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Ophthalmic Genetics

Fukutaro Mano, Stephen A LoBue, Timothy W Olsen, Alan D Marmorstein, Jose S Pulido
BACKGROUND: To report a 68-year-old female with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a subretinal hemorrhage (SRH) and novel BEST1 pathogenic variation p.Met571Thr. MATERIALS AND METHODS: The patient was assessed by fundus photography, fluorescence and indocyanine green angiography, spectral-domain optical coherence tomography, photopic and scotopic electroretinogram (ERG), and electrooculogram (EOG). Whole-exome and Sanger sequencing of the patient's and selected family members' DNA was performed...
September 17, 2018: Ophthalmic Genetics
Francisca Zuazo, Alina V Dumitrescu
BACKGROUND: Inherited eye disorders are genetically determined conditions that are present from birth and usually manifest early, although some may develop later in life. Despite their low incidence, they are a common etiology of pediatric blindness. The occurrence of more than one such disease in a patient is very rare. MATERIAL AND METHODS: Case series of two unrelated patients with simultaneous Stargardt disease (STGD1) as well as Stickler's Syndrome (SS), both genetically confirmed...
August 29, 2018: Ophthalmic Genetics
Dario Pasquale Mucciolo, Andrea Sodi, Ilaria Passerini, Vittoria Murro, Francesca Cipollini, Isabella Borg, Elisabetta Pelo, Elisa Contini, Gianni Virgili, Stanislao Rizzo
PURPOSE: to report phenotypic and genotypic features in a group of autosomal recessive retinitis pigmentosa (arRP) patients associated with EYS mutations. METHODS: we retrospectively reviewed the clinical records and the molecular genetic data of arRP patients carrying mutations in the EYS gene. All the patients underwent a comprehensive opthalmological examination. Additional investigation included color fundus photography, fundus autofluorescence, Goldmann visual field, OCT scans and full-field standard electroretinography...
August 28, 2018: Ophthalmic Genetics
Vitor K L Takahashi, Júlia T Takiuti, Ruben Jauregui, Luiz H Lima, Stephen H Tsang
BACKGROUND AND OBJECTIVE: To evaluate the progression of retinitis pigmentosa (RP) caused by mutations in either PDE6A or PDE6B by measuring the progressive constriction of the hyperautofluorescent ring and shortening of the ellipsoid zone (EZ)-line width. PATIENTS AND METHODS: Fundus autofluorescence (FAF) and spectral-domain optical coherence tomography (SD-OCT) images were obtained from seven patients with autosomal recessive RP caused by mutations in either PDE6A or PDE6B...
August 28, 2018: Ophthalmic Genetics
Anthoula Chatzikyriakidou, Panayiota Founti, Angeliki Melidou, Fani Minti, Emmanouil Bouras, Eleftherios Anastasopoulos, Theofanis Pappas, Anna-Bettina Haidich, Alexandros Lambropoulos, Fotis Topouzis
BACKGROUND: Pseudoexfoliation syndrome (PEX) and glaucoma (pseudoexfoliative glaucoma; PEXG, primary open-angle glaucoma; POAG) have mainly been studied for their associations with genes' polymorphisms. The purpose of this exploratory study was to investigate the role of polymorphisms in genes encoding for micro RNAs (miRNAs) and in genes related to miRNA biogenesis. MATERIAL AND METHODS: In the present genetic association study, ninety-two polymorphisms were investigated for their contribution to PEX (n = 203), PEXG (n = 38), and POAG (n = 40) pathogenesis compared to a control group (n = 188)...
August 27, 2018: Ophthalmic Genetics
Kaitlin Kogachi, Jonathan W Kim, Sarah Green, Rima Jubran, Jesse L Berry
BACKGROUND: In the conservative management of retinoblastoma, detection of tumor activity beneath large, calcified tumors presents a challenging aspect of care as local consolidation is limited in this area. Routine imaging modalities, including magnetic resonance imaging, B-scan ultrasound, and optical coherence tomography, are also limited in providing appropriate surveillance for recurrent disease. MATERIALS AND METHODS: Medical records were reviewed to evaluate patients' demographic data, ophthalmic exams, imaging studies, and histopathologic reports...
August 24, 2018: Ophthalmic Genetics
Thomas J Wubben, Kari H Branham, Cagri G Besirli, Brenda L Bohnsack
BACKGROUND: Few reports on surgical outcomes after retinal detachment in Stickler syndrome exist. Also, infantile-onset glaucoma associated with Stickler syndrome has been rarely reported and no reports exist that examine outcomes after glaucoma surgery. This study describes the clinical and genetic associations and the long-term outcomes of retinal detachment repair or glaucoma surgery in patients with Stickler syndrome. MATERIALS AND METHODS: Retrospective, single-center, case series of patients with Stickler syndrome...
August 21, 2018: Ophthalmic Genetics
Julian C Kelman, Benjamin A Kamien, Natalia C Murray, Himanshu Goel, Clare L Fraser, John R Grigg
Inherited optic neuropathy is a rare cause of debilitating vision loss. It may occur in constellation with other syndromic features of neurological impairment, or present as an isolated finding. We describe a sibling pair, without a family history of vision loss, who developed visual impairment in early childhood consistent with optic neuropathy. Genetic testing identified novel compound heterozygous variants in the aconitase 2 (ACO2) gene. To date, seven families hosting ACO2 variants have been described in the literature...
August 17, 2018: Ophthalmic Genetics
Sora Yasri, Viroj Wiwanitkit
No abstract text is available yet for this article.
