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Article ; Online: Congenital glaucoma and CYP1B1: an old story revisited.

Alsaif, Hessa S / Khan, Arif O / Patel, Nisha / Alkuraya, Hisham / Hashem, Mais / Abdulwahab, Firdous / Ibrahim, Niema / Aldahmesh, Mohammed A / Alkuraya, Fowzan S

Human genetics

2018 Volume 138, Issue 8-9, Page(s) 1043–1049

Abstract: Primary congenital glaucoma is a trabecular meshwork dysgenesis with resultant increased intraocular pressure and ocular damage. CYP1B1 mutations remain the most common identifiable genetic cause. However, important questions about the penetrance of ... ...

Abstract	Primary congenital glaucoma is a trabecular meshwork dysgenesis with resultant increased intraocular pressure and ocular damage. CYP1B1 mutations remain the most common identifiable genetic cause. However, important questions about the penetrance of CYP1B1-related congenital glaucoma remain unanswered. Furthermore, mutations in other genes have been described although their exact contribution and potential genetic interaction, if any, with CYP1B1 mutations are not fully explored. In this study, we employed modern genomic approaches to re-examine CYP1B1-related congenital glaucoma. A cohort of 193 patients (136 families) diagnosed with congenital glaucoma. We identified biallelic CYP1B1 mutations in 80.8% (87.5 and 66.1% in familial and sporadic cases, respectively, p < 0.0086). The large family size of the study population allowed us to systematically examine penetrance of all identified alleles. With the exception of c.1103G>A (p.R368H), previously reported pathogenic mutations were highly penetrant (91.2%). We conclude from the very low penetrance and genetic epidemiological analyses that c.1103G>A (p.R368H) is unlikely to be a disease-causing recessive mutation in congenital glaucoma as previously reported. All cases that lacked biallelic CYP1B1 mutations underwent whole exome sequencing. No mutations in LTBP2, MYOC or TEK were encountered. On the other hand, mutations were identified in genes linked to other ophthalmic phenotypes, some inclusive of glaucoma, highlighting conditions that might phenotypically overlap with primary congenital glaucoma (SLC4A4, SLC4A11, CPAMD8, and KERA). We also encountered candidate causal variants in genes not previously linked to human diseases: BCO2, TULP2, and DGKQ. Our results both expand and refine the genetic spectrum of congenital glaucoma with important clinical implications.
MeSH term(s)	Alleles ; Anion Transport Proteins/genetics ; Cohort Studies ; Cytochrome P-450 CYP1B1/genetics ; Cytoskeletal Proteins/genetics ; DNA Mutational Analysis/methods ; Eye Proteins/genetics ; Female ; Genetic Testing/methods ; Glaucoma/genetics ; Glycoproteins/genetics ; Humans ; Intraocular Pressure/genetics ; Latent TGF-beta Binding Proteins/genetics ; Male ; Mutation/genetics ; Pedigree ; Penetrance ; Phenotype ; Receptor, TIE-2/genetics ; alpha-Macroglobulins/genetics
Chemical Substances	Anion Transport Proteins ; Cytoskeletal Proteins ; Eye Proteins ; Glycoproteins ; Latent TGF-beta Binding Proteins ; alpha-Macroglobulins ; trabecular meshwork-induced glucocorticoid response protein ; CYP1B1 protein, human (EC 1.14.14.1) ; Cytochrome P-450 CYP1B1 (EC 1.14.14.1) ; Receptor, TIE-2 (EC 2.7.10.1)
Language	English
Publishing date	2018-03-19
Publishing country	Germany
Document type	Journal Article
ZDB-ID	223009-4
ISSN	1432-1203 ; 0340-6717
ISSN (online)	1432-1203
ISSN	0340-6717
DOI	10.1007/s00439-018-1878-z
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Article ; Online: Further delineation of HIDEA syndrome.

Maddirevula, Sateesh / Ben-Omran, Tawfeg / AlMureikhi, Mariam / Eyaid, Wafa / Arabi, Hisham / Alkuraya, Hisham / Alfaifi, Abdullah / Alfalah, Abdullah Hamed / Alsaif, Hessa S / Abdulwahab, Firdous / Alfadhel, Majid / Alkuraya, Fowzan S

American journal of medical genetics. Part A

2020 Volume 182, Issue 12, Page(s) 2999–3006

Abstract: Recently, the genetic cause of HIDEA syndrome (hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities) was identified as biallelic pathogenic variants in P4HTM, which encodes an atypical member of the prolyl 4- ... ...

