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Multimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy.
CONCLUSION: One novel homozygous missense mutation in OAT was identified and considered to be pathogenic in a patient with GA. The response for the vitamin B6 supplementation was positive, which is rare in all the GA cases reported in the literature. Our data suggests that further studies regarding the relationship between genotype and responsiveness to vitamin B6 should be conducted. PMID: 29757052 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 16, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Moniliform blepharosis in lipoid proteinosis with a homozygous ECM1 gene mutation.
Authors: Barut Selver O, Palamar M, Onay H, Furundaoturan O, Akalın T, Noyan MA PMID: 29718750 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 3, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family.
CONCLUSIONS: The variants of CEP250 are both null variants and according to American College of Medical Genetics and Genomics (ACMG) standards and guideline, these variants are classified into the very strong category (PVS1). The criteria for both alleles will be pathogenic. Our data indicate that mutations of CEP250 can cause mild CRD and SNHL in Japanese patients. Because the ophthalmological phenotypes were very mild, high-resolution retinal imaging analysis, such as AO, will be helpful in diagnosing CEP250-associated disease. PMID: 29718797 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 3, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Targeted next-generation sequencing reveals that a compound heterozygous mutation in phosphodiesterase 6a gene leads to retinitis pigmentosa in a Chinese family.
CONCLUSION: By using targeted NGS method, we identified a compound heterozygous mutation in PDE6A gene that is associated with RP in a Chinese family. PMID: 29693493 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 26, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations.
CONCLUSIONS: Heimler syndrome due to biallelic PEX6 mutations demonstrates a macular dystrophy with characteristic fundus autofluorescence and may be complicated by intraretinal cystoid spaces. PMID: 29676688 [PubMed - in process] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 22, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Pediatric primary calcific band keratopathy with or without glaucoma from biallelic SLC4A4 mutations.
Authors: Khan AO, Basamh OS Abstract Biallelic mutations in the gene SLC4A4 (Solute Carrier Family 4 Member 4) cause protean manifestations in children that include proximal retinal tubular acidosis, developmental delay, band keratopathy, and glaucoma. A unique SLC4A4 mutation causes an ocular-only phenotype. In this retrospective case series, we highlight our experience with children referred to a pediatric ophthalmologist who were found to harbor underlying biallelic SLC4A4 mutations. PMID: 29671668 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 21, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Confirmation and refinement of the heterozygous deletion of the small leucine-rich proteoglycans associated with posterior amorphous corneal dystrophy.
CONCLUSIONS: This is the first report of the OCT appearance of PACD and the second confirmation of a heterozygous deletion of chromosome 12q21.33 as the cause of PACD, highlighting the utility of array-based cytogenomics to confirm the suspected clinical diagnosis of PACD. As the smallest previously reported pathogenic deletion was 0.701 Mb, the 0.304-Mb deletion we report is the smallest identified to date and reduces the size of the PACD locus to 0.275 Mb. PMID: 29671669 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 21, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Progressive expansion of the hyperautofluorescent ring in cone-rod dystrophy patients.
CONCLUSION: Progressive expansion of hyperautofluorescent macular ring with a correspondent EZ band defect enlargement was observed over time in CRD patients. PMID: 29671671 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 21, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Early photoreceptor outer segment loss and retinoschisis in Cohen syndrome.
CONCLUSION: Photoreceptor outer segment abnormalities and retinoschisis may represent the earliest structural retinal change detected by spectral domain optical coherence tomography in patients with Cohen syndrome, suggesting a complex pathophysiology with primary involvement of the photoreceptor cilium and disorganization of the structural integrity of the inner retina. PMID: 29634382 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 14, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly).
CONCLUSIONS: The same disease haplotype that included a novel PRPH2 variant (p.Cys250Gly) was identified in three of the four Japanese families with adRP, suggesting a founder effect. Our clinical findings indicate that adRP caused by the p.Cys250Gly variant may accompany macular involvement with high frequency. PMID: 29630435 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 11, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion.
We report a female infant with these features but due, instead, to a contiguous gene deletion on chromosome Xp including the OMIM morbid genes CASK, KDM6A, NDP, MAOA, NYX, and DDX3X. The NDP deletion could account for the exudative retinopathy and the CASK deletion for the microcephaly, while CASK and KDM6A have both been associated with coloboma. This case highlights genetic heterogeneity for the clustering of these signs. PMID: 29617172 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 5, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Comment: conservative management of massive choroidal relapse in retinoblastoma patients?
Authors: Khetan V, Maitray A PMID: 29578813 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - March 27, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Response to Khetan and Maitray's "Comment: Conservative management of massive choroidal relapse in retinoblastoma patients?"
Response to Khetan and Maitray's "Comment: Conservative management of massive choroidal relapse in retinoblastoma patients?" Ophthalmic Genet. 2018 Mar 26;:1 Authors: Stathopoulos C, Gaillard MC, Puccinelli F, Maeder P, Hadjistilianou D, Beck-Popovic M, Munier F PMID: 29578815 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - March 27, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Intravitreal chemotherapy and laser for newly visible subretinal seeds in retinoblastoma.
CONCLUSION: There has been no effective treatment for "new" subretinal seeding after OAC except enucleation or second course OAC. Combined intravitreal chemotherapy with 810 nm indirect laser may be an effective and safe alternative to enucleation. PMID: 29513055 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - March 9, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Genetic association of single nucleotide polymorphisms of FZD4 and BDNF genes with retinopathy of prematurity.
CONCLUSION: We suggest that rs61749246:C˃A of the FZD4 gene is likely associated with the development of ROP. It is necessary to confirm this suggestion in larger studies. PMID: 29465286 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - February 23, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia.
CONCLUSION: These results support the crucial role of GJA3 and SOX2 in eye development and indicate a detailed functional study to understand the molecular mechanisms underlying the disease pathology. PMID: 29461140 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - February 21, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

