Ophthalmic manifestations in patients with Leigh syndrome, French Canadian type.
CONCLUSION: Patients with Leigh syndrome, French Canadian type display a variety of ophthalmic findings, and screening at a young age is recommended. PMID: 30426811 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 16, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

FEVR findings in patients with Loeys-Dietz syndrome type II.
CONCLUSION: FEVR findings may lead to diagnosis of LDS and patients with LDS may present with proliferative retinopathy. PMID: 30406707 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 9, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Genetic screening of Russian Usher syndrome patients toward selection for gene therapy.
CONCLUSION: The Russian USH cohort shows both novel and known USH mutations. Clinically the prevalence of USH2 is low (39.28%) and the frequency of MYO7A mutations responsible for USH1B is very high (63.63%, N = 7/11) compared to other cohorts. These seven patients carrying MYO7A mutations are preliminarily eligible for the UshStat® gene therapy. PMID: 30358468 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - October 27, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Gene therapy for RPE65-related retinal disease.
Authors: Miraldi Utz V, Coussa RG, Antaki F, Traboulsi EI Abstract Significant discoveries in the etiology and pathogenesis of inherited retinal diseases (IRDs) have been made in the last few decades. Of the large number genes that cause IRDs, bi-allelic mutations in RPE65 lead to Leber Congenital Amaurosis type 2 (LCA 2), and can also result in phenotypes described as severe early childhood onset retinal dystrophy (SECORD) and Retinitis pigmentosa 20 (RP20). Following the publication of the successful Phase-III clinical trials of gene augmentation surgery for RPE65-related IRDs with voretigene neparvovec, the FDA ...
Source: Ophthalmic Genetics - October 20, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Bevacizumab for the treatment of intraretinal cystic spaces in a patient with gyrate atrophy of the choroid and retina.
CONCLUSION: Repeated intravitreal bevacizumab injections can result in anatomical and functional improvement of intraretinal cystic spaces in patients with gyrate atrophy of the choroid and retina. PMID: 30335551 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - October 20, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease.
Authors: Sodi A, Passerini I, Bacherini D, Boni L, Palchetti S, Murro V, Caporossi O, Mucciolo DP, Franco F, Vannozzi L, Torricelli F, Pelo E, Rizzo S, Virgili G Abstract BACKGROUND: The complement system has been implicated in the pathogenesis of age-related macular degeneration (AMD) and the CFH Y402H polymorphism has been suggested as a major risk factor for AMD. Recent evidences supported the role of inflammation in the pathogenesis of some retinal dystrophies. Aim of this study was to evaluate the prevalence of CFHY402H polymorphism in a group of Italian patients affected by atrophic AMD, Stargardt disease (ST...
Source: Ophthalmic Genetics - October 6, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Novel causative variants in patients with achromatopsia.
CONCLUSIONS: These novel variants expand the genotypes associated with ACHM and may help in future therapy development for ACHM. PMID: 30289319 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - October 6, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Association analysis of genetic polymorphisms and expression levels of selected genes involved in extracellular matrix turnover and angiogenesis with the risk of age-related macular degeneration.
CONCLUSIONS: We can conclude that disturbances in angiogenic homeostasis and processes of extracellular matrix turnover occurring in age-related macular degeneration-affected ocular tissues may be reflected in changes in systemic expression levels of the investigated genes. PMID: 30289322 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - October 6, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy.
CONCLUSIONS: We show that genetic testing may help to differentiate between optic atrophy, LCA, and CACNA1F-associated retinopathy at a much earlier age, in absence of electrophysiological examination and by widely overlapping phenotypes. PMID: 30260717 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - September 29, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype.
CONCLUSIONS: We present a patient with a novel p.Met571Thr pathogenic variation associated with an ADVIRC phenotype. SRH is a unique finding in ADVIRC patients and may correspond to peripheral exudative hemorrhagic chorioretinopathy. The BEST1 pathogenic variation p.Met571Thr might be the likely cause of ADVIRC in this patient. However, further study is necessary to determine whether this mutation is causative. PMID: 30222024 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - September 19, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

