specialist Hospital (KKESH205) underwent whole genome single nucleotide polymorphism genotyping, and a single candidate region was identified. Taking advantage of next-generation high-throughput DNA sequencing technologies, whole exome capture sequencing was performed on patient KKESH205#7. Sanger direct sequencing was used during the validation step. The zebrafish model was used to examine the function of the mutant allele. RESULTS: A novel missense mutation in Bardet-Biedl syndrome 4 protein (BBS4) was identified in a consanguineous family from Saudi Arabia. This missense mutation in the fifth exon (c.253G>C;p.E85Q) of BBS4 is likely a disease-causing mutation as it segregates with the disease. The mutation is not found in the single nucleotide polymorphism (SNP) database, the 1000 Genomes Project, or matching normal controls. Functional analysis of this mutation in zebrafish indicates that the G253C allele is pathogenic. Coinjection of the G253C allele cannot rescue the mislocalization of rhodopsin in the retina when BBS4 is knocked down by morpholino injection. Immunofluorescence analysis in cell culture shows that this missense mutation in BBS4 does not cause obvious defects in protein expression or pericentriolar localization. CONCLUSIONS: This mutation likely mainly reduces or abolishes BBS4 function in the retina. Further studies of this allele will provide important insights concerning the pleiotropic nature of BBS4 function.


Subject(s)
Leber Congenital Amaurosis/genetics , Mutation, Missense , Proteins/genetics , Retina/metabolism , Alleles , Animals , Base Sequence , Chromosome Mapping , Consanguinity , Exome , Exons , Female , Genotype , High-Throughput Nucleotide Sequencing , Humans , Infant , Leber Congenital Amaurosis/metabolism , Leber Congenital Amaurosis/pathology , Male , Microtubule-Associated Proteins , Molecular Sequence Data , Pedigree , Polymorphism, Single Nucleotide , Proteins/metabolism , Retina/pathology , Rhodopsin/metabolism , Saudi Arabia , Zebrafish
12.
Saudi J Ophthalmol ; 25(3): 231-8, 2011 Jul.
Article in English | MEDLINE | ID: mdl-23960930

ABSTRACT

PURPOSE: To review the clinical experience of fungal keratitis cases at King Khaled Eye Specialist Hospital (KKESH) in Riyadh, Saudi Arabia. METHODS: Retrospective observational review and analysis of 124 patient charts with confirmed diagnosis of fungal keratitis between 1984 and 2004. RESULTS: One hundred and twenty four eyes of 124 patients had proven fungal infection; 101 eyes had fungal keratitis and 23 eyes had fungal endophthalmitis complicating keratitis. Estimated proportion of fungal keratitis and endophthalmitis was 10.3%. Mean age was 55 years with male predominance (79.0%). Commonly associated factors were previous intraocular surgery (38.7%) and trauma (20.9%). Major risk factor for progressing to endophthalmitis was previous intraocular surgery (65.2%), p < 0.001. Initial laboratory results were fungal positive only in 30.6% (p < 0.001). Commonest organisms isolated were Aspergillus spp. (29.8%) followed by Trichophyton sp. (16.1%), then Candida and Fusarium sp. Comparison of both phases of the study showed improvement in the rate of successfully treated cases from 34.6% to 58.3%, and a decline in cases progressing to endophthalmitis from 25.0% to 13.9%. Therapeutic penetrating keratoplasty increased from 26.9% to 73.6% (p < 0.001). Thirteen eyes required enucleation or evisceration. CONCLUSIONS: In contrast to other studies on fungal keratitis, Aspergillusspp. and Trichophyton sp. were the most commonly isolated fungal pathogens; the former carries the worst prognosis. Risk factors included previous intraocular surgery and trauma. Poor outcome was associated with Aspergillus spp., delayed presentation, previous intraocular surgery and late surgical intervention. This study recommends early surgical intervention to improve the outcome.