OCT-guided management of subclinical recurrent retinoblastoma.
CONCLUSION: OCT has become invaluable in the modern management of Rb. It allows not only early detection of a lesion before any tumor extension towards the macula or optic nerve head, but also the monitoring of the therapeutic response. PMID: 29424610 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - February 11, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?
CONCLUSION: The four siblings had a novel splice site mutation in RAB3GAP2. This report compares the symptoms and features of the our patients with clinical summary of Warburg Micro syndrome 2 and Martsolf syndrome. Further reports will make possible knowing of the genetic and clinical backgrounds of this orphan diseases. Abbreviation: MRI: Magnetic resonance imaging. PMID: 29419336 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - February 10, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Identification of PITX3 mutations in individuals with various ocular developmental defects.
CONCLUSIONS: Our study unveils different phenotypes associated with known and novel mutations in PITX3, which will improve the genetic counselling of patients and their families. PMID: 29405783 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - February 8, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Identification and genotype phenotype correlation of novel mutations in SIX6 gene in primary open angle glaucoma.
CONCLUSION: These results expand the mutation spectrum of SIX6 gene and suggest that SIX6 gene plays an important role in POAG pathogenesis. PMID: 29405792 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - February 8, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Correction to: Valgaeren, Koppen and Van Camp, A New Perspective on the Genetics of Keratoconus: Why Have We Not Been More Successful?
Authors: PMID: 29400575 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - February 7, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

The distinct optic disk and peripapillary appearance in Donnai-Barrow syndrome.
CONCLUSIONS: A distinctive optic nerve head dysgenesis is part of Donnai-Barrow syndrome and can help distinguish its ocular phenotype from other vitreo-retinopathies associated with high myopia. PMID: 29388841 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - February 3, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

