Novel mutation in SLC4A7 gene causing autosomal recessive progressive rod-cone dystrophy.
CONCLUSIONS: We report a case of progressive rod-cone dystrophy caused by a novel mutation in SLC4A7, a gene coding the sodium bicarbonate cotransporter NBC3, underscoring the importance of ion homeostasis for photoreceptor function and maintenance. PMID: 32594822 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 1, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

No association between POU4F1, POU4F2, ISL1 polymorphisms and normal-tension glaucoma.
CONCLUSIONS: To the best of our knowledge, this is the first report exploring the association between genes regulating RGC development and NTG susceptibility. Our data could provide a reference for further researches that focus on finding additional potential SNPs of POU4F2, POU4F1, ISL1 or other RGC development genes for NTG. PMID: 32597291 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 1, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Oliver McFarlane syndrome and choroidal neovascularisation: a case report.
CONCLUSION: We report the first case of CNV secondary to OMS and its successful treatment with intravitreal anti-vascular endothelial growth factor injections. PMID: 32586184 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 27, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Association of transcription factor 7-like 2 (rs7903146) gene polymorphism with diabetic retinopathy.
CONCLUSION: The present study revealed the association of TCF7L2 (rs7903146) polymorphism with DR susceptibility within diabetic patients. Therefore, TCF7L2 (rs7903146) gene polymorphism may have a prognostic value for diabetic retinopathy in the Egyptian population. Further work is required to confirm the association of this polymorphism as a risk for DR. PMID: 32564636 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 24, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Content generation for patient-reported outcome measures for retinal degeneration therapeutic trials.
CONCLUSIONS: Items for a PRO measure have been drafted and evaluated for interpretability in the target inherited retinal degeneration patient population. Content validity for the items was established through a process of in-depth interviews, cognitive interviews, and pilot interviews. PMID: 32571121 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 24, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Intermittent exotropia - a potential confounding factor for full-field electroretinography.
Authors: Alsalamah AK, Khan Z, Roque J, Khan AO PMID: 32552214 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 21, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Optical coherence tomography in the evaluation of retinitis pigmentosa.
CONCLUSION: In this review, we discuss the multiple applications of OCT as a tool in the monitoring of retinitis pigmentosa and its potential use as an outcome measurement in current and future therapeutic endeavors. PMID: 32552399 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 21, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations.
Authors: Han E, Patel NA, Yannuzzi NA, Laura DM, Fan KC, Negron CI, Prakhunhungsit S, Thorson WL, Berrocal AM Abstract Coats plus syndrome (CP) is a rare condition characterized by bilateral exudative retinal telangiectasias with associated systemic disorders primarily affecting the brain, bone and gastrointestinal tract due to a mutation in the CTC1 gene. CTC1 mutations are also known to cause dyskeratosis congenita (DC), which is an inherited bone marrow failure syndrome characterized by skin pigmentation abnormalities, nail dystrophy, and oral leukoplakia. This is the first reported case of a patient diagnosed w...
Source: Ophthalmic Genetics - June 17, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.
We present the molecular findings of the Oxford phenotype-based NGS panels for genetic testing in IRD. METHODS: Results of 655 consecutive patients referred for phenotype-based panel testing over 54 months were analysed to assess diagnostic yield. RESULTS: Variants were identified in 450 patients (68.7%). The overall diagnostic yield from phenotype-based panels was 42.8%. The diagnostic yield was highest from panels representing distinct clinical phenotypes: Usher panel 90.9% and congenital stationary night blindness panel 75.0%. Retinitis pigmentosa/rod-cone dystrophy was the commonest presenting phenotype (n...
Source: Ophthalmic Genetics - June 17, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Bilateral atypical lamellar holes in a patient with oculocutaneous albinism.
CONCLUSION: Optical coherence tomography can be helpful in diagnosing albinism. Variable expressivity leads to a range of macular pathology in albinism which may include atypical lamellar holes as described in this patient. PMID: 32543925 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 17, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Bilateral phototherapeutic keratectomy for corneal macular dystrophy in an adolescent: case report and review of the literature.