13.
Int Ophthalmol ; 30(5): 501-9, 2010 Oct.
Article in English | MEDLINE | ID: mdl-20496098

ABSTRACT

To identify clinical features and prognostic factors in patients with Fuchs' uveitis (FU). All patients diagnosed with FU at King Khaled Eye Specialist Hospital between 1983 and 2005 were reviewed. Data collected included age, gender, initial and final visual acuities, clinical findings at presentation and during follow-up visits, interval between onset of symptoms and presentation to our institute, ocular complications, details of surgical procedures, and duration of follow-up. One hundred and sixty-six patients (174 eyes) were identified. There were 92 (55.4%) males and 74 (44.6%) females with a mean age of 35.2 ± 10.5 years (range 10-70 years). The mean follow-up period was 57.3 ± 96.7 months (range 1-146 months). The most common presenting symptom was decreased vision (79.9%). Characteristic keratic precipitates (90.2%), diffuse iris stromal atrophy (100%), heterochronmia (13.9%), iris nodules (13.8%), vitreous opacity (50%) (not including sparse vitreous infiltration), cataract (85.6%) and glaucoma (27.6%) were the major clinical findings. The following factors were significantly associated with final visual acuity of 20/40 or better by univariate analysis: shorter interval between onset of symptoms and presentation (p = 0.0087), good initial visual acuity of 20/40 or better (p = 0.0356), absence of glaucoma at presentation (p = 0.0264), no glaucoma surgery (p = 0.0035), and absence of glaucoma and cataract at last visit (p = 0.0126). Logistic regression analysis revealed that final visual acuity of 20/40 or better was negatively correlated with a longer interval between onset of symptoms and presentation (odds ratio (OD) 0.201; 95% confidence interval (CI) 0.0734-0.548), and glaucoma surgical intervention (OD 0.247; 95% CI 0.0796-0.766). Initial visual acuity of 20/40 or better was positively associated with final visual acuity of 20/40 or better (OD 3.34; 95% CI 1.13-9.90). A shorter interval between onset of symptoms and presentation to our institute, better initial visual acuity, and no glaucoma surgery were significantly associated with better final visual acuity.


Subject(s)
Uveitis/diagnosis , Adolescent , Adult , Aged , Child , Female , Humans , Intraocular Pressure , Male , Middle Aged , Prognosis , Uveitis/physiopathology , Visual Acuity , Young Adult
14.
Eur J Ophthalmol ; 19(5): 804-11, 2009.
Article in English | MEDLINE | ID: mdl-19787601

ABSTRACT

PURPOSE: To report the incidence, clinical features, causative organisms, and visual outcomes associated with delayed-onset pseudophakic endophthalmitis. METHODS: We retrospectively reviewed the clinical records and microbiology files of all patients with culture-proven endophthalmitis that was present 6 weeks or more after cataract extraction and posterior chamber intraocular lens (IOL) implantation who were treated at King Khaled Eye Specialist Hospital (KKESH) during a 10-year period. RESULTS: From January 1997 through December 2006, 17 patients with culture-proven, delayed-onset pseudophakic endophthalmitis were treated at KKESH. Of the 17 cases, only 5 cases developed delayed-onset endophthalmitis, among 29,509 cataract surgeries performed at KKESH, indicating an incidence rate of 0.017% (5/29,509). The mean time between cataract surgery and diagnosis of endophthalmitis was 5+/-2.48 months. The culture isolates revealed Propionibacterium acnes in 7 (41.2%) eyes, polymicrobial (mixed) infections in 3 (17.6%) eyes, Staphylococcus species in 3 (17.6 %) eyes, fungal infections in 3 (17.6%) eyes, and Alcaligenes xylosoxidans in 1 (5.9%) eye. The mean follow-up period was 29.8 months. The final visual outcomes were as follows: 7 eyes (41.2%) achieved a final best-corrected visual acuity of >or=20/60; 6 eyes (35.3%) achieved a best-corrected visual acuity of <20/60 to >or= count fingers; 2 eyes (11.8%) had hand motion to light perception vision; and 2 eyes (11.8%) were enucleated. CONCLUSIONS: In this study, infection by P acnes was the most common cause of delayed-onset pseudophakic endophthalmitis and had the most favorable visual outcome, whereas fungal endophthalmitis had the worst visual prognosis.