The relationship between HDAC6, CXCR3, and SIRT1 genes expression levels with progression of primary open-angle glaucoma.
CONCLUSIONS: The expression level of HDAC6, CXCR3, and SIRT1 genes may be involved in the progression of POAG. PMID: 29384425 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - February 1, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Novel compound heterozygous mutation in the POC1B gene underlie peripheral cone dystrophy in a Chinese family.
CONCLUSIONS: PCD was a type of COD or CORD and the novel compound heterozygous mutation in POC1B was responsible for PCD phenotype in the family. PMID: 29377742 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - January 31, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Misdiagnosis of X-linked retinitis pigmentosa in a choroideremia patient with heavily pigmented fundi.
Authors: Nanda A, Salvetti AP, Martinez-Fernandez de la Camara C, MacLaren RE Abstract 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. But, it is not so obv...
Source: Ophthalmic Genetics - January 31, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Novel retinal findings in peroxisomal biogenesis disorders.
We report an unusual retinal manifestation of peroxisomal biogenesis disorder. PMID: 29377746 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - January 31, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Long-term follow-up of autosomal dominant Stargardt macular dystrophy (STGD3) subjects enrolled in a fish oil supplement interventional trial.
CONCLUSIONS: Our inability to detect a benefit of fish oil could be the result of small subject numbers, poor compliance, or intervention too late in the course of the disease. We still advise STGD3 patients to consume fish or fish oil regularly, and we recommend that pre-symptomatic children with ELOVL4 mutations should be especially targeted for these interventions. PMID: 29377748 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - January 31, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Methylenetetrahydrofolate reductase C677T polymorphism and diabetic retinopathy.
Authors: Joob B, Wiwanitkit V PMID: 29373052 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - January 28, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Incidental neuroblastoma with bilateral retinoblastoma: what are the chances?
Authors: Roelofs K, Shaikh F, Astle W, Gallie BL, Soliman SE Abstract 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. Incidental neuroblast...
Source: Ophthalmic Genetics - January 18, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Pupillary manifestations of Marfan syndrome: from the Marfan eye consortium of Chicago.
CONCLUSIONS: Our data highlight pupillary parameters within a population of MFS patients under scotopic conditions. Constriction and dilation velocities were slower in the pediatric MFS patients compared to age- and gender-matched controls, and dilation velocities were slower in the adult MFS patients compared to age-matched controls. These findings, for the first time, quantitatively demonstrated differences in pupillary function in patients with MFS. PMID: 29336629 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - January 18, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

M öbius syndrome with cardiac rhabdomyomas.
CONCLUSION: This case highlights the rare co-occurrence of cardiac rhabdomyomas with Möbius syndrome and new segmental loss at 21q21.2 on genetic testing. Findings could indicate not a "suggestion of Möbius", but rather the syndrome itself in association with cardiac defects. PMID: 29336632 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - January 18, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Linear nevus sebaceous syndrome presenting as circumscribed choroidal hemangioma.
Authors: Echegaray JJ, Chen R, Bellerive C, Singh AD Abstract 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 exuda...
Source: Ophthalmic Genetics - January 17, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options.
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. Finally, we discuss current human gene therapy trials. PMID: 29303385 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - January 6, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Investigating the disease association of USH2A p.C759F variant by leveraging large retinitis pigmentosa cohort data.
Authors: DuPont M, Jones EM, Xu M, Chen R PMID: 29283788 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 30, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Lack of correlation between age at diagnosis and RB1 mutations for unilateral retinoblastoma: the importance of genetic testing.
Authors: Berry JL, Lewis L, Zolfaghari E, Green S, Le BHA, Lee TC, Murphree AL, Kim JW, Jubran R PMID: 29286867 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 30, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

DNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucoma.
CONCLUSION: This study reveals an association of methylation status in the CDKN2B promoter with NTG, particularly in females. This suggests that the observed genetic association with the disease at this locus could be in part due to epigenetic mechanisms, and is likely to be independent of the association of nonsynonymous coding variation within the gene. PMID: 29265947 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 23, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

TP53 codon 72 polymorphism and the risk of glaucoma in a north Indian cohort: A genetic association study.
CONCLUSIONS: Ours is the first study demonstrating the association of TP53 P72R with the risk of PACG. It emphasizes that apart from narrow anterior chamber angle, impaired apoptotic mechanisms could also be an important contributor toward PACG. PMID: 29261364 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 22, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Genotype-phenotype variability of retinal manifestation in primary hyperoxaluria type 1.
CONCLUSIONS: PH1 is potentially accompanied with a considerable decline in visual acuity due to macular scaring and fibrosis, whereas a profound variability of ocular manifestations can be observed in PH1 patients with identical genotypes. PMID: 29244539 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 16, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Case of Cone Dystrophy with Normal Fundus Appearance Associated with Biallelic POC1B Variants.
CONCLUSIONS: The cone dystrophy associated with POC1B variants has features similar to achromatopsia, and genetic analyses is useful in discriminating these two diseases. PMID: 29220607 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 10, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature.
CONCLUSIONS: We describe the ocular phenotype of a patient with Wolf-Hirschhorn syndrome, including the rare descriptions and photographs of Axenfeld's anomaly, megalopapilla, and cavitary optic disc anomaly in this condition. PMID: 29199884 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 6, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia.
Authors: Yusuf IH, Shanks ME, Clouston P, MacLaren RE Abstract FLVCR1 (feline leukemia virus subgroup c receptor 1) is a transmembrane protein involved in the trafficking of intracellular heme. Homozygous variants in FLVCR1 have been described in association with a clinical syndrome of posterior column ataxia with retinitis pigmentosa (PCARP). Here, we describe a patient with non-syndromic retinitis pigmentosa homozygous for a splice-site variant in FLVCR1 (c.1092 + 5G>A) without evidence of posterior column ataxia or cerebellar degeneration. We suggest an association between intronic splice-site varia...
Source: Ophthalmic Genetics - December 3, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

