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Ophthalmic Genetics

David H Abramson, Federica Catalanotti, Scott E Brodie, Michael G Kellick, Jasmine H Francis
BACKGROUND: There has been no effective method for treating newly visible ("new") subretinal seeding in retinoblastoma except enucleation. The objective of this report is to determine whether intravitreal chemotherapy combined with 810 nm indirect laser can successfully treat retinoblastoma eyes with "new" subretinal seeding which appeared after intra-arterial chemotherapy (ophthalmic arterial chemosurgery: OAC). MATERIAL AND METHODS: Single center retrospective study from a tertiary cancer hospital of a case series of 14 eyes treated with combined intravitreal chemotherapy and laser from 2012 to 2017...
March 7, 2018: Ophthalmic Genetics
Zora Lasabova, Andrea Stanclova, Marian Grendar, Silvia Mikolajcikova, Andrea Calkovska, Nina Lenhartova, Peter Ziak, Katarina Matasova, Martin Caprnda, Peter Kruzliak, Mirko Zibolen
BACKGROUND: Retinopathy of prematurity (ROP) is a multifactorial disease occurring in preterm neonates, caused by incorrect development of retinal blood vessels. It has been suggested that, in addition to gestational age, weight, and oxygen supplementation, genetic factors can play a role in the pathogenesis of ROP. METHODS: In the present prospective study, 97 neonates were enrolled based on the gestational age and weight, and genomic DNA from patients diagnosed with ROP and premature newborns without ROP was collected...
February 21, 2018: Ophthalmic Genetics
Nair Gopinathan Vidya, Sankaranarayanan Rajkumar, Abhay R Vasavada
BACKGROUND: Mutation in eye developmental genes has been reported to cause anophthalmia and microphthalmia. However, in India, especially in the Western Indian population, such reports are scarce. Hence, the present study aims to investigate mutations in 15 ocular developmental genes in patients with anophthalmia and microphthalmia in the western region of India. MATERIALS AND METHODS: Genomic DNA was isolated from the blood of 52 individuals affected with microphthalmia and anophthalmia, and 50 healthy normal controls...
February 20, 2018: Ophthalmic Genetics
Marie-Claire Gaillard, Susan Houghton, Christina Stathopoulos, Francis L Munier
PURPOSE: Retinoblastoma (Rb) tumor recurrence in the papillary or macular region is a threat to life and visual prognosis respectively, making early detection indispensable. This study demonstrates the value of optical coherence tomography (OCT) in the early detection of subclinical tumor recurrence. METHODS: Since June 2012, hand-held SD-OCT (spectral domain Optical Coherence Tomography) of retro-equatorial foci, the optic head nerve and macula, is systematically performed under anesthesia in children treated and followed for Rb...
February 9, 2018: Ophthalmic Genetics
Evren Gumus
BACKGROUND: Warburg micro syndrome is a very rare autosomal recessive disorder characterized by a mutation in the RAB3GAP1, RAB3GAP2, RAB18, and TBC1D20 genes. Warburg Micro syndrome 2 and Martsolf syndrome are clinically overlapping conditions characterized by variable clinical signs counting postnatal growth retardation, cataract, intellectual deficiency, contractures, and central nervous system abnormalities due to RAB3GAP2 gene mutations. The RAB3GAP2 gene encodes a member of the Rab3 protein family, which is involved in regulated exocytosis of neurotransmitters and hormones...
February 8, 2018: Ophthalmic Genetics
Kuldeep Mohanty, Rima Dada, Tanuj Dada
BACKGROUND: Recently SIX1 and SIX6 genes have been associated with primary open angle glaucoma (POAG). This study was planned to do mutation screening in SIX1 and SIX6 genes in North Indian POAG patients and correlate with clinical phenotypes. MATERIALS AND METHODS: SIX1 and SIX6 genes were amplified by PCR and sequenced in 115 POAG cases and 105 controls. Four pathogenecity prediction tools (MutationTaster, PolyPhen-2 HumDiv, PolyPhen-2 HumVar and SIFT) were used to predict the pathogenicity of the missense mutations...