The uncommon occurrence of two common inherited disorders in a single patient: a mini case series.
CONCLUSIONS: If a patient's signs/symptoms cannot be explained by the working/known diagnosis, additional work up should be pursued for concomitant diseases. SS and STGD1 are commonly diagnosed inherited eye disorders and can coexist in one patient on rare occasions. PMID: 30156925 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 31, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Structural disease progression in PDE6-associated autosomal recessive retinitis pigmentosa.
CONCLUSIONS: We observed a progressive loss of EZ line width and Short-wavelength fundus autofluorescence (SW-AF) ring constriction over time. These results may serve as reference for better prognostic prediction and patients selection for clinical trials promoting cone rescue. PMID: 30153077 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 30, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Fundus phenotype in retinitis pigmentosa associated with EYS mutations.
CONCLUSIONS: we reported the mutation spectrum of a group of EYS-related RP patients including nine novel mutations and the associated clinical phenotypes. Our series is the largest group of EYS-related arRP patients in the Italian population. PMID: 30153090 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 30, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

MicroRNA-related polymorphisms in pseudoexfoliation syndrome, pseudoexfoliative glaucoma, and primary open-angle glaucoma.
CONCLUSIONS: This is the first study to report distinct associations of PEX, PEXG, and POAG in the same population with variants of genes involved in miRNA biogenesis and with miRNA genes' polymorphisms. Further studies in larger groups of patients of various origins are needed to confirm the reported preliminary results. PMID: 30148417 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 28, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Lurking below: massive choroidal invasion under a calcified tumor after attempted conservative therapy for retinoblastoma.
CONCLUSIONS: Active choroidal disease at the base of large, calcified tumors cannot be ruled out with ophthalmologic examination and noninvasive imaging; suspicion of disease activity at the base should remain high for patients presenting with multiple recurrent nodules over a calcified tumor. PMID: 30142285 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 26, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations.
CONCLUSIONS: This study illustrates the surgical challenges encountered in patients with Stickler syndrome. Additionally, infantile-onset glaucoma may be more prevalent than previously reported and presents a challenge in terms of management. A multidisciplinary approach is recommended to provide optimal care to these patients. PMID: 30130436 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 23, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A sibling study of isolated optic neuropathy associated with novel variants in the ACO2 gene.
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. We describe the second family with ACO2 variants to have an isolated optic neuropathy highlighting the importance of including this gene in genomic panels assessing inherited optic neuropathies. PMID: 30118607 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 18, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Apolipoprotein E polymorphism and age-related macular degeneration.
Authors: Yasri S, Wiwanitkit V PMID: 30102097 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 14, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Magnetic resonance imaging for tumor restaging after chemotherapy in retinoblastoma with optic nerve invasion.
CONCLUSION: MRI is a valuable tool for restaging of retinoblastoma and predicting residual optic nerve disease after neoadjuvant chemotherapy. Combined thickening and enhancement on MRI appeared to be a more reliable indicator of post-laminar invasion as compared to thickening or enhancement alone. PMID: 30089224 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 10, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

The treatment of refractory angle-closure glaucoma in a patient with X-linked juvenile retinoschisis.
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. Examination identified left intraocular pressure (IOP) of 52mmHg. Gonioscopy confirmed complete angle closure. Following failure of medical management and persistently raised left IOP (43-46mmHg), the patient underwent left phacoemulsification and intraocular lens insertion without complication. After surgery, his IOP reduced to 10-14mmHg on all follow up examinations without the n...
Source: Ophthalmic Genetics - August 8, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