CONCLUSION: Phototherapeutic keratectomy is an effective means of visual restoration in patients with macular corneal dystrophy and may delay penetrating keratoplasty. Patients should be counselled regarding the high risk of recurrence. This is the first reported case of a CHST6 gene positive patient with MCD that was treated with phototherapeutic keratoplasty. PMID: 32543930 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 17, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Molecular analysis confirms retinoblastoma diagnosis in a histologically undifferentiated retinal tumor in an adult.
We present a case of a white retinal tumor in a 42-year-old woman that progressed slowly over 3 years and on enucleation an undifferentiated tumor was found without a conclusive diagnosis. Molecular analysis identified RB1 pathogenic variant that confirmed retinoblastoma diagnosis in this discordant clinicopathologic presentation of the tumor. PMID: 32543965 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 17, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Unrecognized ROPER in a child with a novel pathogenic variant in ZNF408 gene.
CONCLUSION: FEVR is an important differential diagnosis in premature infants with retinopathy, as clinical presentation can overlap with common findings in ROP. Maintaining high suspicion for the disease is especially critical in cases with findings unusual for ROP. FEVR in the presence of prematurity has been well described, falling under the proposed term ROPER. Genetic testing is key to confirm diagnosis. PMID: 32530348 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 14, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Identification of a possible association of JAK2 in development of microphthalmia, anophthalmia, and coloboma (MAC) complex in a child with 9p deletion and duplication.
CONCLUSION: We present the first case of MAC spectrum disorder that is related to 9p deletion and duplication. The link between the associated genetic abnormality and the phenotypic features is yet to be established. Duplication of JAK2 gene, which is within the same region of abnormalities, may have potentiated the development of MAC spectrum disease. PMID: 32506980 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 10, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Macular crystalline inclusions in Sj ögren-Larsson syndrome are dynamic structures that undergo remodeling.
CONCLUSIONS: We conclude that macular inclusions in SLS are not simply inert deposits, but are dynamic structures that form over time and are subject to remodeling. This conclusion provides new insight into the interplay between the metabolic defect and retinal pathology in SLS, and raises the potential for new therapeutic approaches to reverse some aspects of the maculopathy. PMID: 32506993 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 10, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A novel variant in DOCK6 gene associated with Adams-Oliver syndrome type 2.
CONCLUSION: The discovery of this new likely pathogenic variant enriches the genotypic spectrum of DOCK6 gene and contributes to genetic diagnosis and counseling of families with AOS. Neurologic and ocular findings appear to be consistent with AOS type 2 for which multidisciplinary clinical evaluation is crucial. PMID: 32498638 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 7, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Optimizing the storage of chemotherapeutics for ophthalmic oncology: stability of topotecan solution for intravitreal injection.
CONCLUSIONS: . This study confirms the stability of frozen intravitreal topotecan syringes and will help optimize the use of this chemotherapy modality at institutions with low resources. Storage of aliquots will also help reduce personnel exposure to chemotherapy at hospital pharmacies. PMID: 32490703 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 4, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Associations between IL1RAP rs4624606, IL1RL1 rs1041973, IL-6 rs1800795, and HTRA1 rs11200638 gene polymorphisms and development of optic neuritis with or without multiple sclerosis.
CONCLUSIONS: Our study showed that IL1RAP rs4624606, IL-6 rs1800795, and HTRA1 rs11200638 are not associated with an increased risk of developing ON. However, the IL1RL1 rs1041973 A/C genotype might be associated with an increased risk of developing ON. PMID: 32449403 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 27, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia.
CONCLUSIONS: This case is the first report of a SVA insertion in the CHM gene causing choroideremia. PMID: 32441177 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 24, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy.
Authors: Guimaraes TAC, Georgiou M, Robson AG, Michaelides M Abstract KCNV2: -associated retinopathy or "cone dystrophy with supernormal rod responses" is an autosomal recessive cone-rod dystrophy with pathognomonic ERG findings. This gene encodes Kv8.2, a voltage-gated potassium channel subunit that acts as a modulator by shifting the activation range of the K+ channels in photoreceptor inner segments. Currently, no treatment is available for the condition. However, there is a lack of prospective long-term data in large molecularly confirmed cohorts, which is a prerequisite for accurate patient counselli...
