Efficacy of topical brinzolamide in children with retinal dystrophies.
Conclusions: Mild anatomic improvement of macular cysts was seen in pediatric patients using brinzolamide. Visual acuity improvement occurred even without significant reduction in macular cysts. Further studies are needed to determine whether the beneficial effects of carbonic anhydrase inhibitors are sustained in children with inherited retinal degenerations. PMID: 31496370 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - September 10, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Severe retinitis pigmentosa with posterior staphyloma in a family with c.886C > A p.(Lys296Glu) RHO mutation.
Conclusion: A PPS development was observed in initially non-myopic patients of a family with unusually severe dominant RP. The PPS concerned only the area with relatively preserved outer retinal layers (outer nuclear layer and ellipsoid zone). How the outer retina could guide choroid and scleral remodelling remains unclear. PMID: 31438752 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 25, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Choroidal neovascularization in an adolescent with RDH12-associated retinal degeneration.
Conclusions: Choroidal neovascularization may be a unique occurrence in RDH12-associated retinal dystrophy. Successful treatment of the neovascularization could be accomplished with intravitreal antivasogenic therapy. PMID: 31424981 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 21, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Association study of high-frequency variants of MTHFR gene with retinal vein occlusion in a Spanish population.
Authors: Fernández-Vega B, Álvarez L, García M, Artime E, González Fernández A, Fernández-Vega C, Nicieza J, Vega JA, González-Iglesias H Abstract Background: To study the association of the most common methylenetetrahydrofolate reductase (MTHFR) genetic polymorphisms C677T and A1298C with retinal vein occlusion (RVO) in a Spanish population. Methods: Case-control study involving 359 subjects, 183 unrelated native Spanish patients diagnosed with RVO, distributed in central or branch RVO, and 176 healthy controls. Two SNPs located in the gene MTHFR, C677T (rs1801133) ...
Source: Ophthalmic Genetics - August 18, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Clinical and genetic characteristics of nevus of Ota with choroidal melanoma in Chinese.
Conclusions: The results indicate that patients with nevus of Ota should undergo regular ophthalmological observation and be aware of the potential for malignancy. PMID: 31407624 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 15, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Non-paraneoplastic related retinopathy: clinical challenges and review.
Authors: Takiuti JT, Takahashi VKL, Xu CL, Jauregui R, Tsang SH Abstract Autoimmune retinopathy (AIR) is a rare inflammatory condition characterized by progressive visual loss, abnormalities in visual fields and electroretinographic exams, along with presence of circulating anti-retinal antibodies. There are two main forms of AIR: paraneoplastic AIR (pAIR) and presumed non-paraneoplastic AIR (npAIR). NpAIR is considered a diagnosis of exclusion, since it is typically made after other causes of retinopathy have been investigated and the absence of malignancy is confirmed. Work-up of a npAIR case is challenging since...
Source: Ophthalmic Genetics - August 11, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Targeted panel sequencing identifies a novel NR2F1 mutations in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome.
Conclusions: We highlighted the value of genetic testing in definite diagnosis of BBSOAS in patients with unexplained optic atrophy. PMID: 31393201 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 10, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Angiotensin-converting enzyme gene polymorphism in Beh çet's disease in Iranian population.
Angiotensin-converting enzyme gene polymorphism in Behçet's disease in Iranian population. Ophthalmic Genet. 2019 Aug 06;:1-2 Authors: Rouhi N, Nazm SA, Bonyadi M, Jabbarpoor Bonyadi MH, Soheilian M PMID: 31386588 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 8, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Estrogen receptor gene polymorphisms and their influence on clinical status of Caucasian patients with primary open angle glaucoma.
Conclusions: The studied polymorphic variants of ESR1 and ESR2 genes may have an influence on the clinical phenotype of patients with POAG. PMID: 31322012 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 21, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Granular type I corneal dystrophy in a large consanguineous Tunisian family with homozygous p.R124S mutation in the TGFBI gene.
