Ophthalmic Genetics

Article	Citations
Positive feedback loop between vision-related anxiety and self-reported visual difficulty	35
Further evidence that a specific homozygous CLDN19 variant results in non-syndromic maculopathy and can be mistaken for prior ocular toxoplasmosis infection	29
Unilateral posterior polymorphous corneal dystrophy due to a novel ZEB1 gene mutation in a Korean girl	12
RPGRIP1 -related retinal disease presenting as isolated cone dysfunction	12
Astrocytic hamartoma in a patient heterozygous for RIM1 mutation associated-retinal dystrophy	12
X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort	12
Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development	11
Association of genetic variants in PDGFRA with high myopia in the Han population of southwestern China	10
PNPLA6 disorders: what’s in a name?	10
ICAM-1 K469E gene polymorphism, genotype−phenotype correlation, and retinopathy in Type 2 diabetes mellitus patients	10
OCT imaging of macular cysts and treatment response with nepafenac in mucopolysaccharidosis type 1	9
Ligneous conjunctivitis mimicking preseptal cellulitis in a 3-month-old infant	9
TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases	9
Novel chorioretinal findings in two siblings with mucopolysaccharidosis type VI	9
Systematic study of ophthalmological findings in 10 patients with PEX1 -mediated Zellweger spectrum disorder	8
Keratoconus in hereditary spastic paraplegia 15 and Kjellin syndrome: a case report	8
Identification of novel cis-mutations in the GJA8 gene in a 3-generation Iranian family with autosomal dominant congenital nuclear cataract	8
An extended phenotype of RP1L1 maculopathy – case report	8
Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, CFAP410 , associated with selective cone degeneration	8
A novel LTBP2 gene variant in a Turkish family with juvenile-onset open-angle glaucoma	8
Clinical and molecular findings in children with retinitis pigmentosa	7
Congenital Myasthenic Syndrome associated with acetylcholine receptor deficiency: case report and review of the literature	7
Galloway-Mowat syndrome with retinal involvement associated with a novel WDR73 variant: case report and review of the literature	7
Floating-Harbor syndrome with chorioretinal colobomas	7
Genetic methylation in myopia	7

What have we learned about intraarterial chemotherapy (Ophthalmic Artery Chemosurgery) for retinoblastoma in the past 18 years? The third A. Linn Murphree Lecture	6
Clinical albinism score, presence of nystagmus and optic nerves defects are correlated with visual outcome in patients with oculocutaneous albinism	6
De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia	6
Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report	6
Heme oxygenase-1 gene rs2071746 polymorphism in retinal vein occlusion	6
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 dystrophy	6
MFRP variant results in nanophthalmos, retinitis pigmentosa, variability in foveal avascular zone	6
Ten things you learned in your residency about retinoblastoma that have changed the 2023 Victor T. Curtin Lecture	6
RBP4 -related eye disease in a Danish family with retinitis pigmentosa and congenital ocular malformations	6
Ocular findings in pediatric turner syndrome	6
Novel heterozygous PRPH2 variant identified in a patient with spinocerebellar ataxia type 14 and macular dystrophy	6
Association between vitamin D receptor polymorphisms and diabetic retinopathy in Uygur Chinese with type 2 diabetes	6
Aberrant gene expression yet undiminished retinal ganglion cell genesis in iPSC-derived models of optic nerve hypoplasia	5
The association of OPG polymorphisms with diabetic retinopathy in Chinese population	5
The association of five polymorphisms with diabetic retinopathy in a Chinese population	5
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome	5
The Vascular Pattern In Vicinity Of Chorioretinal Coloboma: An Optical Coherence Tomography Angiography Study	5
Novel LOXL3 -associated stickler syndrome-like phenotype: a case report	5
Congenital corneal staphyloma in 8q21.11 microdeletion syndrome	5
Are vitamin D receptor gene rs731236, rs2228570 and NOS3 gene rs3138808 polymorphisms associated with diabetic retinopathy?	5
Machine learning demonstrates clinical utility in distinguishing retinoblastoma from pseudo retinoblastoma with RetCam images	4
