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 2020-10-01 to 2024-10-01.)

Article	Citations
Inherited retinal diseases are the most common cause of blindness in the working-age population in Australia	94
Stargardt disease and progress in therapeutic strategies	26
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome	23
Current concepts on diffuse choroidal hemangioma in Sturge Weber syndrome	14
Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism	12
Genetic disease is a common cause of bilateral childhood cataract in Denmark	11
Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome	11
Clinical spectrum, genetic associations and management outcomes of Coats-like exudative retinal vasculopathy in autosomal recessive retinitis pigmentosa	11
Familial exudative vitreoretinopathy with TGFBR2 mutation without signs of Loeys-Dietz syndrome	11
Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in theC1QTNF5gene	10
Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene	9
A novel variant in TGFBI causes keratoconus in a two-generation Chinese family	9
Ocular manifestations in kabuki syndrome: A report of 10 cases and literature review	9
Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1	8
Oliver McFarlane syndrome: two new cases and a review of the literature	8
The first gene therapy for RPE65 biallelic dystrophy with voretigene neparvovec-rzyl in Brazil	8
Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene	8
Living with Stargardt disease: insights from patients and their parents	8
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	8
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	8
Association of EFEMP1 with juvenile-onset open angle glaucoma in a patient with concomitant COL11A1-related Stickler syndrome	8
Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model	8
The presence and progression of choroidal neurofibromas in a predominantly pediatric population with neurofibromatosis type-1	7
Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH	7
Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy	7

Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism	7
MYCN amplification levels in primary retinoblastoma tumors analyzed by Multiple Ligation-dependent Probe Amplification	7
Associations between OPA1, MFN1, and MFN2 polymorphisms and primary open angle glaucoma in Polish participants of European ancestry	7
Childhood-onset retinal dystrophies reduces life-time income by one third - an individual based socio-economic analysis	7
A novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndrome	7
Bioinformatics analysis of GNAQ, GNA11, BAP1, SF3B1,SRSF2, EIF1AX, PLCB4, and CYSLTR2 genes and their role in the pathogenesis of Uveal Melanoma	7
Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China	7
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	6
Diagnostic yield of targeted next-generation sequencing in infantile nystagmus syndrome	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
Experiences of genetic testing among individuals with retinitis pigmentosa	6
Prevalence of RPGR-mutated X-linked retinitis pigmentosa among males	6
Novel homozygous mutation of plasminogen in ligneous conjunctivitis: a case report and literature review	5
Multimodal imaging of an RPGR carrier female	5
Retinoblastoma and uveal melanoma in Jordan: incidence, demographics, and survival (2011-2020)	5
IL1A and IL1B gene polymorphisms and keratoconus susceptibility: evidence from an updated meta-analysis	5
Ophthalmic findings and a novel CTC1 gene mutation in coats plus syndrome: a case report	5
A homozygous POC1B variant causes recessive cone-rod dystrophy	5
CRISPR Cas9 based genome editing in inherited retinal dystrophies	5
MFRP variant results in nanophthalmos, retinitis pigmentosa, variability in foveal avascular zone	5
Clinical albinism score, presence of nystagmus and optic nerves defects are correlated with visual outcome in patients with oculocutaneous albinism	5
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	5
Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development	5
Self-reported visual function and psychosocial impact of visual loss in EYS-associated retinal degeneration in a Portuguese population	5
Best Vitelliform Macular Dystrophy (BVMD) is a phenocopy of North Carolina Macular Dystrophy (NCMD/MCDR1)	5
The role of motor proteins in photoreceptor protein transport and visual function	5
Ocular findings in pediatric turner syndrome	5
Secondary enucleated retinoblastoma with MYCN amplification	5
The evolving role of genetics in ophthalmology	5
Novel heterozygous variants in PXDN cause different anterior segment dysgenesis phenotypes in monozygotic twins	5
RDH12 retinopathy: clinical features, biology, genetics and future directions	5
Visual and ocular findings in a family with X-linked cone dysfunction and protanopia	5
Novel FZD4 and LRP5 mutations in a small cohort of patients with familial exudative vitreoretinopathy (FEVR)	5
A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family	5
A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short stature	4
Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings	4
Novel MFSD8 mutation causing non-syndromic asymmetric adult-onset macular dystrophy	4
Identification of a novel nonsense variant in FYCO1 gene associated with infantile cataract and cortical atrophy	4
Cell Free DNA (cfDNA) in the Blood of Retinoblastoma Patients The Robert M. Ellsworth Lecture	4
Mosaic cat eye syndrome in a child with unilateral iris coloboma	4
TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases	4
An extended phenotype of RP1L1 maculopathy – case report	4
GPR143 genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular albinism	4
A proposal for an updated staging system for LCHADD retinopathy	4
Mitochondrial DNA A3243G variant-associated retinopathy: a meta-analysis of the clinical course of visual acuity and correlation with systemic manifestations	4
KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3	4
De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia	4
Polymorphism analysis of ADIPOQ gene in Greek patients with diabetic retinopathy	4
Macular atrophy in JAG1-related Alagille syndrome: a case series	4
Clinical characteristics of high myopia in female carriers of pathogenic RPGR mutations: a case series and review of the literature	4