Conclusions: Our study describes for the first time phenotype-genotype correlation in a large Tunisian family with GCDI and illustrates for the first time clinical and histopathological presentation of homozygous p.[R124S] mutation. These results help to understand pathophysiology of the disease. PMID: 31322463 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 21, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Paradoxical response to carbonic anhydrase inhibitors in patients with intraretinal cystoid spaces.
Conclusions: Patients with IRCS may exhibit a paradoxical response after discontinuation of carbonic anhydrase inhibitors. Although the pathophysiology of these phenomena is unclear, stopping treatment may be an option in patients who cease to improve or get worse on treatment. PMID: 31266384 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 5, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Association of polymorphism rs11656696 in GAS7 with primary open-Angle Glaucoma in a Chinese Population.
Conclusion: This case-control association study showed that polymorphism rs11656696 in GAS7 is related to POAG and might be a protective factor against POAG. PMID: 31269845 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 5, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Optic neuropathy in classical methylmalonic acidemia.
This study sought to identify overt and subclinical optic neuropathy in a cohort with classical MMA. Methods and Materials: Neuroophthalmic examinations were performed on 21 patients identified with classical MMA, older than 10years. Diagnosis of optic neuropathy was determined by a combination of visual acuity, optic nerve appearance and electrodiagnostic tests. Tabulated data were analyzed for association of variables using SAS software. Significance was set at p
Source: Ophthalmic Genetics - July 5, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Participant perspectives on a phase I/II ocular gene therapy trial (NCT02077361).
Conclusions: Our study enabled clinical trial participants to describe their experiences in a clinical trial for a novel gene therapy. We provide practical recommendations to future clinical trial staff on communications and conduct participant perspectives. Communications strategies should address changing information needs over the course of the trial, express appreciation for participation and enable feedback from participants and their supporting family members, friends, or caregivers. PMID: 31269854 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 5, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Coquille d'oeuf in young patients affected with Pseudoxantoma elasticum.
Conclusions: PXE-related retinopathy findings: peau d'orange/coquille d'oeuf, angioid streaks, comet lesions and drusen of the optic disc were present early in PXE patients. The early detection of coquille d'oeuf/peau d'orange revealed a preferable area into midperiphery where Bruch's membrane will be more likely to be affected. PMID: 31269855 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 5, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Spinocerebellar ataxia type 7 with RP1L1-negative occult macular dystrophy as retinal manifestation.
Conclusions: SCA7 can present with a very mild form of retinal degeneration similar to the classic phenotype of RP1L1-negative OMD in case of the lower number of CAG repeats. PMID: 31269856 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 5, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene.
Conclusions: Although PPRD progressed slowly, it was an important clue in the diagnosis of the life-threatening condition of Danon disease. PMID: 31264915 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 4, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Homozygous and heterozygous retinal phenotypes in families harbouring IMPG2 mutations.
Conclusions: Childhood-onset recessive rod-cone dystrophy with early macular involvement should prompt examination of the parents for macular focal retinal pigment epithelium thickening on OCT. If present the possibility of biallelic IMPG2 mutations in the proband should be considered. Young affected relatives of the proband can show multimodal imaging abnormalities before they are overtly symptomatic. PMID: 31264916 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 4, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A genome-wide association study implicates that the TTC39C gene is associated with diabetic maculopathy with decreased visual acuity.
Conclusions: We suggest that the TTC39C gene is associated with diabetic maculopathy with decreased visual acuity. This needs to be confirmed by further replication studies and functional studies. PMID: 31264924 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 4, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the MFRP gene: a familial study.
Conclusion: Our study confirmed the association of PM with RP as an autosomal recessive syndrome. Although this has previously been described, it seems that there are some constant (i.e., PM and RP) and some variable features (i.e., optic nerve drusen and foveoschisis). The MFRP mutation has also been detected in other studies associating PM with RP. Analysis of a larger series of cases at the clinical and genetic levels would certainly help us to better understand the phenotype-genotype correlations of this syndrome. PMID: 31264930 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - July 4, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Incomplete penetrance of CRX gene for autosomal dominant form of cone-rod dystrophy.
