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Descriptive Study on Phenotypes of Genetic Eye Disorders Presented to the Ophthalmo-Genetic Clinic at the Faculty of Medicine Colombo

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Descriptive Study on Phenotypes of Genetic Eye Disorders Presented to the Ophthalmo-Genetic Clinic at the Faculty of Medicine Colombo Descriptive study on Phenotypes of Genetic Eye Disorders Presented to the Ophthalmo-genetic clinic at the Faculty of Medicine Colombo BY KUSHARA NUWANTHI DILSHANIE WEERAPPERUMA (M.B.B.S. Colombo) REG NO 25563 DISSERTATION SUBMITTED TO THE UNIVERSITY OF COLOMBO, SRI LANKA IN PARTIAL FULFILMENT OF THE REQUIREMENTS OF THE MASTER OF SCIENCE IN CLINICAL GENETICS AUGUST 2014 i CERTIFICATION I certify that the contents of this dissertation are my own work and that I have acknowledged the sources where relevant. ………………………………………… Signature of the candidate This is to certify that the contents of this dissertation were supervised by the following supervisors: ……………………………. NAME OF SUPERVISOR ……………………………. ………………………….. Dr Dulika Sumathipala Prof. V.H.W. Dissanayake ii ACKNOWLEDGEMENTS I would like to thank my supervisors Prof. Vajira H.W. Dissanayake, Professor in Anatomy and Medical Geneticist, Human Genetics Unit, Faculty of Medicine, University of Colombo and Dr. Madhuwanthi Dissanayake, Head of the department in the department of Anatomy, Faculty of Medicine, University of Colombo for their valuable input, guidance and supervision during the study. This research was supported by the NOMA grant funded by NORAD in collaboration with the University of Colombo, Sri Lanka & the University of Oslo, Norway. I would specially thank Dr. Dharma Irugalbandara, Consultant pediatric Ophthalmologist, Dr. Hiranya Abeysekera, Senior registrar in pediatric ophthalmology and all the medical officers in Ophthalmology Unit, Lady Ridgeway Children’s Hospital, Colombo, for support provided regarding the recruitment of patients. I would also like to thank Consultant Ophthalmologists Dr.Muditha Kulatunga, Dr. Binara Amarasinghe, Dr. Deepanee Wewalwala, Dr. Mangala gamage, and Dr Manel Pasquel from National eye hospital, Colombo, and Ophthalmology Units in General Hospitals, for support provided regarding recruitment of patients. I wish to thank all our patients and their families for their participation in this study. I also wish to acknowledge Miss P.K.D.S. Nisansala and Mrs. S.S.S.M. Bandaranayake of the Human Genetics Unit, Faculty of Medicine, Univercity of Colombo for their support and assistance. I thank Lord Buddha for inculcating the ethical background in me and strengthening mind to face challenges. I thank my parents for their confidence, strength and enhancement, throughout my educational pathway. Their expectations motivated me to complete this task. iii TABLE OF CONTENTS ACKNOWLEDGEMENT...................................................................................... i DECLARATION…………………………………………………………………. ii LIST OF TABLES …………………………………………………………………… vii LIST OF FIGURES………………………………………………………………….. ix ABSTRACT……………………………………………………………………….. xii PUBLICATIONS AND ABSTRACTS………………………………………… xiv 1.0 Introduction………………………………………………………………….. 1 1.1 Background ……………………………………………………………. 1 1.2 Retinoblastoma …………………………………..…………..………… 2 1.2.1 Diagnosis of retinoblastoma………………………………….. 2 1.2.2 Classification of Retinoblastoma……………………………... 4 1.2.3 Genetics of Retinoblastoma…………………………………... 7 1.2.4 Two hit hypothesis……………………………………………. 9 1.2.5 Place of Chromosome analysis in Retinoblastoma………….. 10 1.2.6 Molecular genetic testing of Retinoblastoma………………... 11 1.2.7 Genetic counseling of Retinoblastoma……………………….. 15 1.2.8 Management of Retinoblastoma……………………………... 20 1.2.9 Surveillance of Retinoblastoma……………………………... 20 1.3 Retinitis pigmentosa…………………………………………….. …….. 22. 1.3.1 Diagnosis of Retinitis pigmentosa …………………………... 22 1.3.2 Genetics and inheritance of Retinitis pigmentosa …………… 22 1.3.3 Clinical Manifestations of Retinitis pigmentosa……………. 30 1.3.4 Molecular genetic testing of Retinitis pigmentosa…………… 36 1.3.5 Prevalence of Retinoblastoma……………………………….. 37 1.4 Stargartd macular dystrophy…………………………………………….. 37 1.4.1 Clinical Manifestations of Stargartd macular dystrophy …….. 38 1.4.2 Genetics and inheritance of Stargartd macular dystrophy ……. 38 1.4.3 Pathophysiology of Stargartd macular dystrophy …………….. 41 1.5 Epithelial Basement Membrane type corneal Dystrophy ………………. 41 1.5.1 Clinical Manifestations of EBMD…………………………… 41 1.5.2 Genetics and inheritance of EBMD…………………………. 42 iv 1.6 Aniridia ………………………………………………………………. 43 1.6.1 Diagnosis of Aniridia ...………………..…………………... 43 1.6.2 Genetics and Inheritance of Aniridia……………................ 44 1.7 Coloboma………………………………………………………………. 46 1.8 Waardenburg syndrome………………………………………………... 48 1.8.1 Diagnostic criteria of Waardenburg syndrome ……………... 48 1.8.2 Clinical Manifestations of Waardenburg syndrome ………… 50 1.8.3 Phenotypes of Waardenburg syndrome ……….