Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
Conclusion: Despite the small number our study suggests that early diagnosis does not prevent retinopathy but might contribute to a milder phenotype with retained good visual acuity over time. OCT and AF are reliable non-invasive diagnostic tools to estimate the progression of early-stage retinal changes in LCHADD patients. PMID: 33107778 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - October 29, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

SIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family.
Authors: Deepthi A, Fakhoury O, Daher M, Gambarini A, El-Hayek S, Megarbane A PMID: 33108933 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - October 29, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Progressive sector retinitis pigmentosa due to c.440G > T mutation in SAG in an Australian family.
CONCLUSION: SAG adRP presents with a reduced full-field ERG response consistent with a rod-cone dystrophy in mid-life despite a sector RP phenotype. Centripetal progression of the disease into the macula can be tracked by OCT and FAF imaging. PMID: 33047631 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - October 15, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Ophthalmic findings and a novel CTC1 gene mutation in coats plus syndrome: a case report.
CONCLUSIONS: The present report expanded the genotype and phenotype spectrum of CTC1 gene associated with Coats plus syndrome. PMID: 33034244 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - October 11, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy.
CONCLUSIONS: Our findings suggest that in the studied cohort, the optimal window for therapeutic intervention is the second decade of life and residual EZ span and HAR area can be considered as efficacy outcome measures. Further studies on larger samples with different PRPF31 mutations and longer follow-up duration are recommended. PMID: 32985313 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - September 30, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Severe retinal degeneration in a patient with Canavan disease.
Conclusion: We wonder if retinal degeneration may not have been previously recognized as a feature of Canavan disease. We highlight findings from animal models of Canavan disease to further support the association between Canavan disease and retinal degeneration. PMID: 32975148 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - September 26, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Exclude hereditary and acquired differential disorders before attributing retinoschisis to Kears-Sayre syndrome.
Authors: Finsterer J PMID: 32975160 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - September 26, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Investigating the role of BEST1 and PRPH2 variants in the molecular aetiology of adult-onset vitelliform macular dystrophies.
Conclusion: In conclusion, AVMD is a genotypic and phenotypic heterogeneous disease. The genetic aetiology could not be explained by sequencing BEST1 and PRPH2 genes in the AVMD patients; however, the variant of PRPH2 could be a cause of predisposition relevant to the phenotype. PMID: 32942919 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - September 20, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Ocular manifestations in classic homocystinuria.
CONCLUSIONS: Eye abnormalities are very frequent in late-diagnosed HCU patients. The presence of ectopia lentis should always raise the diagnostic hypothesis of HCU. PMID: 32940091 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - September 19, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Cataract in You-Hoover-Fong syndrome: TELO2 deficiency.
CONCLUSIONS: We report nuclear-lamellar cataracts in two siblings diagnosed with You-Hoover-Fong syndrome. PMID: 32940098 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - September 19, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A > G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy.
CONCLUSIONS: The proband's pathogenic variant, c.1024 A> G (p.K342E), is located in the GTPase domain of OPA1 and causes changes in the protein structure by affecting the oligomerization pattern thus resulting in ADOA. Identifying the pathogenic potential of the missense mutations in the OPA1 gene using neoteric protein modeling techniques would help in the early detection of ADOA in patients who have family history of blindness. This action would help in providing early follow up, possible treatment in the future, and genetic counseling. Abbreviations: ADOA: Autosomal Dominant Optic Atrophy; CYCS: Caspase Activato...
Source: Ophthalmic Genetics - September 19, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A variant in the RP1L1 gene in a family with occult macular dystrophy in a predicted intrinsically disordered region.
CONCLUSIONS: Although, the major pathogenic variant of OMD is p.Arg45Trp, multiple reports indicate that the region between p.1194 and p.1201 is another hot spot of OMD. The PONDR analysis predicted that the RP1L1 molecule is one of the intrinsically disordered proteins. It is speculated that the region around p.1200 is essential for the normal function of the RP1L1 molecule, and the missense variants of that area cause the development of OMD. PMID: 32940107 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - September 19, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Identification of a novel TGFBI gene mutation (p.Serine524Cystine) associated with late-onset recurrent epithelial erosions and Bowman layer opacities.