February 6, 2018: Ophthalmic Genetics
Celia Zazo Seco, Julie Plaisancié, Tatiana Lupasco, Caroline Michot, Jacmine Pechmeja, Julian Delanne, Edouard Cottereau, Carmen Ayuso, Marta Corton, Patrick Calvas, Nicola Ragge, Nicolas Chassaing
BACKGROUND: Congenital cataract displays large phenotypic (syndromic and isolated cataracts) and genetic heterogeneity. Mutations in several transcription factors involved in eye development, like PITX3, have been associated with congenital cataracts and anterior segment mesenchymal disorders. MATERIALS AND METHODS: Targeted sequencing of 187 genes involved in ocular development was performed in 96 patients with mainly anophthalmia and microphthalmia. Additionally, Sanger sequencing analysis of PITX3 was performed on a second cohort of 32 index cases with congenital cataract and Peters anomaly and/or sclereocornea...
February 6, 2018: Ophthalmic Genetics
(no author information available yet)
No abstract text is available yet for this article.
February 5, 2018: Ophthalmic Genetics
Arif O Khan, Nicola G Ghazi
INTRODUCTION: Biallelic mutations in low-density lipoprotein-related protein 2 (LRP2) cause the multi-system Donnai-Barrow syndrome (facio-oculo-acoustico-renal syndrome). Although Donnai-Barrow syndrome is recognized as a form of vitreo-retinopathy, the ocular phenotype has not been well defined. The purpose of this study is to document the disk and peripapillary appearance in Donnai-Barrow syndrome. METHODS: Retrospective cases series (five children with low vision from a consanguineous Emirati family known to harbor LRP2 mutation (NM_004525...
February 1, 2018: Ophthalmic Genetics
Mateusz Siwak, Marcin Maślankiewicz, Alicja Nowak-Zduńczyk, Wioletta Rozpędek, Radosław Wojtczak, Katarzyna Szymanek, Marta Szaflik, Jerzy Szaflik, Jacek P Szaflik, Ireneusz Majsterek
BACKGROUND: Primary open-angle glaucoma (POAG) belongs to neurodegenerative diseases. Its etiology is not fully understood. However, a lot of reports have indicated that many biochemical molecules are involved in the retinal ganglion cell damage. Therefore, the purpose of this study was to evaluate a relationship between HDAC6, CXCR3, and SIRT1 genes expression levels with the occurrence risk of POAG and its progression. MATERIALS AND METHODS: The study included 34 glaucoma patients and 32 subjects without glaucoma symptoms...
January 31, 2018: Ophthalmic Genetics
Rene Choi, Aruna Gorusupudi, Paul S Bernstein
BACKGROUND: Earlier studies have raised the notion that docosahexaenoic acid (DHA) and eicosapentaenoic acid (EPA) supplementation could be a useful intervention in autosomal dominant Stargardt macular dystrophy (STGD3). We sought to assess whether fish oil supplementation has a beneficial effect on the clinical course of STGD3 secondary to a mutation in the ELOVL4 gene. MATERIALS AND METHODS: Eleven patients with STGD3 were enrolled in an 8-year open-label, clinical interventional study of over-the-counter fish oil supplements at a recommended daily dose of 650 mg EPA and 350 mg DHA (NCT00420602)...
January 29, 2018: Ophthalmic Genetics
B E O'Bryhim, B A Kozel, G T Lueder
Peroxisomal biogenesis disorders are caused by disruption of long chain fatty acid metabolism due to mutations in PEX genes. Individuals with these disorders often have vision loss due to optic atrophy and pigmentary retinopathy. We report an unusual retinal manifestation of peroxisomal biogenesis disorder.
January 29, 2018: Ophthalmic Genetics
A Nanda, A P Salvetti, C Martinez-Fernandez de la Camara, R E MacLaren
Inherited retinal diseases are thought to be the leading cause of sight loss in the working age population. Mutations found in the RPGR and CHM genes cause retinitis pigmentosa (RP) and choroideremia, respectively. In the first instance, an X-linked family history of visual field loss commonly raises the suspicion of one of these two genes. In choroideremia, the classic description of a white fundal reflex secondary to the widespread chorioretinal degeneration was made over a hundred years ago in Caucasians...