Subject(s)
Endophthalmitis , Eye Infections, Bacterial , Eye Infections, Fungal , Postoperative Complications , Visual Acuity/physiology , Adult , Aged , Aged, 80 and over , Bacteria/isolation & purification , Cataract Extraction , Endophthalmitis/diagnosis , Endophthalmitis/epidemiology , Endophthalmitis/microbiology , Eye Infections, Bacterial/diagnosis , Eye Infections, Bacterial/epidemiology , Eye Infections, Bacterial/microbiology , Eye Infections, Fungal/diagnosis , Eye Infections, Fungal/epidemiology , Eye Infections, Fungal/microbiology , Female , Follow-Up Studies , Humans , Incidence , Lens Implantation, Intraocular , Male , Middle Aged , Pseudophakia , Retrospective Studies
15.
In Vivo ; 23(5): 679-83, 2009.
Article in English | MEDLINE | ID: mdl-19779100

ABSTRACT

Acetylcholinesterase (AChE) and human herpesvirus type 8 (HHV-8) antigens were studied in tissue sections from 56 squamous cell carcinomas (SCC) and five retinoblastomas (Rb). Approximately 62.5% of SCC and 80% of Rb showed positive staining for AChE. AChE staining in tumors was much higher than in normal control tissue. However, only 21.4% of SCC and 60% of Rb contained HHV-8 antigens. Of the 56 SCC, 17.9% were positive for both AChE and HHV-8 antigens, whereas 60% Rb were positive for both markers. The co-existence of AChE and HHV-8 antigens may play a role in the development of SCC and Rb. A possible mechanism for the development of these tumors is discussed.


Subject(s)
Acetylcholinesterase/metabolism , Carcinoma, Squamous Cell/pathology , Herpesviridae Infections/pathology , Herpesvirus 8, Human/isolation & purification , Retinal Neoplasms/pathology , Retinoblastoma/pathology , Carcinoma, Squamous Cell/epidemiology , Carcinoma, Squamous Cell/virology , Comorbidity , Herpesviridae Infections/complications , Herpesviridae Infections/epidemiology , Herpesvirus 8, Human/physiology , Humans , Immunoenzyme Techniques , Retinal Neoplasms/epidemiology , Retinal Neoplasms/virology , Retinoblastoma/epidemiology , Retinoblastoma/virology , Saudi Arabia/epidemiology , Seroepidemiologic Studies
16.
Am J Hum Genet ; 84(3): 380-7, 2009 Mar.
Article in English | MEDLINE | ID: mdl-19268277

ABSTRACT

Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are the most common hereditary causes of visual impairment in infants and children. Using homozygosity mapping, we narrowed down the critical region of the LCA3 locus to 3.8 Mb between markers D14S1022 and D14S1005. By direct Sanger sequencing of all genes within this region, we found a homozygous nonsense mutation in the SPATA7 gene in Saudi Arabian family KKESH-060. Three other loss-of-function mutations were subsequently discovered in patients with LCA or juvenile RP from distinct populations. Furthermore, we determined that Spata7 is expressed in the mature mouse retina. Our findings reveal another human visual-disease gene that causes LCA and juvenile RP.