The relationship between methylenetetrahydrofolate reductase C677T polymorphism and diabetic retinopathy: A meta-analysis in multiethnic groups.
CONCLUSIONS: Our study suggested that the MTHFR C677T polymorphism may contribute to DR development in multiethnic groups. Studies with larger sample sizes and wider spectrum of populations are warranted to verify this finding. PMID: 29182429 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 30, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Diagnosis of multiple endocrine neoplasia type 2B and management of its ocular features.
CONCLUSIONS: Ophthalmologists play a vital role in recognizing this rare but lethal malignancy. We report on a patient with apart from characteristic ocular findings also staphylococcal hypersensitivity and widespread systemic vasculopathy. PMID: 29182461 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 30, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Myopia rates in a genetically isolated population.
Authors: Galvis V, Tello A, Gomez LM, Otero J PMID: 29172844 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 29, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Temporal retinal thinning and the diagnosis of Alport syndrome and Thin basement membrane nephropathy.
This study compared retinal thinning in Alport syndrome and other renal diseases. METHODS: Alport syndrome was diagnosed on renal biopsy and genetic testing. Subjects underwent optical coherence tomography (OCT) (Spectralis OCT, Heidelberg Instruments). Retinal thinning was determined from horizontal macular OCT scans through the foveal center using the formula: Temporal thickness index (TTI) = (nasal - temporal thickness) ÷ nasal thickness × 100%, and compared with the normal range for each age group. Statistical analysis was performed using Student's t test, Mann-Whitney U test, and ROC analysi...
Source: Ophthalmic Genetics - November 29, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Response to Galvis et al.'s "Myopia rates in a genetically isolated population".
Response to Galvis et al.'s "Myopia rates in a genetically isolated population". Ophthalmic Genet. 2017 Nov 27;:1 Authors: Hilkert SM, Parness-Yossifon R, Mets-Halgrimson R, Mets MB PMID: 29172911 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 29, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Unilateral Coats'-like disease and an intragenic deletion in the TERC gene: A case report.
We report a case of a 25-year-old woman with unilateral Coats'-like disease. Her brother was previously diagnosed with an autosomal dominant form of dyskeratosis congenita. Genetic testing was performed by screening the TERC gene for mutations and identified heterozygosity for the n.68_124del mutation. Our case demonstrates that the exudative retinopathy seen in Coats'-like disease can be caused by mutations in a telomere-capping gene TERC as a part of the dyskeratosis congenita spectrum without other systemic involvement. This is an interesting case that illustrates that retinal Coats'-like involvement can be the first ma...
Source: Ophthalmic Genetics - November 23, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Editorial Board EOV.
Authors: PMID: 29166206 [PubMed - in process] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 23, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Risk allele of the FZD4 gene for familial exudative vitreoretinopathy.
Authors: Kondo H, Uchio E, Kusaka S, Higasa K PMID: 29135315 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 16, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A rare form of ankyloblepharon filiforme adnatum associated with the Hay-Wells syndrome and a c.1709T > C mutation on the TP63 gene.
CONCLUSIONS: The mutation was not previously described in the literature or databases and should be included into these as probably pathogenic. A multidisciplinary approach is necessary to care for a patient with Hay-Wells syndrome, such care however can provide good results. PMID: 29140732 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 16, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research