Ophthalmic Genetics

Papers
(The TQCC of Ophthalmic Genetics is 2. 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 2021-05-01 to 2025-05-01.)
ArticleCitations
Positive feedback loop between vision-related anxiety and self-reported visual difficulty126
A novel LTBP2 gene variant in a Turkish family with juvenile-onset open-angle glaucoma33
Further evidence that a specific homozygous CLDN19 variant results in non-syndromic maculopathy and can be mistaken for prior ocular toxoplasmosis infection29
Astrocytic hamartoma in a patient heterozygous for RIM1 mutation associated-retinal dystrophy11
TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases11
OCT imaging of macular cysts and treatment response with nepafenac in mucopolysaccharidosis type 111
Unilateral posterior polymorphous corneal dystrophy due to a novel ZEB1 gene mutation in a Korean girl11
Novel chorioretinal findings in two siblings with mucopolysaccharidosis type VI10
RPGRIP1 -related retinal disease presenting as isolated cone dysfunction10
X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort10
Ligneous conjunctivitis mimicking preseptal cellulitis in a 3-month-old infant10
Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development9
An extended phenotype of RP1L1 maculopathy – case report9
Association of genetic variants in PDGFRA with high myopia in the Han population of southwestern China9
Identification of novel cis-mutations in the GJA8 gene in a 3-generation Iranian family with autosomal dominant congenital nuclear cataract8
ICAM-1 K469E gene polymorphism, genotype−phenotype correlation, and retinopathy in Type 2 diabetes mellitus patients8
Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, CFAP410 , associated with selective cone degeneration8
PNPLA6 disorders: what’s in a name?8
Systematic study of ophthalmological findings in 10 patients with PEX1 -mediated Zellweger spectrum disorder8
Heme oxygenase-1 gene rs2071746 polymorphism in retinal vein occlusion8
Association between vitamin D receptor polymorphisms and diabetic retinopathy in Uygur Chinese with type 2 diabetes7
Floating-Harbor syndrome with chorioretinal colobomas7
RBP4 -related eye disease in a Danish family with retinitis pigmentosa and congenital ocular malformations7
Clinical and molecular findings in children with retinitis pigmentosa7
Congenital Myasthenic Syndrome associated with acetylcholine receptor deficiency: case report and review of the literature7
Genetic methylation in myopia7
Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and 6
A rare case of RGR/CDHR1 haplotype identified in Bulgarian patient with cone-rod dystrophy6
Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report6
Clinical albinism score, presence of nystagmus and optic nerves defects are correlated with visual outcome in patients with oculocutaneous albinism6
Ten things you learned in your residency about retinoblastoma that have changed the 2023 Victor T. Curtin Lecture6
Ocular findings in pediatric turner syndrome6
Novel heterozygous PRPH2 variant identified in a patient with spinocerebellar ataxia type 14 and macular dystrophy6
Galloway-Mowat syndrome with retinal involvement associated with a novel WDR73 variant: case report and review of the literature6
What have we learned about intraarterial chemotherapy (Ophthalmic Artery Chemosurgery) for retinoblastoma in the past 18 years? The third A. Linn Murphree Lecture6
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome6
Congenital corneal staphyloma in 8q21.11 microdeletion syndrome6
Novel variant of KIF11 associated with MCLMR syndrome5
A novel homozygous missense variant in POC1B causes cone dystrophy in a consanguineous Pakistani family5
The Vascular Pattern In Vicinity Of Chorioretinal Coloboma: An Optical Coherence Tomography Angiography Study5
Infantile esotropia in a family with TUBB3 mutation associated congenital fibrosis of extraocular muscles5
Aberrant gene expression yet undiminished retinal ganglion cell genesis in iPSC-derived models of optic nerve hypoplasia5
The landscape of clinical trials research in inherited ophthalmic disease5
The association of OPG polymorphisms with diabetic retinopathy in Chinese population5
Leber’s Hereditary Optic Neuropathy with visual recovery caused by two rare mutations5
Novel LOXL3 -associated stickler syndrome-like phenotype: a case report5
