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    GAPO syndrome: Four new patients with congenital glaucoma and myelinated retinal nerve fiber layer
    (WILEY, 2013) Bozkurt, Banu; Yildirim, Mahmut Selman; Okka, Mehmet; Bitirgen, Gulfidan
    This article reports on the ophthalmological features of four Turkish children with GAPO syndrome, a very rare autosomal recessive condition characterized by growth retardation (G), alopecia (A), pseudoanodontia (P) (failure of tooth eruption), and optic atrophy (O). The children were from two unrelated families born to consanguineous parents. They had the characteristic facial appearance of alopecia, rarefaction of eyebrows and eyelashes, frontal bossing, high forehead, midfacial hypoplasia, hypertelorism, and thickened eyelids and lips. Two children had severe end-stage glaucoma in both eyes and unilateral corneal opacity, whereas other two children had myelinated retinal nerve fiber layer; one with bilateral optic atrophy and the other one with persistent pupillary membrane in the left eye. (c) 2013 Wiley Periodicals, Inc.
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    Hypogammaglobulinemia and Silver-Russell Phenotype Associated With Partial Trisomy 7q and Partial Monosomy 21q
    (WILEY-LISS, 2009) Artac, Hasibe; Reisli, Ismail; Yildirim, Mahmut Selman; Bagci, Gulseren; Luleci, Guven; Hosgor, Orhan; Karaaslan, Sevim
    [Abstract not Available]
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    Inspection of Endothelial Nitric Oxide Synthase Gene Polymorphism in Patients With Henoch Schonlein Purpura
    (TURKISH LEAGUE AGAINST RHEUMATISM, 2014) Somuncu, Makbule Nihan; Yildirim, Mahmut Selman; Zamani, Aysegul; Peru, Harun
    Objectives: This study aims to investigate the effect of Glu298Asp polymorphism, which is observed at endothelial nitric oxide synthase isoform particularly, having a significant impact on endothelial functions of nitric oxide synthase gene and on vascular system in patients with Henoch Schonlein purpura (HSP). Patients and methods: Ninety-five patients who were diagnosed with HSP and 93 healthy controls without any previous vascular disease, hypertension and other cardiovascular diseases were included in this study. The patient group was compared with the controls for Glu298Asp genotype and allele frequencies. The patients were classified according to the clinical complications and were compared with controls and also each other for allele and genotype frequencies. Real-time polymerase chain reaction and LightCycler (R) 2.0 system were used. Results: There was no statistically significant difference in the genotype frequencies between the HSP patients and healthy controls. No significant differences in Glu298Asp gene polymorphism among the patient groups were observed. However, polymorphism had an significant effect on patients with all involvements statistically (P-TT=0.001, P-GG=0.000). Conclusion: We conclude that Glu298Asp polymorphism has no effect on the development of HSP vasculitis; however, it may have an impact on the clinical progress of the existing disease.
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    OCULAR FINDINGS IN 22Q11.2 DELETION SYNDROME
    (SPRINGER/PLENUM PUBLISHERS, 2014) Gokturk, Bahar; Bozkurt, Banu; Yildirim, Mahmut Selman; Reisli, Ismail
    [Abstract not Available]
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    Ocular Findings in Children With 22q11.2 Deletion Syndrome
    (SLACK INC, 2016) Gokturk, Bahar; Topcu-Yilmaz, Pinar; Bozkurt, Banu; Yildirim, Mahmut Selman; Guner, Sukru Nail; Sayar, Esra Hazar; Reisli, Ismail
    Purpose: To identify the ocular features of children diagnosed as having 22q11.2 deletion syndrome in a Turkish population, which is the most common microdeletion syndrome with a wide range of facial and ocular abnormalities. Methods: Sixteen children aged between 4 months and 18 years with a microdeletion in chromosome 22q11.2 underwent a detailed ophthalmological examination including uncorrected and best corrected visual acuity testing, stereoscopic vision examination, biomicroscopic and indirect fundus examination, and ocular motility testing. Results: All patients had at least one ocular abnormality. The major abnormalities were eyelid abnormalities (eye hooding, narrow palpebral fissure, telecanthus, hypertelorism, sparse and thin eyebrows and eyelashes, blepharitis, and distichiasis), posterior embryotoxon, and tortuous retinal vessels in at least half of the patients. Other ophthalmological disorders were refractive errors, iris remnants, and strabismus. Conclusions: The chromosome 22q11.2 deletion syndrome is associated with a wide range of ocular disorders, which necessitates a comprehensive eye examination for appropriate treatment and follow-up. Ocular findings sometimes can provide a clue to the diagnosis of 22q11.2 deletion.