Conclusion: The CRX gene has been previously linked to the autosomal dominant form of cone-rod dystrophy. We report incomplete penetrance of CRX gene for autosomal dominant form of the disease. Incomplete penetrance of the mutations may be partly caused by the influence of other genes in the complex genetic network underlying retinal regulation. PMID: 31215831 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 21, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Does CETP rs5882, rs708272, SIRT1 rs12778366, FGFR2 rs2981582, STAT3 rs744166, VEGFA rs833068, IL6 rs1800795 polymorphisms play a role in optic neuritis development?
Conclusions: We revealed that the genotypes of CETPrs708272 G/A, IL6rs1800795 G/G, and each allele C at VEGFArs833068 were associated with ON. CETPrs708272 G/G genotype was associated with decreased by 62% odds of ON with MS development under the recessive (OR = 0.379;95%CI:0.155-0.929; p = .034) model. PMID: 31199170 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 15, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Carbonic anhydrase inhibitors in patients with X-linked retinoschisis: effects on macular morphology and function.
Authors: Testa F, Di Iorio V, Gallo B, Marchese M, Nesti A, De Rosa G, Melillo P, Simonelli F Abstract Background: Currently there is no medical treatment for X-linked retinoschisis (XLRS). In many retinal dystrophies, carbonic anhydrase inhibitors (CAIs) are effectively used to reduce cystoid macular edema. Prospective studies investigating the effect of CAIs in patients with XLRS are needed for the evaluation of their efficacy in this disease. The purpose of our work is to investigate the effects on macular morphology and function of oral CAIs used for the treatment of foveal lesions in patients with XLRS. Method...
Source: Ophthalmic Genetics - June 4, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Primary congenital glaucoma in Vietnam: analysis and identification of novel CYP1B1 variants.
Authors: Tran HT, Tran HT, Luong LH, Nguyen TS, Nguyen HQ, Vu TT, Ta TD, Dao TMA, Bui TH, Ta TV, Tran VK PMID: 31149863 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 4, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Retinoblastoma awareness among first contact physicians in Jordan.
Conclusion: Most medical students and pediatricians involved in this study lack the sufficient knowledge to detect and timely-refer patients with signs of RB. It is necessary to develop continuous medical education programs for first-contact physicians. PMID: 31134839 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 30, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Association of genetic variants at MYP10 and MYP15 with high myopia in a Han Chinese population.
Conclusions: Our results demonstrated that some heritable variants in the TNKS gene are associated with HM in the Han population. The possible functions of TNKS in the development and pathogenesis of hereditary high myopia still require further researches to identify. PMID: 31134845 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 30, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Detailed retinal phenotype of Boucher-Neuh äuser syndrome associated with mutations in PNPLA6 mimicking choroideremia.
Detailed retinal phenotype of Boucher-Neuhäuser syndrome associated with mutations in PNPLA6 mimicking choroideremia. Ophthalmic Genet. 2019 May 28;:1-9 Authors: O'Neil E, Serrano L, Scoles D, Cunningham KE, Han G, Chiang J, Bennett J, Aleman TS Abstract Purpose: To confirm the pathogenic role of a novel mutation in PNPLA6 and detail the phenotype of a patient presenting with choroideremia-like chorioretinal degeneration. Methods: A 40-year-old man with presumed choroideremia underwent a complete ophthalmic examination, full-field electroretinography (ERG), kinetic fields and two-color automated s...
Source: Ophthalmic Genetics - May 30, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Optical Coherence Tomography Angiography (OCT-A) in young choroideremia (CHM) patients.
Authors: Murro V, Mucciolo DP, Giorgio D, Sodi A, Passerini I, Virgili G, Rizzo S Abstract Purpose: To study OCT-A findings in young patients affected with CHM Methods: Young patients affected with CHM and age-matched control subjects were consecutively enrolled at the Regional Reference Center for Hereditary Retinal Degenerations at the Eye Clinic in Florence. All patients underwent a complete ophthalmic examination including best-corrected visual acuity (BCVA), fundus autofluorescence (FA), optical coherence tomography (SS-OCT) and 3 × 3 mm swept-source OCT angiography (SS-OCTA). Superficial capillary plexu...