CONCLUSIONS: A novel TGFBI missense mutation is associated with a late-onset Bowman layer dystrophy. Given the atypical clinical appearance and course, molecular genetic analysis was utilized to establish a definitive diagnosis. PMID: 32880217 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - September 8, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

CERKL mutation causing retinitis pigmentosa(RP) in Indian population - a genotype and phenotype correlation study.
CONCLUSIONS: Phenotype associated with CERKL mutation appears clinically discrete from other commonly encountered phenotypes of inherited retinal dystrophies. Recognizing this typical genotype phenotype correlation will help clinicians to identify this form of RP, prognosticate the disease and segregate candidates for futures gene therapy. PMID: 32865075 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - September 2, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Atypical presentation of Cat Eye Syndrome in an infant with Peters anomaly and microphthalmia with cyst.
CONCLUSIONS: The co-occurrence of unilateral Peters anomaly with contralateral microphthalmia with cyst in Cat Eye Syndrome is rare and demonstrative of the syndrome's phenotypic variability. The medical and surgical management of these patients may require a multidisciplinary approach and must be tailored to the individual findings and overall systemic health of the patient. PMID: 32865081 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - September 2, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Assessment of incorporation of the International Committee for Classification of Corneal Dystrophies (IC3D) in literature.
Authors: AlRyalat SA, Jaber BA PMID: 32856495 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 30, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Association study of toll-like receptors 4 polymorphisms and the risk of age-related macular degeneration: a meta-analysis.
CONCLUSIONS: Meta-analysis suggested that there is an association between TLR4 gene rs4986790 polymorphism and AMD susceptibility, while no association between rs4986791 polymorphism and AMD susceptibility. PMID: 32844696 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 29, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Assessment of CFH and HTRA1 polymorphisms in age-related macular degeneration using classic and machine-learning approaches.
Authors: Martínez-Velasco A, Perez-Ortiz AC, Antonio-Aguirre B, Martínez-Villaseñor L, Lira-Romero E, Palacio-Pastrana C, Zenteno JC, Ramirez I, Zepeda-Palacio C, Mendoza-Velásquez C, Camacho-Ordóñez A, Ortiz Bibriesca DM, Estrada-Mena FJ Abstract Background CFH and HTRA1 are pivotal genes driving increased risk for age-related macular degeneration (AMD) among several populations. Here, we performed a hospital-based case-control study to evaluate the effects of three single nucleotide polymorphisms (SNPs) among Hispanics from Mexico. Materials and methods 122 cases and 249 ...
Source: Ophthalmic Genetics - August 27, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Ocular findings of albinism in DYRK1A-related intellectual disability syndrome.
CONCLUSIONS: This is, to the best of our knowledge, the first report of ocular findings of albinism in a case of DYRK1A-related intellectual disability syndrome. We propose that ocular albinism is a novel ocular phenotype of DYRK1A-related disease. Ophthalmic exams in patients with this diagnosis should include thorough evaluation for ocular albinism, including VEPs. PMID: 32838606 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 27, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A novel missense mutation locus of cadherin 23 and the interaction of cadherin 23 and protocadherin 15 in a patient with usher syndrome.
Authors: Zheng C, Ren X, Xing D, Bu S, Wen D, He Y, Zhang J, Dong L, Li X PMID: 32835555 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 26, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Autofluorescence in female carriers with choroideremia: A familial case with a novel mutation in the CHM gene.
CONCLUSIONS: In female carriers of choroideremia and X-linked retinitis pigmentosa, differential diagnosis may be challenging. A speckled pattern of low- and high-density in autofluorescence is commonly found in female carriers of choroideremia. FAF is a powerful tool for making a correct clinical diagnosis because the pattern in FAF is much more apparent than the visible retinal changes obtained by fundoscopy. Although it is crucial to perform molecular analysis to confirm the diagnosis, FAF is useful when genetic testing may not be readily available. PMID: 32835561 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 26, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Genomic analysis of adult case of ocular surface giant congenital melanocytic nevus and associated clinicopathological findings.
CONCLUSION: This is the first reported adult case including genomic analysis of an ocular surface giant congenital melanocytic nevus. The case shows a possible association between periorbital congenital melanocytic nevi and giant conjunctival nevi, and underscores the possible role that targeted drug therapies may have in malignant transformation of these conditions. PMID: 32814477 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 21, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

High-resolution photoreceptor imaging analysis of patients with autosomal dominant retinitis pigmentosa (adRP) caused by HK1 mutation.