CRX-linked macular dystrophy with intrafamilial variable expressivity.
CONCLUSION: We describe an intrafamilial variable expressivity of a CRX mutation causing an isolated macular dystrophy. PMID: 30067412 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 3, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Congenital stationary night blindness associated with morning glory disc malformation: a novel hemizygous mutation in CACNA1F.
Authors: Abdelkader E, AlHilali S, Neuhaus C, Bergmann C, AlMurshed T, Schatz P PMID: 30067413 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 3, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation.
CONCLUSIONS: A homozygous CLDN19 mutation can cause macular pseudocoloboma without evidence for systemic disease in children. This is the first reported family with CLDN19 mutations to have an ocular phenotype only; however, those identified to harbor biallelic CLDN19 mutations should be considered at risk for the extraocular manifestations that have previously been associated with mutations in the gene. PMID: 30067419 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 3, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A novel variant in IDH3A identified in a case with Leber congenital amaurosis accompanied by macular pseudocoloboma.
Authors: Sun W, Zhang Q PMID: 30058936 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 1, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Posterior amorphous corneal dystrophy in a patient with 12q21.33 deletion.
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 12q21.33 segment which was inserted into the proximal part of the long arm of one chromosome 13. The patient corroborates previous observations that PACD is a contiguous gene syndrome caused by combined haploinsufficiency of DCN, KERA, LUM, and EPYC and provides the first example of a balanced chromosome rearrangement involving 12q21.33 in an unaffected parent. PMID: 30058938 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 1, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Clinical, histopathological, and genetic aspects in one case of ligneous conjunctivitis.
Authors: Raimann R, Moya R, Anguita R, Kobus R, Pérez M, Gonzalez P Abstract 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 gen...
Source: Ophthalmic Genetics - August 1, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Gene therapy in inherited retinal degenerative diseases, a review.
This article will explore an overview of the clinical trials of gene supplementation therapy for retinal diseases that are underway or planned for the near future. PMID: 30040511 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 25, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Early-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG).
Authors: Khan AO Abstract 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. Clinical exam confirmed retinal dystrophy. She also had developmental disability and c...
Source: Ophthalmic Genetics - July 19, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Bilateral angle closure glaucoma in a 28-year-old Cohen syndrome patient.
Authors: Li A, Gandhi A, Wang H, Traboulsi EI PMID: 29985682 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 11, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Ectopic thyroid choroidal mass in linear nevus sebaceous syndrome.
Authors: Echegaray JJ, Yeaney G, Chen R, Bellerive C, Singh AD PMID: 29989474 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 11, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Retinal involvement in m.3243A > G carriers.
Retinal involvement in m.3243A>G carriers. Ophthalmic Genet. 2018 Jul 06;:1-2 Authors: Finsterer J, Zarrouk-Mahjoub S PMID: 29979901 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 8, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants.
CONCLUSIONS: ADOA patients presented variable clinical manifestations. Novel OPA1 pathogenic variants are the main genetic defect for Chinese ADOA cases. NGS may be a useful molecular testing tool for atypical ADOA. PMID: 29952689 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 30, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Two-year progression analysis of RPE65 autosomal dominant retinitis pigmentosa.
CONCLUSION: adRP due to a mutation in the gene encoding RPE65 phenocopied choroideremia. Based on our analysis of the 2-year disease progression in this patient, RPE65 adRP is mild and has a slow rate of disease progression. PMID: 29947567 [PubMed - in process] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 28, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

The association of matrix metalloproteinases polymorphisms and interleukins in advanced age-related macular degeneration.
CONCLUSIONS: MMP1 rs1799750 1G/2G genotype was found to play a significant role in the development of eAMD at the age of less than 65 years. IL-1β concentration was significantly higher in eAMD patients for MMP1 rs1799750 1G/1G genotype and MMP7 rs11568818 A/G genotype compared with control group subjects. PMID: 29947568 [PubMed - in process] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 28, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A novel MIP mutation in a Chinese family with congenital cataract.
CONCLUSIONS: The novel missense mutation c.572C>G(p.P191R)at exon 3 of the MIP gene was identified in a Chinese family of congenital cataract. The mutation affects the traffic of MIP protein in the cells and reduces the expression level of MIP protein in the cell membrane. The mutation of MIP gene reduces the swelling ratio of Xenopus oocytes. PMID: 29947569 [PubMed - in process] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 28, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Identification and characterization of the VAX2 p.Leu139Arg variant: possible involvement of VAX2 in cone dystrophy.
CONCLUSIONS: This study raises the interesting possibility for evaluating VAX2 as a candidate gene for cone dystrophy. PMID: 29947570 [PubMed - in process] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 28, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Case series: effect of dermis-fat implants in different late onset socket problems encountered in retinoblastoma patients.
CONCLUSION: Socket reconstruction by autologous dermis-fat exchange may solve different post enucleation socket problems. However, shrinking of the transplanted fat may occur and require additional procedures. PMID: 29939822 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 27, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Vitamin A in Stargardt disease-an evidence-based update.
CONCLUSIONS: There are few studies on the effect of vitamin A in STGD1. The scarcity and inconclusiveness of evidence available impel further research efforts to reach a more confident conclusion. Currently, recommendations to avoid vitamin A dietary supplementation rely mainly on a theoretical background. Animal studies on vitamin A substitute as a possible therapeutic approach in preventing or slowing vision loss in STGD1 seems promising but further clinical trials are needed to verify the results. PMID: 29939824 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 27, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Investigation of the effect of dietary docosahexaenoic acid (DHA) supplementation on macular function in subjects with autosomal recessive Stargardt macular dystrophy.
CONCLUSIONS: No perceived effect of DHA supplementation on macular function was observed in a small sample of Stargardt patients who were compliant with the protocol as estimated by changes in serum DHA. This study will help design future studies of the effect of DHA supplementation on retinal function in cohorts with retinal dystrophies. PMID: 29912604 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 20, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