……………. 50 1.8.4 Genetics and inheritance of Waardenburg syndrome ………. 54 1.9 Blepherophimosis Ptosis Epicnthus Inversus Syndrome (BPES)……. 55 1.9.1 Clinical features of BPES…………………………………… 55 1.9.2 Diagnostic criteria of BPES ………………………………… 56 1.9.3 Genetics of BPES……………………………………………. 57 1.9.4 Patterns of inheritance of BPES……………………………… 59 1.10 Moebius syndrome…………………………………………………….. 59 1.11 Justification……………………………………………………………. 60 1.12 Objectives……………………………………………………………… 60 2.0 Methodology ………………………………………………………………… 69 2.1 Study design…………………………………………………………… 69 2.2 Subjects……………………………………………..…………..……… 70 2.3 Inclusion criteria………………………………………………………. 71 2.4 Exclusion criteria………………………………………………………. 71 2.5 Obtaining written informed consent…………………………………… 72 2.6 Clinical evaluation…………………………………………………….. 73 2.7 Statistical analysis of data……………………………………………… 74 2.8 Ethical issues relevant to the study…………………………………….. 74 3.0 Results…………………………………………….………………………….. 76 3.1 Retinoblastoma …………………………………..……….…..………... 86 3.2 Retinitis pigmentosa……………………………………………………. 96 3.3 Stargartd macular dystrophy……………………………………………. 104 3.4 Epithelial Basement Membrane type corneal Dystrophy ……………… 105 3.5 Aniridia ………………………………………………………………… 107 3.6 Coloboma………………………………………………………………. 108 v 3.6.1 Patient 1 with Coloboma (CB1)……………………………… 108 3.6.2 Patient 2 with Coloboma (CB2)….………………………… 108 3.7 Waardenburg syndrome………………………………………………… 109 3.7.1 Patient 1 with Waardenburg syndrome (WB1)………………. 109 3.7.2 Patient 2 with Waardenburg syndrome (WB2)………………. 112 3.8 Blepherophimosis ptosis epicnthus inversus syndrome………………... 113 3.9 Moebius syndrome……………………………………………………. 115 4.0 Discussion…………………………………………………………………… 118 4.1 Retinoblastoma …………………………………..…………….….….. 120 4.2 Waardenburg syndrome (WS1)……………………………………….. 125 4.3 Waardenburg syndrome (WS2)……………………………………….. 130 4.4 Moebius syndrome…………………………………………………….. 133 4.5 Blepherophimosis ptosis epicnthus inversus syndrome………………. 135 4.6 Retinitis pigmentosa…………………………………………………... 137 4.7 Epithelial Basement Membrane type corneal Dystrophy …………….. 139 4.8 Aniridia ……………………………………………………………….. 140 4.9 Coloboma……………………………………………………………… 140 4.10 Stargartd macular dystrophy…………………………………………... 141 5.0 Conclusions………………………………………………………………….. 143 6.0 Limitations…………………………………………………………………… 144 7.0 Recommendations…………………………………………………………… 146 8.0 REFERENCES…………………………………………………………… 147 APPENDIX 1: List of abbreviations……………………………………… 163 APPENDIX 2: Documents used for subject recruitment………………… 164 vi List of Tables Table 1.1: Summary of molecular genetic testing used in Retinoblastoma 12 Table 1.2: The probability of germline mutation being present in a proband with RB 18 based on family history and tumor presentation Table 1.3: Causes of nonsyndromic Retinitis pigmentosa by mode of inheritance 23 Table 1.4: Genes associated with autosomal dominant retinitis pigmentosa 24 Table 1.5: Genes Associated with Autosomal Recessive Retinitis Pigmentosa 27 Table 1.6: Genes Associated with X-Linked RP (xlRP) 30 Table 1.7: Reported mutations in ABCA4 gene that can cause STGD 1 40 Table 1.8: Types of mutations in PAX6 gene that result in aniridia 45 Table 1.9: Major and minor criteria for the diagnosis of Waardenburg syndrome 49 Table 1.10: Phenotypes of Waardenburg syndrome with associated genes/loci and 52 MIM numbers Table 1.11: FOXL2 Pathogenic Allelic Variants causing BPES 58 Table 1.12: Magnitude of blindness in children according to the region 62 Table 1.13: Magnitude of blindness in children according to the causative factors 63 Table 1.14: Etiological categories in 226 Sri Lankan children attending blind schools 65 with severe visual impairment and blindness Table 3.1: The consistency of the cohort of patients in the ophthalmo-genetic project 77 and the percentage of patients in each category vii Table 3.2: Summery of ophthalmo-genetic conditions observed within the paediatric 79 group of patients Table 3.3: Patient numbers and disorder categories 86 Table 3.4: Presenting clinical features of retinoblastoma cohort of patients 87 Table 3.5: Mean age of presentation of bilateral and unilatelal retinoblastomas 89 Table 3.6: Family history positivity in bilateral and unilatelal retinoblastomas 90 Table 3.7: Globe preservation rates of bilateral and unilateral Retinoblastoma 95 Table 4.1: Percentage of patients presented with leucocoria in different countries 121 Table 4.2: Comparisen of clinical presentations of retinoblastomas in different 123 countries Table 4.3: A comparison of globe preservation and enucleation rates in Bilataral and 123 Unilatral Retinoblastomas in different countries Table 4.4: Clinical features of Waardenburg syndrome type I (WS1) compared to 126 clinical features of the project patient Table 4.5: Comparison of clinical features of patient 1, with the reported clinical 128 features of Waardenburg syndrome type Table 4.6: Comparison of reported clinical
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