CONCLUSIONS: Although the systemic phenotypes were found to be associated with the HK1 mutations, only the E847K mutation can cause a non-syndromic photoreceptor degeneration. Our study strengthened the hypothesis that the amino acid E847 might play a critical role in the maintenance of the morphology and function of the photoreceptors. PMID: 32814480 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 21, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Inherited retinal degeneration current genetics practices - a needs assessment.
CONCLUSION: Future larger-scale studies are warranted to provide additional insight into these genetics related practices and where genetic counselors are needed in this field. PMID: 32808561 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 20, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Novel compound heterozygous pathogenic BBS5 variants in Filipino siblings with Bardet-Biedl syndrome (BBS).
CONCLUSION: These are probably the first reported BBS5 mutations causing Bardet-Biedl syndrome in the Philippines. Patients were managed by a multi-disciplinary team and the parents were counseled regarding the prognosis and additional complications associated with the syndrome. PMID: 32811249 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 20, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Corneal endothelial alterations in recessive cornea plana: a report of four patients and review of literature.
Authors: Ramappa M, Achanta DSR, Mohamed A, Chaurasia S PMID: 32811257 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 20, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A novel CRYGC E128* mutation underlying an autosomal dominant nuclear cataract in a south Indian kindred.
CONCLUSION: This study identified a novel CRYGC mutation, E128* to cause autosomal dominant congenital nuclear cataract in a large south Indian family. Our study provides a new insight onto how the mutation might affect the γC-crystallin structure and function besides emphasizing the need for genetic diagnosis toward vision restoration. PMID: 32811259 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 20, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Variants at codon 838 in the GUCY2D gene result in different phenotypes of cone rod dystrophy.
CONCLUSIONS: We presented the phenotypes of three Chinese adCRD families carrying different variants at codon 838 of the GUCY2D gene. The R838S variant is a novel genotype associated with GUCY2D-CRD. The R838H variant can cause severe retinal features. Our findings enhance the understanding of GUCY2D phenotypic diversity. PMID: 32811265 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 20, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

The spermatogenesis-associated protein-7 (SPATA7) gene - an overview.
CONCLUSION: Most of the mutations in the SPATA7 are nonsense or frameshifts and are predicted to lead to loss of function. Clinical heterogeneity is often seen in patients with SPATA7 mutations. Animal models of SPATA7 knockout indicate that the protein has a key role in organizing the ciliary protein complexes. PMID: 32799588 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 19, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Simultaneous identification of clinically relevant RB1 mutations and copy number alterations in aqueous humor of retinoblastoma eyes.
CONCLUSIONS: AH liquid biopsy is a minimally invasive, in vivo alternative to tissue analysis for the simultaneous identification of RB1 variants and SCNAs in RB eyes. PMID: 32799607 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 19, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Two novel PDE6C gene mutations in Chinese family with achromatopsia.
CONCLUSIONS: We report novel compound heterozygous PDE6C mutations in causing ACHM and further confirm the clinical diagnosis. Our study extends the genotypic spectrums for PDE6C-ACHM and better illustrates its genotype-phenotype correlations, which would help the ACHM patients with better genetic diagnosis, prognosis, and gene treatment. PMID: 32787476 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 14, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Retinoschisis associated with Kearns-Sayre syndrome.
CONCLUSIONS: These findings suggest retinoschisis may be a rare manifestation of KSS. A trial of a carbonic anhydrase inhibitor was frustrated by coexisting corneal edema associated with the condition. PMID: 32787478 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 14, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Macula-predominant retinopathy associated with biallelic variants in RDH12.
CONCLUSIONS: Disease-causing variants in RDH12 are typically associated with early-onset severe retinal dystrophy with significant macular involvement. Hypomorphic alleles of this gene cause relatively mild retinopathy with predominant macular involvement. This phenotype demonstrates the vulnerability of the macular photoreceptors to certain perturbations of RDH12. PMID: 32790509 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 14, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Exome sequencing identification of susceptibility genes in Chinese patients with keratoconus.