22q11.2 microduplication syndrome and juvenile glaucoma.
CONCLUSIONS: 22q11.2 microduplication syndrome can be associated with juvenile glaucoma. Trabeculectomy may be complicated by persistent hypotony. Deep sclerectomy appears to be a better surgical option, although the presence of a thin sclera may result in conversion to trabeculectomy. PMID: 29902089 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 15, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A novel deletion downstream of the PAX6 gene identified in a Chinese family with congenital aniridia.
CONCLUSION: A novel deletion mutation was identified within the PAX6 downstream region that results in congenital aniridia. PMID: 29902091 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 15, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Diurnal variations of foveoschisis by optical coherence tomography in patients with RS1 X-linked juvenile retinoschisis.
CONCLUSION: The central foveal thickness varies during daytime hours in patients with XLRS. This finding may explain the inconsistent and heterogeneous responses to treatment with CAIs and necessitate standardization of measurement times in treatment trials for XLRS as well as in the routine ophthalmic evaluation of these patients. PMID: 29902095 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 15, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC.
CONCLUSIONS: The mutations found in our study not only broaden the mutation spectrum of ADGRV1, but also provide assistances for future genetic diagnosis and treatment for Usher syndrome patients. PMID: 29883260 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 10, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Corrigendum.
Authors: PMID: 29877746 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 8, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Long-term follow-up of a CRB1-associated maculopathy.
CONCLUSIONS: Our clinical case allowed us to observe three different stages in the natural history of this particular CRB1-associated macular phenotype: a foveoschisis phenotype, cystoid macular abnormalities involving outer and inner retinal layers and macular atrophy. CRB1 mutations may be a rare cause of foveal schisis which progressively evolves in atrophic maculopathy and the clinician should be aware of this unusual macular phenotype. PMID: 29869924 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 7, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Analysis of candidate genes ZEB1 and LOXHD1 in late-onset Fuchs' endothelial corneal dystrophy in an Indian cohort.
DISCUSSION: While mutations in ZEB1 contributed to 2% of the late-onset FECD cases, the exact role of the two VUS identified in ZEB1 and LOXHD1 in FECD pathogenesis needs to be studied. PMID: 29799290 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 1, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

The role of apolipoprotein E (rs7412 and rs429358) in age-related macular degeneration.
CONCLUSION: Our data demonstrated that ApoE 4/2 genotype was less frequently observed in old patients (65 years and more) with exudative AMD compared to old healthy controls. It leads to hypothesis on the protective effect of ApoE 4/2 to develop AMD in the elderly. PMID: 29851526 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 1, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Detection and reporting of RB1 promoter hypermethylation in diagnostic screening.
CONCLUSIONS: Promoter hypermethylation was detected in 11.4% of the retinoblastoma tumors and should be tested for in routine RB1 screening programmes. Constitutional samples are not expected to display RB1 hypermethylation. In a small proportion of cases it may not be possible to use this somatic change in patient management. PMID: 29851531 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 1, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Corrigendum.
Authors: PMID: 29851533 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 1, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease.
CONCLUSIONS: Our findings underscore the importance an ophthalmologist plays in informing patients regarding the options now available for using prenatal and preimplantation genetic diagnosis to avoid having a child with a potentially devastating genetic form of eye disease or ocular cancer. This strategy is highly relevant, particularly given the limited options currently available for treating these conditions. PMID: 29781739 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 22, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research