The landscape of clinical trials research in inherited ophthalmic disease	4
Association between the rs1800624 and rs80096349 SNPs and diabetic retinopathy: a pilot study	4
Phenotypic expansion of KCNJ13- associated snowflake vitreoretinal degeneration	4
Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism	4
Oculoplastic surgery, diagnosis, and other matters in Freeman–Burian syndrome	4
Readability, Content, and Accountability Assessment of Online Health Information for Retinitis Pigmentosa & Retinitis Pigmentosa Treatment Options	4
Unusual fundus lesion in mosaic neurofibromatosis type 2	4
Anophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of life	4
A novel homozygous missense variant in POC1B causes cone dystrophy in a consanguineous Pakistani family	4
Novel variant of KIF11 associated with MCLMR syndrome	4
Female carrier of RPGR mutation presenting with high myopia	4
Biallelic occult macular dystrophy	4
Haplotype-based association study of TCF7L2 gene variants with the development of diabetic retinopathy in an Iranian population	4
Ocular phenotype in a patient with PAX2 gene mutation-associated papillorenal syndrome	4
Chromosome 6p amplification detected in blood cell-free DNA in advanced intraocular retinoblastoma	4
PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature	4
WDR19 -associated retinopathy presenting with adult-onset Stargardt-like phenotype	4
Infantile esotropia in a family with TUBB3 mutation associated congenital fibrosis of extraocular muscles	4
Primary congenital glaucoma in two siblings with different compound heterozygous CYP1B1 genotypes	4
An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population	4
Exome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa	4
Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity	4
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 report	4
Genetic detection of a novel LRAT pathogenic variant in patients with early-onset severe retinal dystrophy	4
Visual functions, ocular characteristics and visual quality of life in patients with homocystinuria	4
Lack of genetic association of non-melanoma skin cancer and pseudoexfoliative glaucoma	3
Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of females	3
Genotype and phenotype characteristics of X-linked retinoschisis: the first report of a Turkish population	3

Vascular and structural analyses of retinal and choroidal alterations in Fabry disease: the effect of hyperreflective foci and retinal vascular tortuosity	3
Anisometropia and asymmetric ABCA4-related cone-rod dystrophy	3
Analysis of candidate variants in a Chinese family with monozygotic twins with keratoconus: a case report	3
Novel compound heterozygous variants in SIX6 cause a PAX2 like Dysplastic Optic Disc with macular abnormalities without coexistent microph	3
Birt-Hogg-Dubé syndrome associated with chorioretinopathy and nyctalopia: a case report and review of the literature	3
The phenotypic spectrum of syndromic optic atrophy associated with variants in WFS1 : with reclassification of p.Val606Gly as a likely benign variant	3
Identification of AIRE pathogenic variants ends diagnostic odyssey for Saudi child with infantile-onset keratoconjunctivitis as an early sign of autoimmune polyglandular	3
A proposal for an updated staging system for LCHADD retinopathy	3
A case of blepharophimosis: Freeman Sheldon syndrome	3
Bardet-Biedl syndrome with chorioretinal coloboma: a case series and review of literature	3
Usher syndrome in the United Arab Emirates	3
Phosphoribosyl pyrophosphate synthetase 1 ( PRPS1 ) associated retinal degeneration: an international study	3
Novel ferritin L-chain gene variant in a case of hereditary hyperferritinemia-cataract syndrome without family history	3
Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1	3
Melphalan toxicity following treatment of retinoblastoma identified by pattern electroretinogram	3
An unusual presentation of glaucoma in a neonate with Rubinstein-Taybi syndrome	3
Stem cell-based therapies for retinal diseases: focus on clinical trials and future prospects	3
Ectopia lentis associated with a 20-base deletion in the ADAMTSL4 gene in the Old Order Amish population	3
Association of NOD1, NOD2, PYDC1 and PYDC2 genes with Behcet’s disease susceptibility and clinical manifestations	3
Occult Macular Dystrophy: a case report and major review	3
