Ophthalmic Genetics

Papers
(The median citation count of Ophthalmic Genetics is 1. 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
Unilateral posterior polymorphous corneal dystrophy due to a novel ZEB1 gene mutation in a Korean girl11
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
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
Novel chorioretinal findings in two siblings with mucopolysaccharidosis type VI10
RPGRIP1 -related retinal disease presenting as isolated cone dysfunction10
Association of genetic variants in PDGFRA with high myopia in the Han population of southwestern China9
Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development9
An extended phenotype of RP1L1 maculopathy – case report9
Systematic study of ophthalmological findings in 10 patients with PEX1 -mediated Zellweger spectrum disorder8
Heme oxygenase-1 gene rs2071746 polymorphism in retinal vein occlusion8
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
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
Association between vitamin D receptor polymorphisms and diabetic retinopathy in Uygur Chinese with type 2 diabetes7
Floating-Harbor syndrome with chorioretinal colobomas7
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
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
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
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
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
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
Chromosome 6p amplification detected in blood cell-free DNA in advanced intraocular retinoblastoma3
A proposal for an updated staging system for LCHADD retinopathy3
The phenotypic spectrum of syndromic optic atrophy associated with variants in WFS1 : with reclassification of p.Val606Gly as a likely benign variant3
Association of NOD1, NOD2, PYDC1 and PYDC2 genes with Behcet’s disease susceptibility and clinical manifestations3
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
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
Melphalan toxicity following treatment of retinoblastoma identified by pattern electroretinogram3
Usher syndrome in the United Arab Emirates3
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
Stem cell-based therapies for retinal diseases: focus on clinical trials and future prospects3
Genomic alterations in retinoblastoma tumors of Argentine patients3
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
The validation of inherited retinal disease-specific patient-reported outcome measures in adolescent patients2
RTN4IP1 -associated non-syndromic optic neuropathy and rod-cone dystrophy2
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
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
Familial exudative vitreoretinopathy with TGFBR2 mutation without signs of Loeys-Dietz syndrome2
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
Whole-exome screening for primary congenital glaucoma in Lebanon2
Isolated juvenile macular dystrophy without posterior column ataxia associated with FLVCR1 mutation2
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
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
MERTK missense variants in three patients with retinitis pigmentosa2
Stargardt disease and progress in therapeutic strategies2
Bilateral recurrent pseudodendritic keratopathy as the initial manifestation of tyrosinemia type II2
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
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
Comprehensive insights into circular RNAs, miRNAs, and lncRNAs as biomarkers in retinoblastoma2
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
Evaluation of JUN, FN1 and LAMB1 polymorphisms in pterygium in a Chinese Han population2
Reproductive counseling and decision making in females affected by X-linked inherited retinal disease: perspectives from carriers2
Retinal arteriolar macroaneurysms with supravalvular pulmonic stenosis in the United Arab Emirates2
A case of neurofibromatosis type 1 and unilateral glaucoma with ectropion uveae2
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
Choroidal calcifications in two cases of aplasia cutis congenita and oculoectodermal syndrome2
Association of EFEMP1 with juvenile-onset open angle glaucoma in a patient with concomitant COL11A1-related Stickler 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
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
Abetalipoproteinemia with angioid streaks, choroidal neovascularization, atrophy, and extracellular deposits revealed by multimodal retinal imaging2
Association of osteogenesis imperfecta and glaucoma: case report2
A Stargardt disease-like phenotype in GAS8-related primary ciliary dyskinesia2
Unilateral posterior subcapsular cataract and lenticonus in a girl with Bloom’s syndrome – report of a rare case2
Acute intraoperative subgaleal hematoma associated with vitreoretinal surgery in a patient with Ehlers-Danlos Syndrome Type VI2
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
MERTK retinopathy: biomarkers assessing vision loss1
Association of RAGE rs1800624 and rs1800625 gene polymorphisms with predisposition to optic neuritis and optic neuritis together with multiple sclerosis1
Ocular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndrome1
Typical best vitelliform dystrophy secondary to biallelic variants in BEST11
A novel stop codon mutation of TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy1
Association between single nucleotide polymorphisms in exon 3 of the alpha-A-crystallin gene and susceptibility to age-related cataract1
Corneal endothelial cell morphology in children with autosomal recessive Alport syndrome: a longitudinal study1
Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts1
Diagnostic yield of targeted next-generation sequencing in infantile nystagmus syndrome1
Initial diagnoses of patients found to be homozygous for a KCNV2 founder mutation on the Arabian Peninsula (c.427G>T; p.Glu143*)1