Abstract	Recently, the genetic cause of HIDEA syndrome (hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities) was identified as biallelic pathogenic variants in P4HTM, which encodes an atypical member of the prolyl 4-hydroxylases (P4Hs) family of enzymes. We report seven patients from four new families in whom HIDEA was only diagnosed after whole-exome sequencing (WES) revealed novel disease-causing variants in P4HTM. We note the variable phenotypic expressivity of the syndrome except for cognitive impairment/developmental delay, and hypotonia, which seem to be consistent findings. One patient only presented with hypotonia, developmental delay, and abnormal eye movements, which highlights the challenge in diagnosing milder cases with this new syndrome. Other notable features include mild facial dysmorphism, obesity, and brain dysmyelination and atrophy. We conclude that HIDEA is a highly variable syndrome and suspect that a large fraction of patients will be diagnosed via reverse phenotyping after recessive P4HTM variants are identified by agnostic genomic sequencing assays.
MeSH term(s)	Child ; Child, Preschool ; Developmental Disabilities ; Epilepsy/genetics ; Epilepsy/pathology ; Eye Abnormalities/genetics ; Eye Abnormalities/pathology ; Female ; Humans ; Hypoventilation/genetics ; Hypoventilation/pathology ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Male ; Muscle Hypotonia/genetics ; Muscle Hypotonia/pathology ; Mutation ; Pedigree ; Phenotype ; Prolyl Hydroxylases/genetics ; Syndrome
Chemical Substances	Prolyl Hydroxylases (EC 1.14.11.-)
Language	English
Publishing date	2020-09-23
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.61885
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Article ; Online: Argon Laser Photoablation for Treating Benign Pigmented Conjunctival Nevi.

Alsharif, Abdulrahman M / Al-Gehedan, Saeed M / Alasbali, Tariq / Alkuraya, Hisham S / Lotfy, Nancy M / Khandekar, Rajiv

Middle East African journal of ophthalmology

2016 Volume 23, Issue 3, Page(s) 247–249

Abstract: 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. ... ...

Abstract	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 presentation, argon laser photoablation, and follow-up at 8 and 24 weeks. Postoperative photography allowed recording of the success of each case and the overall success rate. Complete removal of conjunctival pigments was considered an absolute success. Partial pigmentation requiring repeat laser treatment was considered a qualified success. Results: There were 14 eyes (four right eyes and ten left eyes) with benign pigmented conjunctival nevi. There were three males and eight females in the study sample. The median age was 36 (25% percentile: 26 years). Three patients had bilateral lesions. The nevi were located temporally in nine eyes, nasally in three eyes, and on the inferior bulbar conjunctiva in two eyes. The mean horizontal and vertical diameters of nevi were 5 ± 2 mm and 4 ± 2.7 mm, respectively. The mean follow-up period was 5 months. Following laser treatment, no eyes had subconjunctival hemorrhage, infection, scarring, neovascularization, recurrence, or corneal damage. The absolute success rate of laser ablation was 79%. Three eyes with elevated nevi had one to three sessions of laser ablation resulting in a qualified success rate of 100%. Conclusions: Argon laser ablation was a safe and effective treatment for the treatment of selective benign pigmented conjunctival nevi in Arab patients.
MeSH term(s)	Adult ; Argon Plasma Coagulation/methods ; Conjunctiva/pathology ; Conjunctival Neoplasms/pathology ; Conjunctival Neoplasms/surgery ; Female ; Follow-Up Studies ; Humans ; Male ; Neoplasm Recurrence, Local/pathology ; Neoplasm Recurrence, Local/surgery ; Nevus, Pigmented/surgery ; Postoperative Complications ; Retrospective Studies ; Treatment Outcome
Language	English
Publishing date	2016-07
Publishing country	India
Document type	Journal Article
ZDB-ID	2545467-5
ISSN	0975-1599 ; 0974-9233
ISSN (online)	0975-1599
ISSN	0974-9233
DOI	10.4103/0974-9233.186098
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Article ; Online: Lack of Correlation Between Diabetic Macular Edema and Thickness of the Peripapillary Retinal Nerve Fibre Layer.