Detailed structural abnormalities associated with a novel VCAN variant in a family with versican vitreoretinopathy	3
Current clinical practice and needs assessment in inherited eye diseases from the perspective of ophthalmologists	3
Telemedicine-based approach to caring for patients with inherited retinal diseases: patient satisfaction and diagnostic testing completion rates	3
The ethnic disparity in the diagnostic yield of high-throughput next-generation sequencing in inherited retinal diseases: a systematic review and meta-analysis	3
Pathogenicity reclassification of the RPE65 c.1580A>G (p.His527Arg) - a case report	3
Motivations and expectations of parents seeking genetic testing for their children with ocular genetic disease	3
Case of IFT140-associated Mainzer Saldino Syndrome	3
Exploring copy number variations in Lebanese families with rod-cone dystrophy reveals a novel deletion in PRPF31 with haploinsufficiency	3
Malignant teratoid intraocular ciliary body medulloepithelioma in a 5-year-old male with corresponding somatic copy number alteration profile of aqueous humor cell-free DNA	3
Seroreactivity against retinal proteins in a case of POC1B gene associated cone dystrophy with normal funduscopic appearance: a systematic approach to diagnosis	3
Choroidal calcifications in two cases of aplasia cutis congenita and oculoectodermal syndrome	3
PRPS1 -associated retinopathy: a diagnostic odyssey	3
Is there a predisposition to uveitis in Turner syndrome?	3
Genomic alterations in retinoblastoma tumors of Argentine patients	3
PAX6 gene promoter methylation is correlated with myopia in Chinese adolescents: a pilot sutdy	3
Variable expressivity of the autosomal dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a novel variant in BEST1	2
Acute intraoperative subgaleal hematoma associated with vitreoretinal surgery in a patient with Ehlers-Danlos Syndrome Type VI	2
Macular atrophy and focal choroidal excavation in a patient with JAG1 - related alagille syndrome	2
Hereditary motor and sensory neuropathy type VIA with optic nerve pallor in two sisters with pathologic myopia: a case series and review	2
Clinical and molecular findings in patients with pattern dystrophy	2
Biochemical measures of ovarian function in female survivors of retinoblastoma treated with intra-arterial melphalan: an initial report	2
Clinical and genetic study of a pseudo-dominant retinoschisis pedigree: the first female patient reported in Chinese population	2
Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis	2
The validation of inherited retinal disease-specific patient-reported outcome measures in adolescent patients	2
Iris melanoma outcomes based on the Cancer Genome Atlas (TCGA) classification in 78 consecutive patients	2
IMPDH1 -associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys314Gln and a comprehensive literature search	2
Unilateral posterior subcapsular cataract and lenticonus in a girl with Bloom’s syndrome – report of a rare case	2
Mutation analysis of the TGFBI gene in pedigrees of lattice corneal dystrophy in Eastern China	2
Novel RB1 germline mutation in a healthy man	2
Genetics and optical coherence tomography features in a child with an achromatic retinal patch	2
Homozygous MTHFR C667T carriers ≤45 years old develop central retinal vein occlusion five years earlier than wild type	2
Self-reported visual function and psychosocial impact of visual loss in EYS-associated retinal degeneration in a Portuguese population	2
Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in NMNAT1: a case report and mini review	2
A Stargardt disease-like phenotype in GAS8-related primary ciliary dyskinesia	2
Maternal transmission of RBP4 congenital eye disease: can Vitamin A help?	2
Band-shaped keratopathy in HNF4A -related Fanconi syndrome: a case report and review of the literature	2
MERTK missense variants in three patients with retinitis pigmentosa	2
Incidental finding of a pathogenic mosaicism in the NF1 gene detected by near infrared fundus imaging – a case report	2
Isolated aniridia caused by a novel PAX6 heterozygous deletion mediated by multi-exon complex rearrangement	2
Structural and functional characterization of an individual with the M285R KCNV2 hypomorphic allele	2
Mesencephalic astrocyte-derived neurotrophic factor upregulates CHOP and ATF6 in the rat retina with retinitis pigmentosa	2
