Ophthalmic Genetics

Article	Citations
OCT imaging of macular cysts and treatment response with nepafenac in mucopolysaccharidosis type 1	105
Acute intraoperative subgaleal hematoma associated with vitreoretinal surgery in a patient with Ehlers-Danlos Syndrome Type VI	26
An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome	23
Disease progression of retinitis pigmentosa caused by PRPF31 variants in a Nordic population: a retrospective study with up to 36 years follow-up	14
Identification of a novel CRB1 variant in a compound heterozygous state in a patient with CRB1-associated maculopathy and foveal retinoschisis	12
Clinical and molecular findings in patients with pattern dystrophy	11
Retinal and optic nerve relapse in retinoblastoma secondary to epiretinal and epipapillary vitreous seeds implantation documented by optical coherence tomography	11
Familial exudative vitreoretinopathy with TGFBR2 mutation without signs of Loeys-Dietz syndrome	11
Clinical characteristics of high myopia in female carriers of pathogenic RPGR mutations: a case series and review of the literature	10
Norrie disease with a spontaneously shrinking choroid plexus abnormality: a case report	10
Ectopic vortex veins and varices in Donnai Barrow syndrome	9
Positive feedback loop between vision-related anxiety and self-reported visual difficulty	8
Oculoplastic surgery, diagnosis, and other matters in Freeman–Burian syndrome	8
Congenital inner eyelid folds	8
Astrocytic hamartoma in a patient heterozygous for RIM1 mutation associated-retinal dystrophy	8
Is RPGR-related retinal dystrophy associated with systemic disease? A case series	8
Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism	8
Schimmelpenning-Feuerstein-Mims syndrome with orbital choristoma and KRAS mutation: a current review and novel case report	7
Mutations in AGBL5 associated with Retinitis pigmentosa	7
Association of genetic variants in PDGFRA with high myopia in the Han population of southwestern China	7
Male infertility may be associated with IFT140 -related autosomal recessive retinitis pigmentosa	7
X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort	7
A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants	7
Familial exudative vitreoretinopathy (FEVR) in a child with a Jagged 1 variant identified on genetic testing	7
Haplotype-based association study of TCF7L2 gene variants with the development of diabetic retinopathy in an Iranian population	7

Retinal dystrophy as part of TTC21B-associated ciliopathy	7
PNPLA6 disorders: what’s in a name?	6
A novel LTBP2 gene variant in a Turkish family with juvenile-onset open-angle glaucoma	6
Association of GNB3 , ACE polymorphisms with POAG and NTG	6
Biallelic occult macular dystrophy	6
GAPO syndrome: a novel variant in ANTXR1 gene	6
AAMR syndrome in a 22-month-old and literature review	5
Ligneous conjunctivitis mimicking preseptal cellulitis in a 3-month-old infant	5
Local progression kinetics of macular atrophy in recessive Stargardt disease	5
Evaluation of JUN, FN1 and LAMB1 polymorphisms in pterygium in a Chinese Han population	5
Nevoid basal cell carcinoma syndrome: a case report and literature review	5
A patient with X-linked retinoschisis and exudative retinal detachment associated with a pathogenic hemizygous variant c.304c>T in RS1	5
Effects of duration and number of symptoms on vision-related anxiety in patients with Inherited Retinal Diseases	5
Oliver McFarlane syndrome: two new cases and a review of the literature	5
Severe foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in COL2A1 gene	5
Septo-optic dysplasia presenting with nystagmus, pseudo-disc edema, and fovea hypoplasia	5
A case of neurofibromatosis type 1 and unilateral glaucoma with ectropion uveae	5
Exome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa	5
Adult-onset bestrophinopathy mistaken as central serous chorioretinopathy	5
Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts	5
A novel variant affecting the cytoplasmic tail of the FAT1 protocadherin causing coloboma and renal failure: A case report	5
Variant in EZR leads to defects in lens development	5
Idiopathic intracranial hypertension in a child with Bardet–Biedl syndrome	5
Central retinal artery occlusion and subsequent amaurosis fugax in the contralateral eye associated with the G20210A prothrombin gene (F2) variant: a case report	5
Unilateral posterior polymorphous corneal dystrophy due to a novel ZEB1 gene mutation in a Korean girl	5
Uncommon fundus presentation of Koolen-De Vries Syndrome in a young boy	4
Novel CHRDL1 mutation causing X-linked megalocornea in a family with mild anterior segment manifestations in carrier females	4
Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis	4
Pathogenic variants of MFRP and PRSS56 genes are major causes of nanophthalmos in Japanese patients	4
Biochemical measures of ovarian function in female survivors of retinoblastoma treated with intra-arterial melphalan: an initial report	4
Novel heterozygous variants in PXDN cause different anterior segment dysgenesis phenotypes in monozygotic twins	4
Novel chorioretinal findings in two siblings with mucopolysaccharidosis type VI	4
IL1A and IL1B gene polymorphisms and keratoconus susceptibility: evidence from an updated meta-analysis	4
Development of neovascular glaucoma after intraocular surgery in Pierson syndrome	4
TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases	4
Corneal ectasia associated with posterior lamellar opacification	4