Alkuraya, Hisham S / Al-Gehedan, Saeed M / Alsharif, Abdulrahman M / Alasbali, Tariq / Lotfy, Nancy M / Khandekar, Rajiv

Middle East African journal of ophthalmology

2016 Volume 23, Issue 3, Page(s) 241–246

Abstract: 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 ... ...

Abstract	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 healthy (nondiabetic) patients (control group). Measurements were performed in different/the four peripapillary quadrants and in the macula region for the fovea, parafoveal, and perifoveal areas. The mean RNFL thickness was compared between both groups. Results: There were fifty eyes of fifty nonglaucomatous diabetic patients with DME (29 with nonproliferative diabetic retinopathy [PDR] and 21 with PDR), and fifty eyes in the control group. The macular regions were significantly thicker in the DME group compared to the control group. The central foveal thickness was 149 μ thicker in eyes with DME compared to the control group (P < 0.001). The difference in total RNFL thickness between groups was not significant (4.4 μ [95% confidence interval: -3.1 to +12]). The between-group differences in peripapillary RNFL thickness by age group, glycemic control, history of intravitreal treatments, and refractive errors were not statistically significant (P > 0.05, all comparisons). Conclusion: Peripapillary RNFL thickness measurements were not significantly influenced by DME. Hence, OCT parameters could be used to monitor/early detect glaucomatous eyes even in the presence of DME.
MeSH term(s)	Adult ; Aged ; Cross-Sectional Studies ; Diabetic Retinopathy/diagnosis ; Female ; Healthy Volunteers ; Humans ; Macular Edema/diagnosis ; Male ; Middle Aged ; Nerve Fibers/pathology ; Retinal Ganglion Cells/pathology ; Tomography, Optical Coherence/methods ; Visual Acuity
Language	English
Publishing date	2016-07
Publishing country	India
Document type	Journal Article
ZDB-ID	2545467-5
ISSN	0975-1599 ; 0974-9233
ISSN (online)	0975-1599
ISSN	0974-9233
DOI	10.4103/0974-9233.186097
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Article ; Online: Cataract Surgery Audit at a Private Hospital in Saudi Arabia.

Alasbali, Tariq / Lofty, Nancy Maher / Al-Gehaban, Saeed / Alkuraya, Hisham S / Alsharif, Abdulrahman M / Khandekar, Rajiv

Middle East African journal of ophthalmology

2015 Volume 22, Issue 4, Page(s) 502–507

Abstract: Background: To assess the visual outcomes following cataract surgeries at a Private Eye Hospital in Riyadh, Saudi Arabia.: Methods: This was a cohort study of cataract surgeries performed from January to June 2014. Preoperative data were collected on ...

Abstract	Background: To assess the visual outcomes following cataract surgeries at a Private Eye Hospital in Riyadh, Saudi Arabia. Methods: This was a cohort study of cataract surgeries performed from January to June 2014. Preoperative data were collected on patient demographics presenting and best corrected distance visual acuity (BCVA) and ocular comorbidity. Data were also collected on the type of surgery, type of intraocular lens (IOLs) implanted, and complications. BCVA and refractive status at 6-8 weeks postoperatively were noted. The predictors of vision ≥ 6/18 were identified. Results: Four hundred eyes of 400 patients underwent cataract surgery. There were 235 (59%) males. Presenting preoperative vision was < 6/60 in 52 (13%) eyes. There were 395 (99%) eyes that underwent IOL implantation following phacoemulsification and 4 eyes received a sulcus fixated IOL. A single piece aspheric IOL was implanted in 358 (90%) eyes and a toric IOL was implanted in 31 (8%) eyes. Postoperative BCVA was classified as a "good outcome" (≥ 6/18) in 320 (80%) and a "poor outcome" (< 6/60) in 24 (6%) eyes. Young age (adjusted odds ratio (OR) = 0.97, P = 0.01), male (adjusted OR = 2.4, P = 0.002), and ocular co-morbidities (adjusted OR = 0.2, P < 0.001) were predictors of vision ≥ 6/18. Complications included a dropped nucleus and a posterior capsular tear in 2 eyes each. Two hundred and fifty-two (63%) eyes were emmetropic or intentionally myopic for distance. Astigmatism < 2 D was present in 264 (66%) eyes and astigmatism > 2 D was present in 33 (8%) eyes. Conclusion: The recent trend of intentional overcorrection in one eye following modern cataract surgery in order to provide some functional near vision indicates that benchmark for success in getting "good visual outcomes" postoperatively (vision of ≥ 6/18) may need to be revised.
MeSH term(s)	Aged ; Astigmatism/surgery ; Cataract/complications ; Cohort Studies ; Female ; Hospitals, Private ; Humans ; Lens Implantation, Intraocular/statistics & numerical data ; Male ; Medical Audit/statistics & numerical data ; Middle Aged ; Phacoemulsification/statistics & numerical data ; Saudi Arabia ; Visual Acuity/physiology
Language	English
Publishing date	2015-10
Publishing country	India
Document type	Journal Article
ZDB-ID	2545467-5
ISSN	0975-1599 ; 0974-9233
ISSN (online)	0975-1599
ISSN	0974-9233
DOI	10.4103/0974-9233.167820
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Article ; Online: Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.