Revisiting molecular diagnosis in a family with retinitis pigmentosa: integrating deep phenotyping and bioinformatic analysis	2
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 cohort	2
Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis	2
Evaluation of JUN, FN1 and LAMB1 polymorphisms in pterygium in a Chinese Han population	2
GPR143 genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular albinism	2
Neurofibromatosis type-2-related schwannomatosis presenting as peripapillary hamartoma: report on a novel NF2 mutation	2
Stargardt disease and progress in therapeutic strategies	2
Retinal arteriolar macroaneurysms with supravalvular pulmonic stenosis in the United Arab Emirates	2
The importance of genome sequencing: unraveling SSBP1 variant missed by exome sequencing	2
Reproductive counseling and decision making in females affected by X-linked inherited retinal disease: perspectives from carriers	2
Comprehensive insights into circular RNAs, miRNAs, and lncRNAs as biomarkers in retinoblastoma	2
Monoallelic missense variants in MAB21L1 cause a novel autosomal dominant microphthalmia	2
The first reported case of a deletion of the entire RPGR gene in a family with X-linked retinitis pigmentosa	2
Natural history of Usher type 2 with the c.2299delG mutation of USH2A in a large cohort	2
Traboulsi syndrome without features of Marfan syndrome caused by a novel homozygous ASPH variant associated with a heterozygous FBN1 variant	2
Association of EFEMP1 with juvenile-onset open angle glaucoma in a patient with concomitant COL11A1-related Stickler syndrome	2
A case of neurofibromatosis type 1 and unilateral glaucoma with ectropion uveae	2
Novel retinal finding in a patient with 4q12 deletion	2
Bilateral recurrent pseudodendritic keratopathy as the initial manifestation of tyrosinemia type II	2

RB1 germline mutation spectrum and clinical features in patients with unilateral retinoblastomas	2
Central retinal artery occlusion and subsequent amaurosis fugax in the contralateral eye associated with the G20210A prothrombin gene (F2) variant: a case report	2
A novel large multi-gene deletion in syndromic choroideremia	2
Microcephaly and chorioretinopathy associated with TUBGCP4: a case report and a review of the literature	2
Eye and ocular adnexa manifestations of MED12-related disorders	2
Isolated juvenile macular dystrophy without posterior column ataxia associated with FLVCR1 mutation	2
Variant in EZR leads to defects in lens development	2
Refractive errors, strabismus and ocular findings in children with different types of spinal muscular atrophy	2
Corneal involvement in a case of autosomal dominant Stargardt-like macular dystrophy (STGD3) with ELOVL4 mutation	2
Interleukin-1β-31 (rs1143627) genetic variant and the risk of age-related macular degeneration in the Brazilian population	2
Cone Rod Homeobox ( CRX ): literature review and new insights	2
Associations of TLR4 and IL-8 genes polymorphisms with age-related macular degeneration (AMD): a systematic review and meta-analysis	2
C1QTNF5 missense variant causing autosomal dominant gyrate atrophy-like choroidal dystrophy	2
Abetalipoproteinemia with angioid streaks, choroidal neovascularization, atrophy, and extracellular deposits revealed by multimodal retinal imaging	2
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	2
Childhood-onset retinal dystrophies reduces life-time income by one third - an individual based socio-economic analysis	2
Complex translocation leading to13q interstitial deletion in a Moroccan child with retinoblastoma and intellectual disability	2
A novel ocular phenotype associated with pathogenic variants in MFSD8 leading to macular dystrophy	2
Association of osteogenesis imperfecta and glaucoma: case report	2
Genetic screening of TGFBI in Iranian patients with TGFBI-associated corneal dystrophies and a meta-analysis of global variation frequencies	2
Whole-exome screening for primary congenital glaucoma in Lebanon	2
Ectopic vortex veins and varices in Donnai Barrow syndrome	2
RTN4IP1 -associated non-syndromic optic neuropathy and rod-cone dystrophy	2
Harboyan syndrome with biallelic SLC4A11 pathogenic variants misdiagnosed as congenital CMV infection	2
Family and genetic counseling in Leber hereditary optic neuropathy	2
Familial exudative vitreoretinopathy with TGFBR2 mutation without signs of Loeys-Dietz syndrome	2