Source: Ophthalmic Genetics - May 30, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Correction.
Authors: PMID: 31063014 [PubMed - in process] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 9, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Rod-cone dystrophy associated with the Gly167Asp variant in PRPH2.
Authors: Ba-Abbad R, Robson AG, MacPhee B, Webster AR, Michaelides M PMID: 31063015 [PubMed - in process] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 9, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindness.
Authors: Tourville A, Michiels C, Condroyer C, Meunier A, Cordonnier M, Sahel JA, Audo I, Abramowicz M, Zeitz C PMID: 31063016 [PubMed - in process] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 9, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Phenotypic high myopia in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene.
CONCLUSION: A complete family history allowed determination of the inheritance pattern providing genetic counseling for patients and their families. The geno-phenotypic attributes of this heterozygosity suggest a correlation between RP and PM. This novel mutation would expand the mutation spectrum of RP2 and RPGR, and help to study molecular pathogenesis of RP. PMID: 31033374 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 30, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A novel 5 bp homozygous deletion mutation in ASPH gene associates with Traboulsi syndrome.
Authors: Chandran P, Chermakani P, Venkataraman P, Thilagar SP, Raman GV, Sundaresan P PMID: 31012784 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 25, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa.
CONCLUSION: This study highlights the importance of including this rarely-mutated gene in the molecular diagnostic set-ups for IRDs, and further delineates the phenotypic spectrum elicited by mutations in IDH3A. PMID: 31012789 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 25, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

MFSD8 gene mutations; evidence for phenotypic heterogeneity.
CONCLUSIONS: Here and for the first time, we reported on two previously variant late-infantile neuronal ceroid lipofuscinoses-associated variants in MFSD8 but in association with a form of cone-rod dystrophy known as non-syndromic macular dystrophy with central cone involvement. Our results support this concept that variant late-infantile neuronal ceroid lipofuscinoses and non-syndromic macular dystrophy with central cone involvement are not different disease entities, but rather allelic diseases and phenotypic variants of the same mutation. Consideration of the milder MFSD8 phenotypes is important against the potentially ...
Source: Ophthalmic Genetics - April 23, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Horizontal gaze palsy and progressive scoliosis with two novel ROBO3 gene mutations in two Jordanian families.
CONCLUSION: Two novel mutations in the ROBO3 gene were identified in two Jordanian families with six affected individuals. To our knowledge, this is the first molecular study of HGPPS in Jordan. PMID: 30985235 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 16, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A novel PAX6 mutation causes congenital aniridia with or without retinal detachment.
CONCLUSIONS: To the best of our knowledge, it is the first report on the genetics of aniridia in Iran. Segregation analysis, bioinformatics prediction and confirmation of NMD, all support the proposition that the novel observed PAX6 mutation is the cause of aniridia in the pedigree. Retinal detachment in some of the affected members, which is a rare reported phenotypic feature of aniridia patients, may be associated with this mutation. PMID: 30985247 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 16, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Increased microvascular disease in X-linked and autosomal recessive Alport syndrome: a case control cross sectional observational study.
This study examined the retinal microvasculature in Alport syndrome. MATERIALS AND METHODS: Retinal images from 28 males and 28 females with X-linked Alport syndrome, and 13 individuals with autosomal recessive disease were reviewed retrospectively for microvascular/ hypertensive retinopathy (Wong and Mitchell classification), and small vessel calibre (using a computerised semiautomated method and revised Knudtson formula). Data were compared with age and gender-matched individuals with normal blood pressure and renal function. RESULTS: Microvascular/hypertensive retinopathy was more common in males and female...
Source: Ophthalmic Genetics - April 16, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A case of ocular cystinosis associated with two potentially severe CTNS mutations.
CONCLUSION: We present a case of ocular cystinosis caused by two potentially severe CTNS gene mutations. The lack of renal involvement may be due to localised (ocular) aberrant CTNS RNA splicing. PMID: 30957593 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 9, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Multimodal imaging of benign yellow dot maculopathy.