Source: Ophthalmic Genetics - May 24, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A de novo mutation in PITX2 underlies a unique form of Axenfeld-Rieger syndrome with corneal neovascularization and extensive proliferative vitreoretinopathy.
Conclusions: It is important to consider mutations in PITX2 in atypical cases of anterior segment dysgenesis that also present with abnormalities in the angiogenesis of the anterior and posterior segments. PMID: 32429730 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 22, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Long-term resolution of chronic macular edema after a single dose of intravitreal dexamethasone in familial retinal arterial macroaneurysm.
Conclusion: Intravitreal dexamethasone injections have beneficial anatomical and visual outcomes in FRAM patients with persistent macular edema poorly responsive to intravitreal injections. PMID: 32429784 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 22, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Programmed screening for retinoblastoma enhances early diagnosis and improves management outcome for high-risk children.
Conclusion: Even in the absence of genetic testing, screening for children with high risk for Rb is effective in enhancing early diagnosis, improving visual outcome, and increasing eye salvage rate with limited exposure to treatment burden. PMID: 32432497 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 22, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Senior-L øken syndrome and intracranial hypertension.
Conclusion: The association of intracranial hypertension in a ciliopathy is a rare occurrence.  The aetiology of intracranial hypertension in this case is likely multi-factorial, due to renal transplantation, post-renal transplant medications and/ or weight gain.  With evidence of cilia involvement in the central nervous system, ciliary dysfunction may contribute to intracranial hypertension, and should be considered in these patients presenting with headaches. Diagnosis may be difficult with advanced retinal degeneration and baseline retinal nerve fibre layer thinning. Treatment requires careful monitoring of re...
Source: Ophthalmic Genetics - May 22, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Cystoid macular edema precipitated by altitude in a patient with X-linked retinitis pigmentosa.
Conclusion: Vascular and metabolic changes caused by retinal degeneration in XLRP may predispose to the development of CME under the hypoxic conditions experienced at high altitudes. We advise that retinal specialists treating patients with RP should caution them on traveling to high altitudes that could precipitate or exacerbate CME. PMID: 32400255 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 15, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Correction.
Authors: PMID: 32400270 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 15, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Association of combined complement factor H Y402H and ARMS2/LOC387715 A69S polymorphisms with age-related macular degeneration: an updated meta-analysis.
Conclusion: This updated analysis showed a strong synergistic and positive multiplicative effect of these two genes indicating that there is common pathway of ARMS2/LOC387715 A69 S and CFH Y402 H in AMD pathogenesis which may be complement system pathway. PMID: 32406777 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 15, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A novel c.287G > T NDP missense mutation in a Chinese family with Norrie disease.
Conclusion: The c.287 G > T of NDP is a novel mutation responsible for Norrie disease in a Chinese family. PMID: 32393149 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 14, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Atypical and ultra-rare Usher syndrome: a review.
Authors: Nolen RM, Hufnagel RB, Friedman TB, Turriff AE, Brewer CC, Zalewski CK, King KA, Wafa TT, Griffith AJ, Brooks BP, Zein WM Abstract Usher syndrome has classically been described as a combination of hearing loss and rod-cone dystrophy; vestibular dysfunction is present in many patients. Three distinct clinical subtypes were documented in the late 1970s. Genotyping efforts have led to the identification of several genes associated with the disease. Recent literature has seen multiple publications referring to "atypical" Usher syndrome presentations. This manuscript reviews the molecular etiology of ...
Source: Ophthalmic Genetics - May 8, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Optical coherence tomography-angiographic vascular densities in Familial Mediterranean Fever (FMF) Patients with M694V Mutations.