MFRP variant results in nanophthalmos, retinitis pigmentosa, variability in foveal avascular zone5
De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia5
The association of five polymorphisms with diabetic retinopathy in a Chinese population5
Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH5
Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity4
Phenotypic expansion of KCNJ13- associated snowflake vitreoretinal degeneration4
Machine learning demonstrates clinical utility in distinguishing retinoblastoma from pseudo retinoblastoma with RetCam images4
PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature4
Association between the rs1800624 and rs80096349 SNPs and diabetic retinopathy: a pilot study4
Oculoplastic surgery, diagnosis, and other matters in Freeman–Burian syndrome4
Corneal ectasia associated with posterior lamellar opacification4
Ocular phenotype in a patient with PAX2 gene mutation-associated papillorenal syndrome4
An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population4
Biallelic occult macular dystrophy4
Female carrier of RPGR mutation presenting with high myopia4
Anophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of life4
Visual functions, ocular characteristics and visual quality of life in patients with homocystinuria4
Exome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa4
Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of females4
A case of blepharophimosis: Freeman Sheldon syndrome4
Unilateral lattice corneal dystrophy with c.1501C>A (p.P501T) and c.1733T>C (p.L578P) variants in the transforming growth factor-beta induced gene: a case report4
Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism4
Unusual fundus lesion in mosaic neurofibromatosis type 24
Primary congenital glaucoma in two siblings with different compound heterozygous CYP1B1 genotypes4
WDR19 -associated retinopathy presenting with adult-onset Stargardt-like phenotype4
Novel heterozygous variants in PXDN cause different anterior segment dysgenesis phenotypes in monozygotic twins4
IL1A and IL1B gene polymorphisms and keratoconus susceptibility: evidence from an updated meta-analysis4
Analysis of candidate variants in a Chinese family with monozygotic twins with keratoconus: a case report4
Pathogenicity reclassification of the RPE65 c.1580A>G (p.His527Arg) - a case report4
Haplotype-based association study of TCF7L2 gene variants with the development of diabetic retinopathy in an Iranian population4
PRPS1 -associated retinopathy: a diagnostic odyssey3
Identification of AIRE pathogenic variants ends diagnostic odyssey for Saudi child with infantile-onset keratoconjunctivitis as an early sign of autoimmune polyglandular3
Usher syndrome in the United Arab Emirates3
Melphalan toxicity following treatment of retinoblastoma identified by pattern electroretinogram3
Telemedicine-based approach to caring for patients with inherited retinal diseases: patient satisfaction and diagnostic testing completion rates3
Current clinical practice and needs assessment in inherited eye diseases from the perspective of ophthalmologists3
Inherited retinal diseases are the most common cause of blindness in the working-age population in Australia3
Novel ferritin L-chain gene variant in a case of hereditary hyperferritinemia-cataract syndrome without family history3
The ethnic disparity in the diagnostic yield of high-throughput next-generation sequencing in inherited retinal diseases: a systematic review and meta-analysis3
Cone Rod Homeobox ( CRX ): literature review and new insights3
Genomic alterations in retinoblastoma tumors of Argentine patients3
Stem cell-based therapies for retinal diseases: focus on clinical trials and future prospects3
Anisometropia and asymmetric ABCA4-related cone-rod dystrophy3
Is there a predisposition to uveitis in Turner syndrome?3
Occult Macular Dystrophy: a case report and major review3
PAX6 gene promoter methylation is correlated with myopia in Chinese adolescents: a pilot sutdy3
An unusual presentation of glaucoma in a neonate with Rubinstein-Taybi syndrome3
Phosphoribosyl pyrophosphate synthetase 1 ( PRPS1 ) associated retinal degeneration: an international study3
Vascular and structural analyses of retinal and choroidal alterations in Fabry disease: the effect of hyperreflective foci and retinal vascular tortuosity3
