OOIR: Observatory of International Research

Papers

(The TQCC of Ophthalmic Genetics is 3. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2020-05-01 to 2024-05-01.)

Article	Citations
Inherited retinal diseases are the most common cause of blindness in the working-age population in Australia	77
KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy	24
Simultaneous identification of clinically relevant RB1 mutations and copy number alterations in aqueous humor of retinoblastoma eyes	21
Atypical and ultra-rare Usher syndrome: a review	20
Stargardt disease and progress in therapeutic strategies	19
Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases	17
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome	15
A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations	14
Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism	13
Macula-predominant retinopathy associated with biallelic variants in RDH12	12
Current concepts on diffuse choroidal hemangioma in Sturge Weber syndrome	12
Content generation for patient-reported outcome measures for retinal degeneration therapeutic trials	11
Ocular manifestations in classic homocystinuria	11
Optical coherence tomography in the evaluation of retinitis pigmentosa	10
Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in theC1QTNF5gene	10
CERKL mutation causing retinitis pigmentosa(RP) in Indian population – a genotype and phenotype correlation study	9
Optical coherence tomography-angiographic vascular densities in Familial Mediterranean Fever (FMF) Patients with M694V Mutations	9
Genetic disease is a common cause of bilateral childhood cataract in Denmark	9
Clinical spectrum, genetic associations and management outcomes of Coats-like exudative retinal vasculopathy in autosomal recessive retinitis pigmentosa	9
The first gene therapy for RPE65 biallelic dystrophy with voretigene neparvovec-rzyl in Brazil	8
Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene	8
Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy	8
Familial exudative vitreoretinopathy with TGFBR2 mutation without signs of Loeys-Dietz syndrome	8
Ocular manifestations in kabuki syndrome: A report of 10 cases and literature review	8
Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome	8

Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene	7
Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1	7
Living with Stargardt disease: insights from patients and their parents	7
The relationship of retinopathy of prematurity with brain-derivated neurotrophic factor, vascular endotelial growth factor-A, endothelial PAD domain protein 1 and nitric oxide synthase 3 gene polymorp	7
Programmed screening for retinoblastoma enhances early diagnosis and improves management outcome for high-risk children	7
Association of relative leukocyte telomere length and genetic variants in telomere-related genes (TERT, TERT-CLPTM1, TRF1, TNKS2, TRF2) with atrophic age-related macular degeneration	7
Associations between OPA1, MFN1, and MFN2 polymorphisms and primary open angle glaucoma in Polish participants of European ancestry	7
Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model	7
The presence and progression of choroidal neurofibromas in a predominantly pediatric population with neurofibromatosis type-1	7
Retinoschisis associated with Kearns-Sayre syndrome	7
Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China	7
Childhood-onset retinal dystrophies reduces life-time income by one third - an individual based socio-economic analysis	6
Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism	6
Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy	6
A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia	6
The haplotype of the CDKN2B-AS1 gene is associated with primary open-angle glaucoma and pseudoexfoliation glaucoma in the Caucasian population of Central Russia	6
A novel variant in TGFBI causes keratoconus in a two-generation Chinese family	6
Exome sequencing identification of susceptibility genes in Chinese patients with keratoconus	6
Experiences of genetic testing among individuals with retinitis pigmentosa	6
A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia	6
Ophthalmic findings and a novel CTC1 gene mutation in coats plus syndrome: a case report	6
Heterozygous CRX R90W mutation-associated adult-onset macular dystrophy with phenotype analogous to benign concentric annular macular dystrophy	6
Oliver McFarlane syndrome: two new cases and a review of the literature	6
RDH12 retinopathy: clinical features, biology, genetics and future directions	5
A de novo mutation inPITX2underlies a unique form of Axenfeld-Rieger syndrome with corneal neovascularization and extensive proliferative vitreoretinopathy	5
Unrecognized ROPER in a child with a novel pathogenic variant in ZNF408 gene	5
A novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndrome	5
Best Vitelliform Macular Dystrophy (BVMD) is a phenocopy of North Carolina Macular Dystrophy (NCMD/MCDR1)	5
A homozygous POC1B variant causes recessive cone-rod dystrophy	5
Novel homozygous mutation of plasminogen in ligneous conjunctivitis: a case report and literature review	5
The evolving role of genetics in ophthalmology	5
High-resolution photoreceptor imaging analysis of patients with autosomal dominant retinitis pigmentosa (adRP) caused by HK1 mutation	5
A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome	5
Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH	5
A variant in the RP1L1 gene in a family with occult macular dystrophy in a predicted intrinsically disordered region	5
MYCN amplification levels in primary retinoblastoma tumors analyzed by Multiple Ligation-dependent Probe Amplification	5
Novel mutation in SLC4A7 gene causing autosomal recessive progressive rod-cone dystrophy	5
Diagnostic yield of targeted next-generation sequencing in infantile nystagmus syndrome	5
Bioinformatics analysis of GNAQ, GNA11, BAP1, SF3B1,SRSF2, EIF1AX, PLCB4, and CYSLTR2 genes and their role in the pathogenesis of Uveal Melanoma	5
Novel heterozygous variants in PXDN cause different anterior segment dysgenesis phenotypes in monozygotic twins	5
Oliver McFarlane syndrome and choroidal neovascularisation: a case report	5
Variants at codon 838 in the GUCY2D gene result in different phenotypes of cone rod dystrophy	5
The role of motor proteins in photoreceptor protein transport and visual function	5
Inherited retinal degeneration current genetics practices – a needs assessment	5
Secondary enucleated retinoblastoma with MYCN amplification	5
Association of EFEMP1 with juvenile-onset open angle glaucoma in a patient with concomitant COL11A1-related Stickler syndrome	5
Living with type I Usher syndrome: insights from patients and their parents	5
De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia	4
Clinical and genetic study on two Chinese families with Wagner vitreoretinopathy	4
Treatment and longitudinal follow-up of CNV associated with pattern dystrophy with novel PRPH2 variant	4

TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases	4
Novel compound heterozygous pathogenicBBS5variants in Filipino siblings with Bardet-Biedl syndrome (BBS)	4
Mitochondrial DNA A3243G variant-associated retinopathy: a meta-analysis of the clinical course of visual acuity and correlation with systemic manifestations	4
Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings	4
KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3	4
Multimodal imaging of an RPGR carrier female	4
Retinoblastoma and uveal melanoma in Jordan: incidence, demographics, and survival (2011-2020)	4
Mosaic cat eye syndrome in a child with unilateral iris coloboma	4
A novel variant in DOCK6 gene associated with Adams–Oliver syndrome type 2	4
Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development	4
Cataract in You-Hoover-Fong syndrome: TELO2 deficiency	4
Novel FZD4 and LRP5 mutations in a small cohort of patients with familial exudative vitreoretinopathy (FEVR)	4
Peripheral pigmented lesions in ABCA4-associated retinopathy	4
Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity	4
Clinical albinism score, presence of nystagmus and optic nerves defects are correlated with visual outcome in patients with oculocutaneous albinism	4
Identification of a novel nonsense variant in FYCO1 gene associated with infantile cataract and cortical atrophy	4
Ocular manifestations and surgical interventions in pediatric patients with Koolen-de-Vries syndrome	4
Prevalence of RPGR-mutated X-linked retinitis pigmentosa among males	4
Clinical characteristics of high myopia in female carriers of pathogenic RPGR mutations: a case series and review of the literature	4
Ocular findings of albinism in DYRK1A-related intellectual disability syndrome	4
Disease progression of retinitis pigmentosa caused by PRPF31 variants in a Nordic population: a retrospective study with up to 36 years follow-up	4
Complete congenital stationary night blindness associated with a novel NYX variant (p.Asn216Lys) in middle-aged and older adult patients	4
Associations between IL1RAP rs4624606, IL1RL1 rs1041973, IL-6 rs1800795, and HTRA1 rs11200638 gene polymorphisms and development of optic neuritis with or without multiple sclerosis	4
A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family	4
CRISPR Cas9 based genome editing in inherited retinal dystrophies	4
Cell Free DNA (cfDNA) in the Blood of Retinoblastoma Patients The Robert M. Ellsworth Lecture	4
A new heterozygous mutation in the stop codon of CRYAB (p.X176Y) is liable for congenital posterior pole cataract in a Chinese family.	3
Intermittent exotropia – a potential confounding factor for full-field electroretinography	3
Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing	3
Association of NOD1, NOD2, PYDC1 and PYDC2 genes with Behcet’s disease susceptibility and clinical manifestations	3
Senior-Løken syndrome and intracranial hypertension	3
Long-term follow-up of adult patient with neurofibromatosis type 1 with retinal astrocytic hamartoma using spectral-domain optical coherence tomography: a review of the literature and a report of a ca	3
Management of a case of Enhanced S-cone syndrome with massive foveoschisis treated with pars plana vitrectomy with silicone oil tamponade	3
Novel MFSD8 mutation causing non-syndromic asymmetric adult-onset macular dystrophy	3
Natural history of Usher type 2 with the c.2299delG mutation of USH2A in a large cohort	3
Macular atrophy in JAG1-related Alagille syndrome: a case series	3
Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome	3
Isolated juvenile macular dystrophy without posterior column ataxia associated with FLVCR1 mutation	3
Corneal curvature-associated MTOR variant differentiates mild myopia from high myopia in Han Chinese population	3
Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts	3
NYX-related Congenital Stationary Night Blindness in Two Siblings due to Probable Maternal Germline Mosaicism	3
Multimodal imaging of retinitis pigmentosa associated with Mainzer-Saldino syndrome	3
MERTK retinopathy: biomarkers assessing vision loss	3
Investigating the role of BEST1 and PRPH2 variants in the molecular aetiology of adult-onset vitelliform macular dystrophies	3
A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short stature	3
A novel c.980C>G variant in OAT results in identifiable gyrate atrophy phenotype associated with retinal detachment in a young female	3
Readability, Content, and Accountability Assessment of Online Health Information for Retinitis Pigmentosa & Retinitis Pigmentosa Treatment Options	3
Portuguese translation and linguistic validation of the Michigan Retinal Degeneration Questionnaire and the Michigan Vision-Related Anxiety Questionnaire in a cohort with inherited retinal degeneratio	3
Macular crystalline inclusions in Sjögren-Larsson syndrome are dynamic structures that undergo remodeling	3
The first reported case of a deletion of the entire RPGR gene in a family with X-linked retinitis pigmentosa	3
IL1A and IL1B gene polymorphisms and keratoconus susceptibility: evidence from an updated meta-analysis	3
A novel CRYGC E128* mutation underlying an autosomal dominant nuclear cataract in a south Indian kindred	3
Visual and ocular findings in a family with X-linked cone dysfunction and protanopia	3
“Association of APOE gene polymorphisms with primary open angle glaucoma in Brazilian patients”	3
A Novel Pathogenic NOD2 Variant in a Mother and Daughter with Blau Syndrome	3
Multimodal imaging analysis of macular dystrophy in patient with maternally inherited diabetes and deafness (MIDD) with m.3243A>G mutation	3
Extensive rod and cone photoreceptor-cell degeneration in rat models of giant axonal neuropathy: implications for gene therapy of human disease	3
Association of combined complement factor H Y402H and ARMS2/LOC387715 A69S polymorphisms with age-related macular degeneration: an updated meta-analysis	3
Atypical presentation of Cat Eye Syndrome in an infant with Peters anomaly and microphthalmia with cyst	3
KCTD1 and Scalp-Ear-Nipple (‘Finlay–Marks’) syndrome may be associated with myopia and Thin basement membrane nephropathy through an effect on the collagen IV α3 and α4 chains	3
An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome	3