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 2022-01-01 to 2026-01-01.)

Article	Citations
Astrocytic hamartoma in a patient heterozygous for RIM1 mutation associated-retinal dystrophy	15
Unilateral posterior polymorphous corneal dystrophy due to a novel ZEB1 gene mutation in a Korean girl	13
RPGRIP1 -related retinal disease presenting as isolated cone dysfunction	12
Novel chorioretinal findings in two siblings with mucopolysaccharidosis type VI	11
Honoring Professor Andreas Gal	11
Keratoconus in hereditary spastic paraplegia 15 and Kjellin syndrome: a case report	11
X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort	11
Positive feedback loop between vision-related anxiety and self-reported visual difficulty	11
Further evidence that a specific homozygous CLDN19 variant results in non-syndromic maculopathy and can be mistaken for prior ocular toxoplasmosis infection	10
Ligneous conjunctivitis mimicking preseptal cellulitis in a 3-month-old infant	10
A novel LTBP2 gene variant in a Turkish family with juvenile-onset open-angle glaucoma	10
ICAM-1 K469E gene polymorphism, genotype−phenotype correlation, and retinopathy in Type 2 diabetes mellitus patients	9
OCT imaging of macular cysts and treatment response with nepafenac in mucopolysaccharidosis type 1	9
PNPLA6 disorders: what’s in a name?	9
Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and	8
Heme oxygenase-1 gene rs2071746 polymorphism in retinal vein occlusion	8
Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, CFAP410 , associated with selective cone degeneration	8
Galloway-Mowat syndrome with retinal involvement associated with a novel WDR73 variant: case report and review of the literature	7
Clinical and molecular findings in children with retinitis pigmentosa	7
RBP4 -related eye disease in a Danish family with retinitis pigmentosa and congenital ocular malformations	7
A case of paternity-confirmed de novo R124H mutation resulting in granular corneal dystrophy type 2	7
Ten things you learned in your residency about retinoblastoma that have changed the 2023 Victor T. Curtin Lecture	7
Association between vitamin D receptor polymorphisms and diabetic retinopathy in Uygur Chinese with type 2 diabetes	7
Foveal hypoplasia in Myhre syndrome: a novel association	7
Identification of novel cis-mutations in the GJA8 gene in a 3-generation Iranian family with autosomal dominant congenital nuclear cataract	7

Floating-Harbor syndrome with chorioretinal colobomas	7
Branch retinal vein occlusion as a manifestation of systemic vasculopathy in CADASIL: a multimodal imaging case report	7
Genetic methylation in myopia	7
Congenital Myasthenic Syndrome associated with acetylcholine receptor deficiency: case report and review of the literature	6
Congenital corneal staphyloma in 8q21.11 microdeletion syndrome	6
Systematic study of ophthalmological findings in 10 patients with PEX1 -mediated Zellweger spectrum disorder	6
Ocular findings in pediatric turner syndrome	6
What have we learned about intraarterial chemotherapy (Ophthalmic Artery Chemosurgery) for retinoblastoma in the past 18 years? The third A. Linn Murphree Lecture	6
De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia	6
Longitudinal study in autosomal recessive PROM1 inherited retinal disease	5
The landscape of clinical trials research in inherited ophthalmic disease	5
Unilateral maculopathy associated with autosomal dominant bestrophinopathy	5
The Vascular Pattern In Vicinity Of Chorioretinal Coloboma: An Optical Coherence Tomography Angiography Study	5
Aberrant gene expression yet undiminished retinal ganglion cell genesis in iPSC-derived models of optic nerve hypoplasia	5
Novel LOXL3 -associated stickler syndrome-like phenotype: a case report	5
Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report	5
Novel heterozygous PRPH2 variant identified in a patient with spinocerebellar ataxia type 14 and macular dystrophy	5
A novel homozygous missense variant in POC1B causes cone dystrophy in a consanguineous Pakistani family	5
Are vitamin D receptor gene rs731236, rs2228570 and NOS3 gene rs3138808 polymorphisms associated with diabetic retinopathy?	5
Infantile esotropia in a family with TUBB3 mutation associated congenital fibrosis of extraocular muscles	5
MFRP variant results in nanophthalmos, retinitis pigmentosa, variability in foveal avascular zone	5
A novel NR2F1 -associated microdeletion underlying Bosch-Boonstra-Schaaf optic atrophy syndrome	5
Novel variant of KIF11 associated with MCLMR syndrome	5
The association of five polymorphisms with diabetic retinopathy in a Chinese population	5
Association between the rs1800624 and rs80096349 SNPs and diabetic retinopathy: a pilot study	4
Machine learning demonstrates clinical utility in distinguishing retinoblastoma from pseudo retinoblastoma with RetCam images	4
A novel deletion-insertion variant of RS1 in X-linked retinoschisis	4
Oculoplastic surgery, diagnosis, and other matters in Freeman–Burian syndrome	4
Paediatric retinal dystrophy associated with ATP1A3 in a child with a background of alternating hemiplegia of childhood	4
Haplotype-based association study of TCF7L2 gene variants with the development of diabetic retinopathy in an Iranian population	4
Anophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of life	4
PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature	4
Primary congenital glaucoma in two siblings with different compound heterozygous CYP1B1 genotypes	4
Genetic detection of a novel LRAT pathogenic variant in patients with early-onset severe retinal dystrophy	4
Biallelic occult macular dystrophy	4
Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism	4
Female carrier of RPGR mutation presenting with high myopia	4
WDR19 -associated retinopathy presenting with adult-onset Stargardt-like phenotype	4
Visual functions, ocular characteristics and visual quality of life in patients with homocystinuria	4
Phenotypic expansion of KCNJ13- associated snowflake vitreoretinal degeneration	4
Unusual fundus lesion in mosaic neurofibromatosis type 2	4
Exome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa	4
Ocular manifestations of trisomy 8 mosaicim: a rare case report	4
The ethnic disparity in the diagnostic yield of high-throughput next-generation sequencing in inherited retinal diseases: a systematic review and meta-analysis	3
Lack of genetic association of non-melanoma skin cancer and pseudoexfoliative glaucoma	3
Trio exome sequencing of an optic nerve hypoplasia cohort reveals evidence for polygenic architecture	3
Pathogenicity reclassification of the RPE65 c.1580A>G (p.His527Arg) - a case report	3
The validation of inherited retinal disease-specific patient-reported outcome measures in adolescent patients	3
Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of females	3
Novel compound heterozygous variants in SIX6 cause a PAX2 like Dysplastic Optic Disc with macular abnormalities without coexistent microph	3