CONCLUSIONS: Our work confirmed the benign nature of this peculiar macular phenotype showing a normal macular function and a stable clinical picture during a long-term follow-up. Multimodal imaging allows a detailed detection and monitoring of Benign Yellow Dot Maculopathy. PMID: 30942106 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 5, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Papilledema from gain-of-function mutations in the STAT3 gene.
CONCLUSIONS: Papilledema can occur as a manifestation of STAT3 gain-of-function mutation, sometimes accompanied by prominent vascular sheathing and cystoid macular edema. The mechanism may be chronic meningeal infiltration by white blood cells, impairing cerebrospinal fluid absorption. PMID: 30942636 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 5, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism.
CONCLUSIONS: By compiling all the published cases we discuss the variable penetrance among females due to different types of mutation and to X-inactivation. PMID: 30942644 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 5, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Dominant ARL3-related retinitis pigmentosa.
CONCLUSION: Our study confirms that the ARL3 missense variant p.(Tyr90Cys) causes retinitis pigmentosa. In 2016, Strom et al. reported the exact same variant in a mother and two children with RP, labelled ?RP83 in the OMIM database. Now the questionmark can be removed, and ARL3 should be added to the list of genes that may cause non-syndromic dominant retinitis pigmentosa. PMID: 30932721 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 3, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Phenotypic variability of SLC7A14 mutations in patients with inherited retinal dystrophy.
CONCLUSIONS: We applied TES to the molecular diagnosis of patients with IRD and for the first time identified SLC7A14 mutations in two unrelated families with RP and LCA separately. Our findings uniquely add the knowledge of the phenotypic variability of SLC7A14 mutations. PMID: 30924391 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - March 30, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy.
CONCLUSIONS: These data suggest that the majority of LCA/EORD in Costa Rica is due to four founder mutations in RPE65 which have been maintained in this genetically isolated population. This finding is of great clinical significance due to the availability of gene therapy recently approved in the US and European Union for patients with biallelic RPE65 defects. PMID: 30870047 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - March 16, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Protective association of A-T-T haplotype of DMT1 gene against risk of human age-related nuclear cataract.
CONCLUSIONS: The results highlighted a protective association of A-T-T haplotype against the risk of ARC. PMID: 30870050 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - March 16, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Clinical features and possible founder mutation of the 8bp duplication mutation in the SLC4A11 gene causing corneal dystrophy and perceptive deafness in three South American families.
CONCLUSIONS: The five CDPD patients were homozygous for the same mutation in the SLC4A11 gene. Haplotype analysis of all the affected, including the case reported from Argentina was in accordance with a founder mutation. PMID: 30856043 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - March 13, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Recessive pediatric-onset cone-rod dysfunction or dominant maculopathy in a consanguineous family harboring the peripherin mutation p.Arg220Gln.
CONCLUSIONS: The experience with this family highlights clinical features suggestive for biallelic peripherin mutations, documents cone-rod dysfunction as associated with homozygosity for the p.Arg220Gln peripherin mutation, and is an example of how examination of family members can help to guide genetic testing. PMID: 30822235 [PubMed - in process] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - March 4, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Bilateral retinoblastoma due to a germline mutation of RB1 in a child with down syndrome.
Authors: Le Grignou M, Bleriot A, Nizon M, Pacquement H, Houdayer C, Thebaud E, Le Meur G, Isidor B PMID: 30822236 [PubMed - in process] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - March 4, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Novel ocular findings in oculodentodigital dysplasia (ODDD): a case report and literature review.
CONCLUSION: Our research expanded not only the mutation spectrum, but also the clinical characteristics of ODDD. To the best of our knowledge, this is the first report on anatomical and functional chorioretinal changes in ODDD patients. These novel ocular features highlight the importance of fundus morphological and functional evaluation in ODDD. ABBREVIATIONS: ODDD: oculodentodigital dysplasia; OCT: optical coherence tomography; ERG: electroretinogram; TACT: teller acuity card test; UBM: ultrasound biomicroscopy; MW: molecular weights; AL: axial length; Cx43: connexin 43; RPE: retinal pigment epithelium; RGCs: retinal...
Source: Ophthalmic Genetics - February 17, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research