AlAbdi, Lama / Shamseldin, Hanan E / Khouj, Ebtissal / Helaby, Rana / Aljamal, Bayan / Alqahtani, Mashael / Almulhim, Aisha / Hamid, Halima / Hashem, Mais O / Abdulwahab, Firdous / Abouyousef, Omar / Jaafar, Amal / Alshidi, Tarfa / Al-Owain, Mohammed / Alhashem, Amal / Al Tala, Saeed / Khan, Arif O / Mardawi, Elham / Alkuraya, Hisham /

Genome medicine

2023 Volume 15, Issue 1, Page(s) 114

Abstract: Background: Long-read whole genome sequencing (lrWGS) has the potential to address the technical limitations of exome sequencing in ways not possible by short-read WGS. However, its utility in autosomal recessive Mendelian diseases is largely unknown.!## ...

Abstract	Background: Long-read whole genome sequencing (lrWGS) has the potential to address the technical limitations of exome sequencing in ways not possible by short-read WGS. However, its utility in autosomal recessive Mendelian diseases is largely unknown. Methods: In a cohort of 34 families in which the suspected autosomal recessive diseases remained undiagnosed by exome sequencing, lrWGS was performed on the Pacific Bioscience Sequel IIe platform. Results: Likely causal variants were identified in 13 (38%) of the cohort. These include (1) a homozygous splicing SV in TYMS as a novel candidate gene for lethal neonatal lactic acidosis, (2) a homozygous non-coding SV that we propose impacts STK25 expression and causes a novel neurodevelopmental disorder, (3) a compound heterozygous SV in RP1L1 with complex inheritance pattern in a family with inherited retinal disease, (4) homozygous deep intronic variants in LEMD2 and SNAP91 as novel candidate genes for neurodevelopmental disorders in two families, and (5) a promoter SNV in SLC4A4 causing non-syndromic band keratopathy. Surprisingly, we also encountered causal variants that could have been identified by short-read exome sequencing in 7 families. The latter highlight scenarios that are especially challenging at the interpretation level. Conclusions: Our data highlight the continued need to address the interpretation challenges in parallel with efforts to improve the sequencing technology itself. We propose a path forward for the implementation of lrWGS sequencing in the setting of autosomal recessive diseases in a way that maximizes its utility.
MeSH term(s)	Infant, Newborn ; Humans ; Exome ; Genes, Recessive ; Mutation ; Inheritance Patterns ; Exome Sequencing ; Pedigree ; Eye Proteins/genetics ; Membrane Proteins/genetics ; Nuclear Proteins/genetics ; Protein Serine-Threonine Kinases/genetics ; Intracellular Signaling Peptides and Proteins/genetics
Chemical Substances	RP1L1 protein, human ; Eye Proteins ; LEMD2 protein, human ; Membrane Proteins ; Nuclear Proteins ; STK25 protein, human (EC 2.7.11.1) ; Protein Serine-Threonine Kinases (EC 2.7.11.1) ; Intracellular Signaling Peptides and Proteins
Language	English
Publishing date	2023-12-14
Publishing country	England
Document type	Journal Article
ZDB-ID	2484394-5
ISSN	1756-994X ; 1756-994X
ISSN (online)	1756-994X
ISSN	1756-994X
DOI	10.1186/s13073-023-01270-8
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Article ; Online: Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome.