An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population	4
Variability of retinopathy consequent upon novel mutations in LAMA1	4
Associations between OPA1, MFN1, and MFN2 polymorphisms and primary open angle glaucoma in Polish participants of European ancestry	4
Isolated juvenile macular dystrophy without posterior column ataxia associated with FLVCR1 mutation	4
Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome	4
Very Large Cystoid Macular Lesions Identified Using Outlier Analysis of Genetically Confirmed Inherited Retinal Disease Cases	4
Osteopathia striata with cranial sclerosis causing a compressive optic neuropathy	4
Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China	4
Current concepts on diffuse choroidal hemangioma in Sturge Weber syndrome	4
Pigmentary retinopathy with perivascular sparing in a SOFT syndrome patient with a novel homozygous splicing variant in POC1A gene	4
Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development	4
RDH12 retinopathy: clinical features, biology, genetics and future directions	4
Motivations and expectations of parents seeking genetic testing for their children with ocular genetic disease	3
RBP4-related eye disease in a Danish family with retinitis pigmentosa and congenital ocular malformations	3

Genetic methylation in myopia	3
Congenital Myasthenic Syndrome associated with acetylcholine receptor deficiency: case report and review of the literature	3
Ocular phenotype in a patient with PAX2 gene mutation-associated papillorenal syndrome	3
Isolated aniridia caused by a novel PAX6 heterozygous deletion mediated by multi-exon complex rearrangement	3
Novel retinal finding in a patient with 4q12 deletion	3
RPGRIP1 -related retinal disease presenting as isolated cone dysfunction	3
Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series	3
ICAM-1 K469E gene polymorphism, genotype−phenotype correlation, and retinopathy in Type 2 diabetes mellitus patients	3
Novel RB1 germline mutation in a healthy man	3
Posterior microphthalmos with retinal involvement related to MFRP gene: a report of 10 Brazilian patients	3
Macular atrophy and focal choroidal excavation in a patient with JAG1 - related alagille syndrome	3
Foveal hypoplasia in a Chinese adolescent with 48, XXYY syndrome	3
A novel stop-gain NF1 variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas	3
Genotype and phenotype characteristics of X-linked retinoschisis: the first report of a Turkish population	3
Revisiting molecular diagnosis in a family with retinitis pigmentosa: integrating deep phenotyping and bioinformatic analysis	3
Eye and ocular adnexa manifestations of MED12-related disorders	3
A novel frameshift variant in the GJA1 gene is associated with recessive oculodentodigital dysplasia	3
Pathogenicity reclassification of the RPE65 c.1580A>G (p.His527Arg) - a case report	3
Photoaversion in inherited retinal diseases: clinical phenotypes, biological basis, and qualitative and quantitative assessment	3
Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity	3
An extended phenotype of RP1L1 maculopathy – case report	3
The genetic spectrum and clinical features of X-linked juvenile retinoschisis in Central China	3
Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of females	3
Band-shaped keratopathy in HNF4A -related Fanconi syndrome: a case report and review of the literature	3
Further evidence that a specific homozygous CLDN19 variant results in non-syndromic maculopathy and can be mistaken for prior ocular toxoplasmosis infection	3
William Gregory (Bill) Pearce MD, FRCS(C)	3
Clinical characterization of patients with PRPF31 -related retinitis pigmentosa and asymptomatic carriers: a cross-sectional study	3
Using crowdsourcing to understand patients attitudes toward a clinical trial for retinitis pigmentosa requiring 4 years of participation	3
Abetalipoproteinemia with angioid streaks, choroidal neovascularization, atrophy, and extracellular deposits revealed by multimodal retinal imaging	3
A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1	3
Visual outcome, ocular findings, and visual quality of life in patients with Fabry disease	3
Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism	3
Did Edgar Degas have Stargardt disease?	2
De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia	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
A case of blepharophimosis: Freeman Sheldon syndrome	2
Typical best vitelliform dystrophy secondary to biallelic variants in BEST1	2
Novel ATF6 homozygous variant in a Chinese patient with achromatopsia	2
Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1	2
Experiences of genetic testing among individuals with retinitis pigmentosa	2
Ocular manifestations in a 2 year-old patient with a DYNC1H1 mutation	2
Association between single nucleotide polymorphisms in exon 3 of the alpha-A-crystallin gene and susceptibility to age-related cataract	2
The phenotypic spectrum of CEP250 gene variants	2
Genetic screening of TGFBI in Iranian patients with TGFBI-associated corneal dystrophies and a meta-analysis of global variation frequencies	2
Absence of significant genetic alterations in the VSX1, SOD1, TIMP3, and LOX genes in Brazilian patients with Keratoconus	2
Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review	2
Envisioning the development of a CRISPR-Cas mediated base editing strategy for a patient with a novel pathogenic CRB1 single nucleotide variant	2
Correction	2