Genotype and phenotype characteristics of X-linked retinoschisis: the first report of a Turkish population3
Chromosome 6p amplification detected in blood cell-free DNA in advanced intraocular retinoblastoma3
A proposal for an updated staging system for LCHADD retinopathy3
Association of NOD1, NOD2, PYDC1 and PYDC2 genes with Behcet’s disease susceptibility and clinical manifestations3
The phenotypic spectrum of syndromic optic atrophy associated with variants in WFS1 : with reclassification of p.Val606Gly as a likely benign variant3
Novel compound heterozygous variants in SIX6 cause a PAX2 like Dysplastic Optic Disc with macular abnormalities without coexistent microph3
Detailed structural abnormalities associated with a novel VCAN variant in a family with versican vitreoretinopathy3
Birt-Hogg-Dubé syndrome associated with chorioretinopathy and nyctalopia: a case report and review of the literature3
Bardet-Biedl syndrome with chorioretinal coloboma: a case series and review of literature3
Lack of genetic association of non-melanoma skin cancer and pseudoexfoliative glaucoma3
Readability, Content, and Accountability Assessment of Online Health Information for Retinitis Pigmentosa & Retinitis Pigmentosa Treatment Options3
Motivations and expectations of parents seeking genetic testing for their children with ocular genetic disease3
Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT13
Exploring copy number variations in Lebanese families with rod-cone dystrophy reveals a novel deletion in PRPF31 with haploinsufficiency3
Ectopia lentis associated with a 20-base deletion in the ADAMTSL4 gene in the Old Order Amish population3
Seroreactivity against retinal proteins in a case of POC1B gene associated cone dystrophy with normal funduscopic appearance: a systematic approach to diagnosis3
The first reported case of a deletion of the entire RPGR gene in a family with X-linked retinitis pigmentosa2
Harboyan syndrome with biallelic SLC4A11 pathogenic variants misdiagnosed as congenital CMV infection2
Novel retinal finding in a patient with 4q12 deletion2
Homozygous MTHFR C667T carriers ≤45 years old develop central retinal vein occlusion five years earlier than wild type2
Ectopic vortex veins and varices in Donnai Barrow syndrome2
Reproductive counseling and decision making in females affected by X-linked inherited retinal disease: perspectives from carriers2
A case of neurofibromatosis type 1 and unilateral glaucoma with ectropion uveae2
Retinal arteriolar macroaneurysms with supravalvular pulmonic stenosis in the United Arab Emirates2
A novel KCNV2 mutation in a patient taking hydroxychloroquine associated with cone dystrophy with supernormal rod response2
Mesencephalic astrocyte-derived neurotrophic factor upregulates CHOP and ATF6 in the rat retina with retinitis pigmentosa2
Hereditary motor and sensory neuropathy type VIA with optic nerve pallor in two sisters with pathologic myopia: a case series and review2
Isolated aniridia caused by a novel PAX6 heterozygous deletion mediated by multi-exon complex rearrangement2
Family and genetic counseling in Leber hereditary optic neuropathy2
IMPDH1 -associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys314Gln and a comprehensive literature search2
Association of EFEMP1 with juvenile-onset open angle glaucoma in a patient with concomitant COL11A1-related Stickler syndrome2
Choroidal calcifications in two cases of aplasia cutis congenita and oculoectodermal syndrome2
Case of IFT140-associated Mainzer Saldino Syndrome2
Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in NMNAT1: a case report and mini review2
Familial exudative vitreoretinopathy with TGFBR2 mutation without signs of Loeys-Dietz syndrome2
Genetics and optical coherence tomography features in a child with an achromatic retinal patch2
Revisiting molecular diagnosis in a family with retinitis pigmentosa: integrating deep phenotyping and bioinformatic analysis2
Self-reported visual function and psychosocial impact of visual loss in EYS-associated retinal degeneration in a Portuguese population2
Genetic screening of TGFBI in Iranian patients with TGFBI-associated corneal dystrophies and a meta-analysis of global variation frequencies2
Traboulsi syndrome without features of Marfan syndrome caused by a novel homozygous ASPH variant associated with a heterozygous FBN1 variant2
