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

Slowly progressive retinitis pigmentosa caused by two novel mutations in the MAK gene.
CONCLUSIONS: The natural history of this individual's RP is consistent with previously described MAK mutations, being significantly milder than that associated with other photoreceptor ciliopathies. We suggest inclusion of MAK as part of wider genetic testing in all individuals presenting with RP. PMID: 29781741 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 22, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

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