August 13, 2018: Ophthalmic Genetics
Bhavna Chawla, Shweta Chaurasia, Sanjay Sharma, Rajesh Pattebahadur, Fahmi Hasan, Rachna Seth, Seema Kashyap, Seema Sen
PURPOSE: Extraocular retinoblastoma with optic nerve invasion is treated by a multimodal protocol consisting of neoadjuvant chemotherapy, enucleation, and adjuvant therapy. This study was conducted to evaluate the performance of magnetic resonance imaging (MRI) used for tumor restaging in these children after systemic chemotherapy administration. METHODS: Contrast-enhanced MRI scan of orbits and brain was performed at diagnosis and patients were treated with neoadjuvant chemotherapy...
August 8, 2018: Ophthalmic Genetics
Sancy Low, Ryian Mohamed, Michelle Ting, Andrew R Webster, David F Garway-Heath
X-Linked Retinoschisis (XLRS) is a common genetically determined form of macular degeneration affecting young males. XLRS is due to mutations in the RS1 gene located on chromosome Xp22 which codes for retinoschisin and is estimated to affect between 1:5000 to 1:20000 individuals worldwide. We report a case of refractory angle-closure glaucoma in a thirty-nine-year-old Caucasian man with atypical XLRS. The patient presented with a two-day history of left eye pain, acutely reduced vision and a nine-month history of hemicranial pain...
August 6, 2018: Ophthalmic Genetics
Arif O Khan, Nisha Patel, Nicola G Ghazi, Shahad S Alzahrani, Stefan T Arold, Fowzan S Alkuraya
PURPOSE: The purpose of this study is to uncover the genetic cause for non-syndromic macular "coloboma" (pseudocoloboma) in three brothers from a consanguineous family. METHODS: Homozygosity mapping for the three affected brothers and whole-exome sequencing in one affected brother, followed by confirmatory Sanger sequencing and segregation analysis of the candidate gene for all immediate family members; molecular modeling of the candidate mutation; and review of clinical, imaging, and laboratory findings...
August 1, 2018: Ophthalmic Genetics
Ehab Abdelkader, Sara AlHilali, Christine Neuhaus, Carsten Bergmann, Tahani AlMurshed, Patrik Schatz
No abstract text is available yet for this article.
August 1, 2018: Ophthalmic Genetics
Khaled Romdhane, Veronika Vaclavik, Daniel F Schorderet, Francis L Munier, H Viet Tran
BACKGROUND: We present a macular dystrophy of differing severity in a single kindred caused by a heterozygous nonsense mutation in CRX. CASE REPORT: A 21-year-old Caucasian male from a Swiss family was investigated for decreasing central visual acuity associated with dischromatopsia. Clinical examination revealed posterior pole atrophy, including the maculopapillary bundle. Multimodal imaging, including autofluorescence, showed a hyperautofluorescent paramacular ring in both eyes...
August 1, 2018: Ophthalmic Genetics
Rolf Raimann, Rene Moya, Rodrigo Anguita, Rudolf Kobus, Marcela Pérez, Patricio Gonzalez
Ligneous conjunctivitis is an uncommon and recurrent type of chronic conjunctivitis. A prevalent cause of this disease is a Plasminogen deficiency, resulting from recessive mutations in the human encoding plasminogen (PLG) gene. This deficiency affects the conjunctiva and also other mucous membranes. Only few hundred cases have been reported in the literature. Here we report a case of a 9-year-old boy with diagnosis of ligneous conjunctivitis. Histopathological examination in hematoxylin-eosin (HE) staining and sequencing of PLG gene were performed to confirm diagnosis...
July 30, 2018: Ophthalmic Genetics
Janine Lenk, Joseph Porrmann, Martin Smitka, Ines Eger, Evelin Schröck, Karl Hackmann, Robert Herber, Frederik Raiskup, Andreas Tzschach
Posterior amorphous corneal dystrophy (PACD) (OMIM 612868) is a rare autosomal dominant disorder characterized by partial or complete posterior lamellar corneal opacification, decreased corneal thickness and flattening of the corneal curvature. PACD is associated with heterozygous deletions in chromosome band 12q21.33 harboring DCN, KERA, LUM, and EPYC which encode small leucine-rich proteoglycans. We report on a 7-year-old male patient with PACD who had an interstitial deletion of 1.3 Mb in 12q21.33. His mother carried a balanced insertional translocation involving this 12q21...
July 30, 2018: Ophthalmic Genetics
Wenmin Sun, Qingjiong Zhang
No abstract text is available yet for this article.
July 30, 2018: Ophthalmic Genetics
Vitor K L Takahashi, Júlia T Takiuti, Ruben Jauregui, Stephen H Tsang
Hereditary diseases of the retina represent a group of diseases with several heterogeneous mutations that have the common end result of progressive photoreceptor death leading to blindness. Retinal degenerations encompass multifactorial diseases such as age-related macular degeneration, Leber congenital amaurosis, Stargardt disease, and retinitis pigmentosa. Although there is currently no cure for degenerative retinal diseases, ophthalmology has been at the forefront of the development of gene therapy, which offers hope for the treatment of these conditions...
July 24, 2018: Ophthalmic Genetics
Arif O Khan
PURPOSE: Early-onset retinal dystrophy is usually isolated but can also be the presenting manifestation of an undiagnosed systemic disease. The purpose of this report is to highlight the initial presentation of a girl with early-onset retinal dystrophy and chronic dermatitis who was found to have an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG). METHODS: Retrospective case report. RESULTS: A 13-year-old Baluchi girl was referred for evaluation of low vision since soon after birth...
July 18, 2018: Ophthalmic Genetics
Jose J Echegaray, Gabrielle Yeaney, Rachel Chen, Claudine Bellerive, Arun D Singh
No abstract text is available yet for this article.
July 10, 2018: Ophthalmic Genetics
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