Targeted long-read sequencing allows for rapid identification of pathogenic disease-causing variants in retinoblastoma	4
Complete congenital stationary night blindness associated with a novel NYX variant (p.Asn216Lys) in middle-aged and older adult patients	4
Multimodal imaging analysis of macular dystrophy in patient with maternally inherited diabetes and deafness (MIDD) with m.3243A>G mutation	4
Peripheral pigmented lesions in ABCA4-associated retinopathy	4
Natural history of Usher type 2 with the c.2299delG mutation of USH2A in a large cohort	4
Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity	4
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	4
Ocular manifestations and surgical interventions in pediatric patients with Koolen-de-Vries 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
Treatment and longitudinal follow-up of CNV associated with pattern dystrophy with novel PRPH2 variant	4
NYX-related Congenital Stationary Night Blindness in Two Siblings due to Probable Maternal Germline Mosaicism	3
Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome	3
Associations of TLR4 and IL-8 genes polymorphisms with age-related macular degeneration (AMD): a systematic review and meta-analysis	3
Clinical and molecular findings in patients with pattern dystrophy	3
Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing	3
An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome	3
Melphalan toxicity following treatment of retinoblastoma identified by pattern electroretinogram	3
Multimodal imaging in Schubert-Bornschein congenital stationary night blindness	3
Anophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of life	3
MERTK retinopathy: biomarkers assessing vision loss	3
Extensive rod and cone photoreceptor-cell degeneration in rat models of giant axonal neuropathy: implications for gene therapy of human disease	3
A novel frameshift variant inCEP78associated with nonsyndromic retinitis pigmentosa, and a review ofCEP78-related phenotypes	3
RPGRIP1 -related retinal disease presenting as isolated cone dysfunction	3
Long term ophthalmic complications of distal arthrogryposis type 5D	3
Readability, Content, and Accountability Assessment of Online Health Information for Retinitis Pigmentosa & Retinitis Pigmentosa Treatment Options	3
Investigation of genotype–phenotype relationship in Turkish patients with inherited retinal disease by next generation sequencing	3
Association of VEGFA, TIMP-3, and IL-6 gene polymorphisms with predisposition to optic neuritis and optic neuritis with multiple sclerosis	3
A new heterozygous mutation in the stop codon of CRYAB (p.X176Y) is liable for congenital posterior pole cataract in a Chinese family.	3
Effects of duration and number of symptoms on vision-related anxiety in patients with Inherited Retinal Diseases	3
The first reported case of a deletion of the entire RPGR gene in a family with X-linked retinitis pigmentosa	3
Infantile esotropia in a family with TUBB3 mutation associated congenital fibrosis of extraocular muscles	3
“Association of APOE gene polymorphisms with primary open angle glaucoma in Brazilian patients”	3
Multimodal imaging of retinitis pigmentosa associated with Mainzer-Saldino syndrome	3
Association of NOD1, NOD2, PYDC1 and PYDC2 genes with Behcet’s disease susceptibility and clinical manifestations	3
Management of a case of Enhanced S-cone syndrome with massive foveoschisis treated with pars plana vitrectomy with silicone oil tamponade	3
Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts	3
Clinical trial design for neuroprotection in RHO autosomal dominant retinitis pigmentosa; outcome measure considerations	3
A novel c.980C>G variant in OAT results in identifiable gyrate atrophy phenotype associated with retinal detachment in a young female	3
Chromosome 6p amplification detected in blood cell-free DNA in advanced intraocular retinoblastoma	3
Association of VEGFA promoter polymorphisms rs699947 and rs35569394 with diabetic retinopathy among North-Central Indian subjects: a case-control study	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
Severe foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in COL2A1 gene	3
Retinopathy and optic atrophy in a case of COQ2 -related primary coenzyme Q ₁₀ deficiency	3
Two siblings with GAPO syndrome: Ophthalmic presentation and histopathologic findings	3
A Novel Pathogenic NOD2 Variant in a Mother and Daughter with Blau Syndrome	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
Coats plus in prematurity	3
Occult Macular Dystrophy: a case report and major review	3
Photoaversion in inherited retinal diseases: clinical phenotypes, biological basis, and qualitative and quantitative assessment	3
A typical anterior retinoblastoma: diagnosis by aqueous humor cell-free DNA analysis	3
Poretti-Boltshauser syndrome: a rare differential diagnosis to consider in pediatric high myopia with retinal degeneration	3