January 29, 2018: Ophthalmic Genetics
Xin Jin, Lanlan Chen, Dajiang Wang, Yixin Zhang, Zehua Chen, Houbin Huang
PURPOSE: To describe the clinical characteristics of a Chinese family with peripheral cone dystrophy (PCD) and identify the gene mutations causing PCD. METHODS: The Chinese PCD pedigree underwent comprehensive ophthalmic examinations, including visual acuity, slit lamp examination, fundoscopy, visual field examination, autofluorescence, fluorescence fundus angiography and indocyanine green angiography, full-field electroretinograms, and spectral-domain optical coherence tomography...
January 29, 2018: Ophthalmic Genetics
Beuy Joob, Viroj Wiwanitkit
No abstract text is available yet for this article.
January 26, 2018: Ophthalmic Genetics
Aimee Verner, Swati Agarwal-Sinha, Frank Yanfeng Han
BACKGROUND: Möbius syndrome is a rare congenital condition which presents not merely with 6th and 7th nerve palsies, but involves gaze paresis associated with craniofacial, limb, and other abnormalities. Heterogeneity is well known in patients with Möbius syndrome and rather than being of familial inheritance based on rare cases, it is much more recognized as a sporadic syndrome. We report an infant with features of congenital Möbius syndrome associated with cardiac rhabdomyomas in the absence of tuberous sclerosis...
January 16, 2018: Ophthalmic Genetics
Sanket S Shah, Sudhi P Kurup, Hantamalala Ralay Ranaivo, Rebecca B Mets-Halgrimson, Marilyn B Mets
BACKGROUND: Marfan syndrome (MFS) is a genetic disorder that affects multiple organ systems, including the eye. The most common ocular manifestations include ectopia lentis and retinal detachment. The current literature qualitatively cites that MFS patients have miotic or "poorly dilating" pupils. This study was the first to quantitatively assess pupillary function in MFS patients. MATERIALS AND METHODS: 57 eyes from 29 MFS patients, 36 eyes from 18 pediatric age- and gender-matched controls, and 44 eyes from 22 adult age-matched controls were measured in a clinic-based cross sectional study...
January 16, 2018: Ophthalmic Genetics
Kelsey Roelofs, Furqan Shaikh, William Astle, Brenda L Gallie, Sameh E Soliman
A child with bilateral familial retinoblastoma underwent staging MRI brain and orbit which identified subtle leptomeningeal enhancement, thus prompting an MRI whole body, which revealed a retroperitoneal mass, confirmed on laparoscopic biopsy to be neuroblastoma. This is the first reported case of these two rare embryonal non-central nervous system tumors occurring concurrently. The cause of this concurrence is unknown despite their pathogenic similarities with a chance of 4 cases per 10 billion children aged 1-4 years...
January 16, 2018: Ophthalmic Genetics
Jose J Echegaray, Rachel Chen, Claudine Bellerive, Arun D Singh
A 4-year-old female with a unilateral circumscribed choroidal hemangioma and secondary total exudative retinal detachment. A nasal skin scar-like lesion incised to confirm a histopathologic diagnosis of linear nevus sebaceous. Further imaging disclosed asymmetry of the lateral ventricle frontal horns, suggestive of the diagnosis of linear nevus sebaceous syndrome. The choroidal hemangioma was treated with I-125 episcleral brachytherapy (apical dose of 45 Gy). At 6 months post-radiation, the tumor showed regression with total resolution of exudative retinal detachment...
January 15, 2018: Ophthalmic Genetics
Nashila Hirji, Jonathan Aboshiha, Michalis Georgiou, James Bainbridge, Michel Michaelides
Achromatopsia is an autosomal recessive condition, characterised by reduced visual acuity, impaired colour vision, photophobia and nystagmus. The symptoms can be profoundly disabling, and there is no cure currently available. However, the recent development of gene-based interventions may lead to improved outcomes in the future. This article aims to provide a comprehensive review of the clinical features of the condition, its genetic basis and the underlying pathogenesis. We also explore the insights derived from animal models, including the implications for gene supplementation approaches...
January 5, 2018: Ophthalmic Genetics
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