Clinical genetics

2019 Volume 97, Issue 3, Page(s) 447–456

Abstract: Retinal arterial macroaneurysms with supravalvular pulmonic stenosis (RAMSVPS), also known as Familial Retinal Arterial Macroaneurysms (FRAM) syndrome, is a very rare multisystem disorder. Here, we present a case series comprising ophthalmologic and ... ...

Abstract	Retinal arterial macroaneurysms with supravalvular pulmonic stenosis (RAMSVPS), also known as Familial Retinal Arterial Macroaneurysms (FRAM) syndrome, is a very rare multisystem disorder. Here, we present a case series comprising ophthalmologic and systemic evaluation of patients homozygous for RAMSVPS syndrome causative IGFBP7 variant. New clinical details on 22 previously published and 8 previously unpublished patients are described. Age at first presentation ranged from 1 to 34 years. The classical feature of macroaneurysms and vascular beading involving the retinal arteries was universal. Follow up extending up to 14 years after initial diagnosis revealed recurrent episodes of bleeding and leakage from macroaneurysms in 55% and 59% of patients, respectively. The majority of patients who underwent echocardiography (18/23) showed evidence of heart involvement, most characteristically pulmonary (valvular or supravalvular) stenosis, often requiring surgical correction (12/18). Four patients died in the course of the study from complications of pulmonary stenosis, cerebral hemorrhage, and cardiac complications. Liver involvement (usually cirrhosis) was observed in eight patients. Cerebral vascular involvement was observed in one patient, and stroke was observed in two. We conclude that RAMSVPS is a recognizable syndrome characterized by a high burden of ocular and systemic morbidity, and risk of premature death. Recommendations are proposed for early detection and management of these complications.
MeSH term(s)	Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Fluorescein Angiography ; Fundus Oculi ; Genetic Predisposition to Disease ; Homozygote ; Humans ; Infant ; Insulin-Like Growth Factor Binding Proteins/genetics ; Male ; Pulmonary Valve Stenosis/complications ; Pulmonary Valve Stenosis/diagnostic imaging ; Pulmonary Valve Stenosis/genetics ; Pulmonary Valve Stenosis/pathology ; Retinal Arterial Macroaneurysm/complications ; Retinal Arterial Macroaneurysm/diagnostic imaging ; Retinal Arterial Macroaneurysm/genetics ; Retinal Arterial Macroaneurysm/pathology ; Retinal Artery/diagnostic imaging ; Retinal Artery/metabolism ; Retinal Artery/pathology ; Visual Acuity/genetics ; Visual Acuity/physiology ; Young Adult
Chemical Substances	Insulin-Like Growth Factor Binding Proteins ; insulin-like growth factor binding protein-related protein 1
Language	English
Publishing date	2019-12-02
Publishing country	Denmark
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/cge.13676
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Article: The correlation between optical coherence tomographic features and severity of retinopathy, macular thickness and visual acuity in diabetic macular edema.

Alkuraya, Hisham / Kangave, Dustan / Abu El-Asrar, Ahmed M

International ophthalmology

2005 Volume 26, Issue 3, Page(s) 93–99

Abstract: Purpose: To investigate the correlation between the features of optical coherence tomography (OCT) and the severity of concurrent retinopathy, central macular thickness (CMT), and best-corrected visual acuity in clinically significant diabetic macular ... ...