AAMR syndrome in a 22-month-old and literature review1
Deletion of exon 4 of the PITX2 in a child with Axenfeld–Rieger syndrome1
Pathogenic variants of MFRP and PRSS56 genes are major causes of nanophthalmos in Japanese patients1
A novel frameshift variant inCEP78associated with nonsyndromic retinitis pigmentosa, and a review ofCEP78-related phenotypes1
Interleukin-1β-31 (rs1143627) genetic variant and the risk of age-related macular degeneration in the Brazilian population1
The role of motor proteins in photoreceptor protein transport and visual function1
Vitreous involvement as initial presentation of hereditary transthyretin amyloidosis related to the rare TTR Ile107Met (p.Ile127Met) pathogenic variant1
Management of a case of Enhanced S-cone syndrome with massive foveoschisis treated with pars plana vitrectomy with silicone oil tamponade1
Association of variants in the ATXN2 (rs7137828), FOXC1 (rs2745572) and TXNRD2 (rs35934224) genes as risk factors for primary open-angle glaucoma development in a Brazilian cohort1
Atypical fundoscopic manifestation with good visual prognosis in familial hypomagnesemia with hypercalciuria and nephrocalcinosis1
Identification of regulatory genes associated with POAG by integrating expression and sequencing data1
Concurrent novel mutations in PAX3 and CFAP410 in a patient with Waardenburg syndrome type 1 associated with Retinitis Pigmentosa1
Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome1
The genetic spectrum and clinical features of X-linked juvenile retinoschisis in Central China1
Case report: ocular manifestations of NFIX -associated Malan syndrome1
Understanding the propensity to undergo genetic testing in patients affected by inherited retinal diseases: a twelve-item questionnaire1
GPR143 genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular albinism1
ROSAH syndrome presenting with recurrent vitreous hemorrhage: a multimodal imaging study1
The phenotypic spectrum of CEP250 gene variants1
Experiences of genetic testing among individuals with retinitis pigmentosa1
Novel CHRDL1 mutation causing X-linked megalocornea in a family with mild anterior segment manifestations in carrier females1
Consolidating data on the association of IL-6 and IL-10 polymorphisms with the development of glaucoma: a meta-analysis1
Idiopathic intracranial hypertension in a child with Bardet–Biedl syndrome1
Severe retinal complications in Knobloch Syndrome - Three siblings without clinically apparent occipital defects and a review of the literature1
Osteopathia striata with cranial sclerosis causing a compressive optic neuropathy1
Ophthalmic findings in Alström syndrome1
Identification of novel genes by targeted exome sequencing in Retinoblastoma1
Progeroid syndrome of De Barsy – a case report and review of ophthalmic literature1
Unraveling Hermansky–Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of DTNBP1 variants1
MYCN amplification levels in primary retinoblastoma tumors analyzed by Multiple Ligation-dependent Probe Amplification1
Ophthalmic manifestations of MEPAN syndrome1
Mild retinitis pigmentosa, including sector retinitis pigmentosa associated with 2 pathogenic variants in CDH231
The influence of congenital corneal opacity on ERGs obtained using an abbreviated protocol1
Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome – A case report and review of literature1
Clinical and genetic study of a pseudo-dominant retinoschisis pedigree: the first female patient reported in Chinese population1
Novel MFSD8 mutation causing non-syndromic asymmetric adult-onset macular dystrophy1
Refractive errors in patients with Bardet Biedl syndrome1
A novel frameshift variant in the GJA1 gene is associated with recessive oculodentodigital dysplasia1
Expanding the phenotype of mucopolysaccharidosis type II retinopathy1
Confirmation of association of TGFBI p.Ser591Phe mutation with variant lattice corneal dystrophy1
Retinal and optic nerve relapse in retinoblastoma secondary to epiretinal and epipapillary vitreous seeds implantation documented by optical coherence tomography1
Macular atrophy in JAG1-related Alagille syndrome: a case series1
Role of CFH Y402H and ARMS2 A69S polymorphisms in susceptibility to post rhegmatogenous retinal detachment macular complications1
Disease progression of retinitis pigmentosa caused by PRPF31 variants in a Nordic population: a retrospective study with up to 36 years follow-up1
Cell Free DNA (cfDNA) in the Blood of Retinoblastoma Patients The Robert M. Ellsworth Lecture1
Absence of significant genetic alterations in the VSX1, SOD1, TIMP3, and LOX genes in Brazilian patients with Keratoconus1
Effects of duration and number of symptoms on vision-related anxiety in patients with Inherited Retinal Diseases1
Extensive rod and cone photoreceptor-cell degeneration in rat models of giant axonal neuropathy: implications for gene therapy of human disease1
Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy1
A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping1
High myopia and vitreal veils in a patient with Poretti– Boltshauser syndrome due to a novel homozygous LAMA1 mutation1
Modifiers and their impact on inherited retinal diseases: a review1
Severe foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in COL2A1 gene1
ABCA4 variant screening in a Turkish cohort with Stargardt disease1
Bilateral plaque like macular atrophy and pigmentary retinopathy in an infant with a missense mutation in the MFF gene1
A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome1
Refractive errors, strabismus and ocular findings in children with different types of spinal muscular atrophy1
Harel Yoon syndrome: a novel mutation in ATAD3A gene and expansion of the clinical spectrum1
OTX2mutation associated with severe myopia in a Canadian family1
Posterior microphthalmos with retinal involvement related to MFRP gene: a report of 10 Brazilian patients1
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