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	3
Melphalan toxicity following treatment of retinoblastoma identified by pattern electroretinogram	3
A homozygous NRL variant (c.339C>G; p.Try113*) underlies enhanced-S-cone syndrome in the United Arab Emirates and is associated with an electronegativ	3
Ectopia lentis associated with a 20-base deletion in the ADAMTSL4 gene in the Old Order Amish population	3
Exploring copy number variations in Lebanese families with rod-cone dystrophy reveals a novel deletion in PRPF31 with haploinsufficiency	3
A proposal for an updated staging system for LCHADD retinopathy	3
A de novo splice-site variant in the retinitis pigmentosa 2 ( RP2	3
An unusual presentation of glaucoma in a neonate with Rubinstein-Taybi syndrome	3
Occult Macular Dystrophy: a case report and major review	3
Current clinical practice and needs assessment in inherited eye diseases from the perspective of ophthalmologists	3
Usher syndrome in the United Arab Emirates	3
Readability, Content, and Accountability Assessment of Online Health Information for Retinitis Pigmentosa & Retinitis Pigmentosa Treatment Options	3
Vascular and structural analyses of retinal and choroidal alterations in Fabry disease: the effect of hyperreflective foci and retinal vascular tortuosity	3
Evaluation of TGFB1 -509C>T polymorphism in primary open-angle glaucoma and primary angle-closure glaucoma in Turkish population	3
A family with Knobloch syndrome	3
Analysis of candidate variants in a Chinese family with monozygotic twins with keratoconus: a case report	3
The diagnostic value of ultra-widefield fundus imaging technology in early familial exudative vitreoretinopathy	3
An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population	3
Case of IFT140-associated Mainzer Saldino Syndrome	3
Bardet-Biedl syndrome with chorioretinal coloboma: a case series and review of literature	3
Genomic alterations in retinoblastoma tumors of Argentine patients	3
Is there a predisposition to uveitis in Turner syndrome?	3
Anisometropia and asymmetric ABCA4-related cone-rod dystrophy	3
Neuro-ophthalmic complications of endosteal hyperostosis, Worth type: the importance of ophthalmic monitoring	3
Novel retinal imaging findings in a pediatric patient with de novo ACTA2 R179H pathogenic variant	3
IDH3A -related retinal dystrophy with bilateral macular pseudocoloboma in a 2-month-old infant	3
Telemedicine-based approach to caring for patients with inherited retinal diseases: patient satisfaction and diagnostic testing completion rates	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
Identification of a novel CABP4 frameshift variant and a secondary USH2A missense variant in congenital co	3
Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1	3
Cone Rod Homeobox ( CRX ): literature review and new insights	3
Chromosome 6p amplification detected in blood cell-free DNA in advanced intraocular retinoblastoma	3
Seroreactivity against retinal proteins in a case of POC1B gene associated cone dystrophy with normal funduscopic appearance: a systematic approach to diagnosis	3
Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity	3
The phenotypic spectrum of syndromic optic atrophy associated with variants in WFS1 : with reclassification of p.Val606Gly as a likely benign variant	3
Motivations and expectations of parents seeking genetic testing for their children with ocular genetic disease	3
Detailed structural abnormalities associated with a novel VCAN variant in a family with versican vitreoretinopathy	3
Identification of AIRE pathogenic variants ends diagnostic odyssey for Saudi child with infantile-onset keratoconjunctivitis as an early sign of autoimmune polyglandular	3
PAX6 gene promoter methylation is correlated with myopia in Chinese adolescents: a pilot sutdy	3
PRPS1 -associated retinopathy: a diagnostic odyssey	3