Abstract	Purpose: To investigate the correlation between the features of optical coherence tomography (OCT) and the severity of concurrent retinopathy, central macular thickness (CMT), and best-corrected visual acuity in clinically significant diabetic macular edema. Methods: In a prospective study, OCT was performed in 55 eyes of 55 patients with clinically significant diabetic macular edema, in 58 eyes of 30 patients with diabetes without retinopathy, and in 40 eyes of 21 healthy control subjects. The OCT features were categorized into: type 1, sponge-like retinal swelling; type 2, cystoid macular edema; type 3, serous retinal detachment; and type 4, vitreofoveal traction. Results: The CMT in eyes with diabetic macular edema was significantly higher than in eyes of healthy controls or in eyes of diabetic patients without retinopathy (P < 0.001). Visual acuity correlated with CMT in diabetic macular edema (r = 0.558, P < 0.001). The prevalence of OCT type 1 was significantly higher in eyes with mild-to-moderate non-proliferative retinopathy (NPDR) than in eyes with severe NPDR to proliferative retinopathy (PDR) (P = 0.0069). The prevalence of OCT types 3 and 4 was significantly higher in eyes with severe NPDR to PDR than in eyes with mild-to-moderate NPDR (P = 0.0056). OCT type 1 showed the least CMT (P < 0.001) and the best visual acuity (P = 0.002). Conclusions: There was a significant correlation between OCT patterns of clinically significant diabetic macular edema and severity of retinopathy, CMT, and visual acuity.
MeSH term(s)	Adult ; Aged ; Diabetic Retinopathy/complications ; Diabetic Retinopathy/pathology ; Diabetic Retinopathy/physiopathology ; Female ; Follow-Up Studies ; Humans ; Macula Lutea/pathology ; Macular Edema/etiology ; Macular Edema/pathology ; Macular Edema/physiopathology ; Male ; Middle Aged ; Prognosis ; Prospective Studies ; Severity of Illness Index ; Tomography, Optical Coherence ; Visual Acuity/physiology
Language	English
Publishing date	2005-06
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	800087-6
ISSN	1573-2630 ; 0165-5701
ISSN (online)	1573-2630
ISSN	0165-5701
DOI	10.1007/s10792-006-9007-8
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Article ; Online: The morbid genome of ciliopathies: an update.

Shamseldin, Hanan E / Shaheen, Ranad / Ewida, Nour / Bubshait, Dalal K / Alkuraya, Hisham / Almardawi, Elham / Howaidi, Ali / Sabr, Yasser / Abdalla, Ebtesam M / Alfaifi, Abdullah Y / Mohammed Alghamdi, Jameel / Alsagheir, Afaf / Alfares, Ahmed / Morsy, Heba / Hussein, Maged H / Al-Muhaizea, Mohammad A / Shagrani, Mohammad / Al Sabban, Essam / Salih, Mustafa A /

Genetics in medicine : official journal of the American College of Medical Genetics

2022 Volume 24, Issue 4, Page(s) 966

Language	English
Publishing date	2022-04-08
Publishing country	United States
Document type	Journal Article ; Published Erratum
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1016/j.gim.2022.01.019
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Article: Ocular manifestations in Kabuki syndrome: the first report from Saudi Arabia.

Chaudhry, Imtiaz A / Shamsi, Farrukh A / Alkuraya, Hisham S / Al-Sharif, Abdulrahman

International ophthalmology

2008 Volume 28, Issue 2, Page(s) 131–134

Abstract: Background: Kabuki syndrome (KS) is a multiple congenital anomaly syndrome in which ophthalmological examination for the early detection of ocular abnormalities is desired in order to prevent visual impairment.: Case: Retrospective, interventional, ... ...

Abstract	Background: Kabuki syndrome (KS) is a multiple congenital anomaly syndrome in which ophthalmological examination for the early detection of ocular abnormalities is desired in order to prevent visual impairment. Case: Retrospective, interventional, case report of a 5-year-old female patient of Arabic origin with features of Kabuki syndrome. Observation: Patient had neurological deficit, psychomotor retardation, a peculiar face, including large prominent cup shaped ears, broad depressed nasal tip, and high arched palate, and malformed teeth. Her ocular features suggestive of Kabuki syndrome included left upper eyelid congenital ptosis, lagophthalmos, arched eyebrows with temporal sparing of hair, long horizontal palpebral fissures, lateral lower eyelid eversion and resultant epiphora. Other abnormalities included medial lower epicanthal folds, abduction deficit bilaterally, large esotropia, significant hyperopia, right corneal opacity, iris and chorioretinal coloboma. Patient required hyperopic correction and ptosis surgery, which improved her visual functioning. Conclusions: We report the first case of a Kabuki syndrome patient from Saudi Arabia and stress on the importance of ophthalmological examination in all patients with KS for the early detection of ocular anomalies in order to prevent visual impairment.
MeSH term(s)	Abnormalities, Multiple ; Child, Preschool ; Eye Abnormalities ; Face ; Female ; Humans ; Intellectual Disability ; Syndrome
Language	English
Publishing date	2008-04
Publishing country	Netherlands
Document type	Case Reports ; Journal Article
ZDB-ID	800087-6
ISSN	1573-2630 ; 0165-5701
ISSN (online)	1573-2630
ISSN	0165-5701
DOI	10.1007/s10792-007-9118-x
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