This study compared the macular optical coherence tomography angiography measurements in FMF patients who were genetically verified to carry the M694V mutation of the MEFV gene to those in healthy controls. The vessel densities (VDs) of superficial (SVP) and deep vascular plexus (DVP) of the retina, and choriocapillaris, foveal avascular zone (FAZ) perimetry, foveal VD 300µ around the FAZ (FD-300), acirculatory index (AI) and non-flow area were measured with  optical coherence tomography angiography (OCT-A). The FMF and control groups were matched for age and gender. Compound heterozygous pathogenic variants wer...
Source: Ophthalmic Genetics - May 8, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Living with type I Usher syndrome: insights from patients and their parents.
Conclusions: This research provides an overview of symptoms experienced by patients with USH1 and highlights the dramatic impact these have on patients' lives, allowing the identification of concepts of importance when evaluating therapeutic treatments in development for RP. PMID: 32367747 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 7, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A family of fuchs endothelial corneal dystrophy and anterior polar cataract with an analysis of whole exome sequencing.
Conclusion: We introduced a family of FECD with APC, with no known causative gene found by WES, inferring that there may be a novel gene-locus in the non-coding regions of genome, which needs further study by WGS. The contribution of this study was to exclude the possibility of the rare phenotype pathogenic site in exome and narrow the scope of pathogenic genes. PMID: 32367751 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 7, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

"Eye genetics at the fork in the road" 2017 Franceschetti Lecture, Leeds UK.
"Eye genetics at the fork in the road" 2017 Franceschetti Lecture, Leeds UK. Ophthalmic Genet. 2020 May 03;:1-7 Authors: Mackey D Abstract Inherited retinal diseases - a disparate group of eye disorders with over 200 known genetic causes - are now the leading cause of blindness in working-age adults in developed countries. Until recently there was no cure for genetic eye diseases. After over a century of defining inherited retinal diseases with their phenotypes, and then several decades of discovering associated genes and their mutations, we now have gene therapy, stem cell therapy, predictiv...
Source: Ophthalmic Genetics - May 5, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Nonsyndromic retinitis pigmentosa caused by two novel variants in the HGSNAT gene in a Chinese family.
Authors: Long Y, Li S, Dai L, Liu X, Yin X, Ren J, Guo H, Liu Y, Meng X, Li S PMID: 32347150 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 1, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Rates of diagnostic genetic testing in a tertiary ocular genetics clinic.
Conclusions: Ocular genetic testing is becoming an increasingly beneficial tool for diagnosing ocular disease. However, to date, patients do not utilize this service fully. At the OGC, there are several main drivers for this lack of testing, namely finances, interest/availability, and diagnostic workup. As more ocular genetics clinics are established, it will be imperative to address reasons for forgoing genetic testing and to develop strategies to encourage patients to pursue this testing. PMID: 32340498 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 29, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Juvenile cataract in association with tuberous sclerosis complex.
Conclusions: Recent evidence suggests that mTOR signaling may play a role in cataract formation which could explain the relatively high incidence of juvenile cataract in this population. Juvenile cataract is a potentially under-recognized ocular manifestation of TSC. PMID: 32340510 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 29, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A novel homozygous c.67C > T variant in retinol binding protein 4 (RBP4) associated with retinitis pigmentosa and childhood acne vulgaris.
Conclusions: We describe a case of retinitis pigmentosa associated with acne vulgaris and highlight the role of this systemic manifestation of retinol deficiency in confirming pathogenicity of the novel variant. Given the small size of the genomic RBP4 DNA (0.6kb), gene therapy using an adeno-associated viral vector with subretinal delivery has great potential to treat this severe childhood-onset blinding retinal disease. In addition, ubiquitous expression of RBP4 supports the development of in vitro functional assays to test the vector potency for clinical use. PMID: 32323592 [PubMed - as supplied by publisher] (Sourc...
Source: Ophthalmic Genetics - April 25, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Tumor necrosis factor (TNF)-308, -1031, and angiotensin-converting enzyme (ACE) DD/II polymorphisms' role in Behcet's disease with and without uveitis: a meta-analysis.