Subject(s)
DNA-Binding Proteins/genetics , Retinal Diseases/genetics , Animals , Child , Codon, Nonsense , DNA-Binding Proteins/metabolism , Homozygote , Humans , Mice , Middle Aged , Pedigree , Retina/growth & development , Retina/metabolism , Retinal Diseases/congenital , Retinitis Pigmentosa/genetics
17.
J Cataract Refract Surg ; 35(4): 643-9, 2009 Apr.
Article in English | MEDLINE | ID: mdl-19304084

ABSTRACT

PURPOSE: To estimate the incidence of acute-onset endophthalmitis after cataract surgery and to report its clinical features, microbiology, and final visual outcomes. SETTING: King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. METHODS: This was a retrospective observational case series. RESULTS: The 10-year incidence of acute-onset endophthalmitis after cataract surgery was 0.068%: 0.049% for extracapsular cataract extraction (ECCE) and 0.085% for clear corneal phacoemulsification (P = .268). The incidence of endophthalmitis was 0.053% during the first 5 years of the study and 0.08% during the next 5 years. The most common presenting features were pain and poor red reflex. Of the 20 cases, 18 were culture positive. The culture isolates showed Staphylococcus species in 7 eyes (35%), Streptococcus species in 7 eyes (35%), polymicrobial or mixed infections in 3 eyes (15%), and Propionibacterium acnes in 1 eye (5%). Two patients (10%) achieved a final visual acuity of 20/40 or better, 5 (25%) had worse than 20/40 to better than 20/200, and 8 (40%) had worse than 20/200; 5 eyes (25%) were eviscerated. Visual outcomes were good in endophthalmitis cases after phacoemulsification and in cases caused by Staphylococcus epidermidis and worse in cases that had Streptococcus species endophthalmitis. CONCLUSIONS: Clear corneal phacoemulsification had a 1.73-fold higher risk for acute endophthalmitis than ECCE. Although the incidence of endophthalmitis after ECCE was lower than after phacoemulsification, the outcome was much worse in post-ECCE endophthalmitis cases. Poor visual outcomes were associated with more virulent organisms and delayed presentation.


Subject(s)
Bacteria/isolation & purification , Cataract Extraction , Cross Infection/microbiology , Endophthalmitis/microbiology , Eye Infections, Bacterial/microbiology , Visual Acuity/physiology , Acute Disease , Aged , Aged, 80 and over , Anti-Bacterial Agents/therapeutic use , Cross Infection/diagnosis , Cross Infection/drug therapy , Endophthalmitis/diagnosis , Endophthalmitis/drug therapy , Eye Infections, Bacterial/diagnosis , Eye Infections, Bacterial/drug therapy , Female , Humans , Incidence , Lens Implantation, Intraocular , Male , Middle Aged , Postoperative Complications , Retrospective Studies
18.
Cornea ; 27(5): 535-8, 2008 Jun.
Article in English | MEDLINE | ID: mdl-18520501

ABSTRACT

PURPOSE: To compare central corneal endothelium cell density and morphology in eyes with keratoconus and unilateral resolved hydrops with the unaffected fellow eye. METHODS: Bilateral confocal microscopy was performed 3 months after resolution of acute unilateral hydrops in patients with keratoconus who presented to the King Khaled Eye Specialist Hospital between February 1, 2004, and November 31, 2005. RESULTS: Twenty-six patients (19 men and 7 women) with a mean age of 22 years (range, 11-36 years) were enrolled in the study. A history of ocular allergy or rigid gas-permeable hard contact lens wear was present in 14 and 12 patients, respectively. The mean interval to resolution of hydrops was 12 weeks (range, 9-14 weeks), after which neovascularization was present in 8 eyes. The mean endothelial cell density in affected and unaffected eyes was virtually identical (2759 vs. 2788 cells/mm2, respectively; P = 0.82), although 5 (19.2%) affected eyes did have endothelial cell density that was >15% less than that of the unaffected fellow eye. Compared with unaffected eyes, there was a mean increase polymegathism in affected eyes from 33% to 35% and a mean decrease in hexagonality from 60% to 55%, but these differences were not statistically significant (P = 0.11 and 0.06, respectively). CONCLUSIONS: Decreased endothelial cell density is uncommon after resolution of acute hydrops, although morphologic changes may be present in a majority of cases.