Bioinformatics analysis of GNAQ, GNA11, BAP1, SF3B1,SRSF2, EIF1AX, PLCB4, and CYSLTR2 genes and their role in the pathogenesis of Uveal Melanoma	2
Identification of a novel de novo variant in OTX2 in a patient with congenital microphthalmia using targeted next-generation sequencing followed by prenatal diagnosis	2
Keratoconus in a child with partial trisomy 13	2
Chromosome 6p amplification detected in blood cell-free DNA in advanced intraocular retinoblastoma	2
Correlation of the intronic LOXL1 polymorphism rs11638944 with pseudoexfoliation syndrome and glaucoma in a Greek population	2
Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional retinal detachment in an infant with multiple congenital anomalies-hypotony-seizures syndrome 3	2
Complex translocation leading to13q interstitial deletion in a Moroccan child with retinoblastoma and intellectual disability	2
Polymorphism analysis of ADIPOQ gene in Greek patients with diabetic retinopathy	2
Incomplete penetrance of autosomal recessive anophthalmia in a large consanguineous family	2
What have we learned about intraarterial chemotherapy (Ophthalmic Artery Chemosurgery) for retinoblastoma in the past 18 years? The third A. Linn Murphree Lecture	2
Ten things you learned in your residency about retinoblastoma that have changed the 2023 Victor T. Curtin Lecture	2
Spectrum and tissue distribution of RB1 pathogenic alleles in mosaic retinoblastoma patients	2
Pseudoxanthoma elasticum and retinitis pigmentosa in a patient with a novel mutation in the ABCC6 gene	2
Floating-Harbor syndrome with chorioretinal colobomas	2
Wolfram syndrome with vitelliform retinal deposits	2
Neurofibromatosis type-2-related schwannomatosis presenting as peripapillary hamartoma: report on a novel NF2 mutation	2
Vascular and structural analyses of retinal and choroidal alterations in Fabry disease: the effect of hyperreflective foci and retinal vascular tortuosity	2
Macular atrophy in JAG1-related Alagille syndrome: a case series	2
Galloway-Mowat syndrome with retinal involvement associated with a novel WDR73 variant: case report and review of the literature	2
Confirmation of association of TGFBI p.Ser591Phe mutation with variant lattice corneal dystrophy	2
Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome	2
Inherited retinal diseases are the most common cause of blindness in the working-age population in Australia	2
Relationship between Fitzpatrick Skin Type and The Cancer Genome Atlas Classification with Melanoma-Related Metastasis and Death in 854 Patients at a Single Ocular Oncology Center	2
Cone pathway dysfunction in Jalili syndrome due to a novel familial variant of CNNM4 revealed by pupillometry and electrophysiologic investigations	2
Heme oxygenase-1 gene rs2071746 polymorphism in retinal vein occlusion	2
Novel MFSD8 mutation causing non-syndromic asymmetric adult-onset macular dystrophy	2
Readability, Content, and Accountability Assessment of Online Health Information for Retinitis Pigmentosa & Retinitis Pigmentosa Treatment Options	2
Telemedicine-based approach to caring for patients with inherited retinal diseases: patient satisfaction and diagnostic testing completion rates	2
Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy	2
Monoallelic missense variants in MAB21L1 cause a novel autosomal dominant microphthalmia	2
Association of RAGE rs1800624 and rs1800625 gene polymorphisms with predisposition to optic neuritis and optic neuritis together with multiple sclerosis	2
Torpedo-like lesions in the ocular fundi of Gardner syndrome: hiding in plain view	2

Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, CFAP410 , associated with selective cone degeneration	2
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	2
Heterozygote MTHFR A1298C mutation in a case of autosomal recessive bestrophinopathy with branch retinal vein occlusion	2
Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and	2
Clinical and molecular findings in children with retinitis pigmentosa	2
Microcephaly and chorioretinopathy associated with TUBGCP4: a case report and a review of the literature	2
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	2
Understanding the propensity to undergo genetic testing in patients affected by inherited retinal diseases: a twelve-item questionnaire	2
Systematic study of ophthalmological findings in 10 patients with PEX1 -mediated Zellweger spectrum disorder	2
A novel homozygous nonsense variant in CABP4 causing stationary cone/rod synaptic dysfunction	2
Identification of novel cis-mutations in the GJA8 gene in a 3-generation Iranian family with autosomal dominant congenital nuclear cataract	2
Analysis of candidate variants in a Chinese family with monozygotic twins with keratoconus: a case report	2
Long term ophthalmic complications of distal arthrogryposis type 5D	2
Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in theC1QTNF5gene	2
Harboyan syndrome with biallelic SLC4A11 pathogenic variants misdiagnosed as congenital CMV infection	2
Phosphoribosyl pyrophosphate synthetase 1 ( PRPS1 ) associated retinal degeneration: an international study	2
Congenital simple hamartoma of the retinal pigment epithelium: 4 cases with multimodal imaging	2
A novel stop codon mutation of TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy	2
Association of GSTM1, GSTT1, and GSTP1 Ile105Val polymorphisms with risk of age-related macular degeneration: a meta-analysis	2
Retinoblastoma and uveal melanoma in Jordan: incidence, demographics, and survival (2011-2020)	2