Complex translocation leading to13q interstitial deletion in a Moroccan child with retinoblastoma and intellectual disability2
Association of osteogenesis imperfecta and glaucoma: case report2
A Stargardt disease-like phenotype in GAS8-related primary ciliary dyskinesia2
Acute intraoperative subgaleal hematoma associated with vitreoretinal surgery in a patient with Ehlers-Danlos Syndrome Type VI2
Unilateral posterior subcapsular cataract and lenticonus in a girl with Bloom’s syndrome – report of a rare case2
Iris melanoma outcomes based on the Cancer Genome Atlas (TCGA) classification in 78 consecutive patients2
Clinical and molecular findings in patients with pattern dystrophy2
Microcephaly and chorioretinopathy associated with TUBGCP4: a case report and a review of the literature2
Biochemical measures of ovarian function in female survivors of retinoblastoma treated with intra-arterial melphalan: an initial report2
A novel large multi-gene deletion in syndromic choroideremia2
Central retinal artery occlusion and subsequent amaurosis fugax in the contralateral eye associated with the G20210A prothrombin gene (F2) variant: a case report2
Incidental finding of a pathogenic mosaicism in the NF1 gene detected by near infrared fundus imaging – a case report2
A novel ocular phenotype associated with pathogenic variants in MFSD8 leading to macular dystrophy2
RTN4IP1 -associated non-syndromic optic neuropathy and rod-cone dystrophy2
The validation of inherited retinal disease-specific patient-reported outcome measures in adolescent patients2
Comprehensive insights into circular RNAs, miRNAs, and lncRNAs as biomarkers in retinoblastoma2
Malignant teratoid intraocular ciliary body medulloepithelioma in a 5-year-old male with corresponding somatic copy number alteration profile of aqueous humor cell-free DNA2
Monoallelic missense variants in MAB21L1 cause a novel autosomal dominant microphthalmia2
Associations of TLR4 and IL-8 genes polymorphisms with age-related macular degeneration (AMD): a systematic review and meta-analysis2
Neurofibromatosis type-2-related schwannomatosis presenting as peripapillary hamartoma: report on a novel NF2 mutation2
Evaluation of JUN, FN1 and LAMB1 polymorphisms in pterygium in a Chinese Han population2
Mutation analysis of the TGFBI gene in pedigrees of lattice corneal dystrophy in Eastern China2
Band-shaped keratopathy in HNF4A -related Fanconi syndrome: a case report and review of the literature2
Corneal involvement in a case of autosomal dominant Stargardt-like macular dystrophy (STGD3) with ELOVL4 mutation2
Maternal transmission of RBP4 congenital eye disease: can Vitamin A help?2
Variant in EZR leads to defects in lens development2
Novel RB1 germline mutation in a healthy man2
Natural history of Usher type 2 with the c.2299delG mutation of USH2A in a large cohort2
Isolated juvenile macular dystrophy without posterior column ataxia associated with FLVCR1 mutation2
Whole-exome screening for primary congenital glaucoma in Lebanon2
Structural and functional characterization of an individual with the M285R KCNV2 hypomorphic allele2
Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis2
RB1 germline mutation spectrum and clinical features in patients with unilateral retinoblastomas2
Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis2
Variable expressivity of the autosomal dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a novel variant in BEST12
Childhood-onset retinal dystrophies reduces life-time income by one third - an individual based socio-economic analysis2
MERTK missense variants in three patients with retinitis pigmentosa2
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 chains2
Bilateral recurrent pseudodendritic keratopathy as the initial manifestation of tyrosinemia type II2
Stargardt disease and progress in therapeutic strategies2
Abetalipoproteinemia with angioid streaks, choroidal neovascularization, atrophy, and extracellular deposits revealed by multimodal retinal imaging2
Corneal curvature-associated MTOR variant differentiates mild myopia from high myopia in Han Chinese population2
Macular atrophy and focal choroidal excavation in a patient with JAG1 - related alagille syndrome2
The importance of genome sequencing: unraveling SSBP1 variant missed by exome sequencing2
Eye and ocular adnexa manifestations of MED12-related disorders2
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