CONCLUSIONS: Our study suggested that a total of six SNVs in six genes and two InDels in two genes might be considered as candidate variants in Chinese patients with KC. PMID: 32744102 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 4, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Anterior segment optical coherence tomography, in vivo confocal microscopy, histopathologic, and immunohistochemical findings in a patient with multiple endocrine neoplasia type 2b.
CONCLUSIONS: We present clinical, AS-OCT, IVCM, histopathological, and immunohistochemical findings in a patient with MEN 2b. To our knowledge, this is the first case of a conjunctival schwannoma diagnosed histopathologically in MEN 2b. PMID: 32718216 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 30, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Outer retinal tubulations in maternally inherited diabetes & deafness - associated macular dystrophy: case report.
CONCLUSIONS: ORTs are a non-specific finding that can be found in MIDD and other retinal dystrophies. Taking under consideration the rarity and the difficulty in diagnosing this entity, our data could serve as an addition to the existing knowledge in terms of clinical and imaging manifestations of MIDD. PMID: 32720551 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 30, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia.
CONCLUSIONS: Our study shows a family with PM and RP due to a mutation in the MFRP gene. The relationship has previously been proven, but this specific mutation has never been described. These gene mutations show wide phenotypic variability, being evident in the presence of foveoschisis, retinal and choroidal folds, and FH, other than PM and RP. PMID: 32703043 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 28, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A novel TIMP3 mutation associated with a retinitis pigmentosa-like phenotype.
CONCLUSIONS: It is important to consider mutations in TIMP3 in atypical cases of Retinitis Pigmentosa particularly in the absence of known variants. PMID: 32715858 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 28, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Heterozygous CRX R90W mutation-associated adult-onset macular dystrophy with phenotype analogous to benign concentric annular macular dystrophy.
Conclusions We believe this to be the first case of adult onset macular dystrophy associated with heterozygous CRX R90 W mutation. PMID: 32689858 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 23, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency.
CONCLUSIONS: Establishing an ocular genetic diagnosis may be challenging with the co-existence of a rare systemic genetic disease with previously unknown eye involvement. Extensive phenotyping and genotyping of available family members showed that the proband and her mother shared a CRB1-related retinopathy at different stages while the brother did not. PMID: 32689861 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 23, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Hickam's Dictum: Pseudoxanthoma elasticum and Usher syndrome in a single patient.
CONCLUSIONS: PXE and Usher syndrome are rare systemic disorders that cause distinctive retinal abnormalities. This report highlights the importance of genetic testing in diagnosing uncommon hereditary retinal disorders and outlines the progression of disease over 6 years. PMID: 32664777 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 17, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Optical coherence tomography angiography cyclic remodeling of CNV in patients affected by Best macular dystrophy.
CONCLUSION: OCT-A is an important tool for the diagnosis of both naïve and fibrotic CNV in BMD patients; it is a non-invasive method for the qualitative and quantitative analysis of neovascular lesions during follow-up. Our results have shown a cyclic remodeling of treated CNV in BMD patients using both PDT and IV. PMID: 32643503 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 11, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Pseudoxanthoma elasticum and retinitis pigmentosa: dual diagnosis of recessive conditions with ophthalmological consequences.
Conclusions This report highlights an interesting case of two unrelated autosomal recessive diseases presenting in one person, both of which have the potential to manifest with ophthalmological symptoms and signs. Though it is likely that only one condition has caused the ophthalmological findings in this case, it raises the question of how we can distinguish the causative disease when two conditions are present that have a shared target organ. PMID: 32646269 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 11, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Clinical and genetic study on two Chinese families with Wagner vitreoretinopathy.
CONCLUSIONS: Clinical manifestations are highly variable among WVR patients. Retinal detachment is common in WVR and the most vision-threatening complication. Next generation sequencing is a useful tool in precise diagnosis of this spectrum of diseases with highly heterogeneous or overlapped phenotypes. PMID: 32623950 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 7, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Association of Saitohin gene rs62063857 polymorphism with dry type age-related macular degeneration.
CONCLUSION: Our results showed that although STH Q7 R polymorphism was not associated with wet AMD susceptibility it was significantly associated with geographic atrophy. PMID: 32615840 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 4, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

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