Conclusion: This meta-analysis revealed a significant protective effect of TNF-308 AA genotype against ocular involvement in Behcet's disease. PMID: 32323594 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 25, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Paroxonase (PON1-L55M) gene polymorphism and its association with Beh çet's disease among Iranian population.
Paroxonase (PON1-L55M) gene polymorphism and its association with Behçet's disease among Iranian population. Ophthalmic Genet. 2020 Apr 24;:1-2 Authors: Mesgari S, Nazm SA, Bonyadi M, Jabbarpoor Bonyadi MH, Soheilian M PMID: 32326787 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 25, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

"Role of polymorphisms of the NLRP3 inflammasome in uveitis".
"Role of polymorphisms of the NLRP3 inflammasome in uveitis". Ophthalmic Genet. 2020 Apr 21;:1-2 Authors: Sarny S, Lindner E, Anticic M, El-Shabrawi Y PMID: 32316811 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 24, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review.
Conclusion: Ocular manifestations are common in Stickler patients, but the comparison between studies was difficult because of inconsistencies in diagnostic and inclusion criteria by different studies. Sight-threatening complications such as retinal detachments are common but although prophylactic therapy is reported to be effective in retrospective studies, evidence from randomized trials is missing. PMID: 32316871 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 24, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Albinism and a mitochondrial DNA deletion.
Authors: Chilibeck CM, Glamuzina EE, Ung CY, Blakely EL, Taylor RW, Vincent AL PMID: 32290753 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 17, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Genetic susceptibility to hydroxychloroquine retinal toxicity.
Conclusions and relevance: Further larger studies, with whole-exome analysis and consideration of additional modifying genes are needed. PMID: 32281450 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 15, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Optical coherence tomography and optical coherence tomography angiography imaging in Bietti crystalline dystrophy.
Conclusion: In BCD, crystallinedeposits, ORTs and retinal vascular morphology can be shown in detail using OCT and OCTA. PMID: 32281452 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 15, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Asymmetric choroidal hypopigmentation in a Son and mother with Waardenburg syndrome type I.
Conclusion: Our report demonstrates that highly asymmetric choroidal hypopigmentation is within the clinical spectrum of WS-I.Abbreviations OCT: Optical coherence tomography; WS-I: Waardenburg syndrome type 1. PMID: 32281454 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 15, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Association between diabetic retinopathy and interleukin-related gene polymorphisms: A machine learning aided meta-analysis.
Conclusion: rs1800795 and rs1800796 in the IL-6 gene and rs1800896 in IL-10 gene are not related to the incidence of DR. Mutations in multiple SNPs for each DR patient still need to be specifically assessed to increase prediction accuracy. PMID: 32281460 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 15, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss.
Conclusions: Providing a correct diagnosis for patients with visual impairment and hearing loss can be challenging for clinicians and their patients, but it can greatly improve clinical care and outcomes. We recommend an algorithm that includes multidisciplinary collaboration, careful clinical evaluation, strategic molecular testing, and consideration of a broad differential diagnosis. PMID: 32281467 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 15, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Evaluation of the association between five genetic variants and primary open-angle glaucoma in a Han Chinese population.
Conclusion: Our findings indicated that GLIS3 (rs736893) was associated with POAG in this Chinese population. Further genetic epidemiologic studies and functional work are necessary to reveal their pathogenesis with POAG. PMID: 32281515 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 15, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

TUBGCP4 - associated microcephaly and chorioretinopathy.
Conclusions MCCRP2 caused by pathogenic variants in PLK4 is well established as a ciliopathy disease. The role of TUBGCP4 is not well established in the cilium physiology. MCCRP3 may be part of the ciliopathy spectrum. PMID: 32270730 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 11, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Heterozygous structural variation mimicking homozygous missense mutations in NEU1 associated with presenting clinical signs in eyes alone.
Conclusion: The results of this case remind us of the limitations of routine exome sequencing and the need to perform segregation studies and deletion/duplication analysis or WGS if parental studies do not support exome findings. In addition, patients with sialidosis may present with ocular manifestations without systemic signs early in the disease course. PMID: 32270733 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 11, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research