Subject(s)
Corneal Edema/etiology , Endothelium, Corneal/pathology , Keratoconus/complications , Acute Disease , Adolescent , Adult , Cell Count , Child , Corneal Edema/physiopathology , Female , Humans , Male , Microscopy, Confocal
19.
Cornea ; 27(4): 504-6, 2008 May.
Article in English | MEDLINE | ID: mdl-18434859

ABSTRACT

PURPOSE: To report 6 eyes of 5 patients with transient corneal edema after exposure to the milky latex of Calotropis procera (ushaar). METHODS: Interventional case series. RESULTS: Intracorneal penetration of ushaar latex can lead to permanent endothelial cell loss with morphologic alteration. Corneal edema resolved completely in approximately 2 weeks in all cases, despite reduced endothelial cell count and abnormal morphology. CONCLUSIONS: Corneal endothelial toxicity of ushaar latex is caused by its ability to penetrate the corneal stroma and induce permanent loss of endothelial cells. Corneal edema resolves if sufficient endothelial cell viability is still present after resolution of ushaar keratitis.


Subject(s)
Calotropis/adverse effects , Corneal Edema/chemically induced , Endothelium, Corneal/drug effects , Latex/adverse effects , Plant Extracts/adverse effects , Adult , Aged , Cell Count , Corneal Edema/drug therapy , Corneal Edema/pathology , Endothelium, Corneal/pathology , Female , Glucocorticoids/therapeutic use , Humans , Male , Microscopy, Confocal , Visual Acuity
20.
Curr Eye Res ; 32(6): 575-84, 2007 Jun.
Article in English | MEDLINE | ID: mdl-17612973

ABSTRACT

PURPOSE: To determine the efficacy of L-carnitine (LC) against oxidative changes in human retinal pigment epithelium (RPE) cells. METHODS: The RPE cells from human donor eyes were cultured in Hams F-10 medium. The effect of LC on H2O2-induced morphologic changes in the RPE cells was analyzed by light microscopy. Reduction in cell death after the impact of LC treatment on H2O2-treated cells was analyzed by MTT [3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide] assays. In addition, the effect of H2O2 on the activity of RPE-antioxidant enzymes, glutathione (GSH) and superoxide dismutase (SOD), and LC-induced protection was also determined. RESULTS: LC protected the RPE cells by inhibiting the peroxide-induced cytopathic effect from 50% to 10%. Nuclear condensation observed in 40% of the H2O2-treated cells decreased to 20% after LC treatment. The MTT assays demonstrated that 100 microM oxidant caused appreciable cell death, which was reduced by LC treatment; however, 100% protection was not achieved. Significant peroxide-induced cell death was seen within 5 hr of H2O2 treatment, and a quantifiable reduction was observed after LC treatment for a similar time period. The change in the antioxidant potential of the RPE induced by oxidative stress was restored by LC treatment, as demonstrated by an increase in GSH and SOD activities. CONCLUSIONS: LC is capable of protecting the RPE cells from H2O2-induced oxidative damage, implying that micronutrients can have a positive effect and can play an important role in the treatment of oxidation-induced ocular disorders. Further studies are needed to understand the mechanism of LC-induced protection to the RPE cells.


Subject(s)
Carnitine/pharmacology , Hydrogen Peroxide/toxicity , Oxidants/toxicity , Oxidative Stress , Pigment Epithelium of Eye/drug effects , Vitamin B Complex/pharmacology , Adult , Cell Survival , Cells, Cultured , Cytoprotection/drug effects , Formazans , Glutathione/metabolism , Humans , Middle Aged , Pigment Epithelium of Eye/enzymology , Pigment Epithelium of Eye/pathology , Superoxide Dismutase/metabolism , Tetrazolium Salts
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