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
X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort	12
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
Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development	11
ICAM-1 K469E gene polymorphism, genotype−phenotype correlation, and retinopathy in Type 2 diabetes mellitus patients	10
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
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

Association between vitamin D receptor polymorphisms and diabetic retinopathy in Uygur Chinese with type 2 diabetes	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
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
Are vitamin D receptor gene rs731236, rs2228570 and NOS3 gene rs3138808 polymorphisms associated with diabetic retinopathy?	5
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
Visual functions, ocular characteristics and visual quality of life in patients with homocystinuria	4
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
Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1	3
Genomic alterations in retinoblastoma tumors of Argentine patients	3
An unusual presentation of glaucoma in a neonate with Rubinstein-Taybi syndrome	3

Ectopia lentis associated with a 20-base deletion in the ADAMTSL4 gene in the Old Order Amish population	3
Current clinical practice and needs assessment in inherited eye diseases from the perspective of ophthalmologists	3
Anisometropia and asymmetric ABCA4-related cone-rod dystrophy	3
Telemedicine-based approach to caring for patients with inherited retinal diseases: patient satisfaction and diagnostic testing completion rates	3
Novel compound heterozygous variants in SIX6 cause a PAX2 like Dysplastic Optic Disc with macular abnormalities without coexistent microph	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
The phenotypic spectrum of syndromic optic atrophy associated with variants in WFS1 : with reclassification of p.Val606Gly as a likely benign variant	3
Pathogenicity reclassification of the RPE65 c.1580A>G (p.His527Arg) - a case report	3
Identification of AIRE pathogenic variants ends diagnostic odyssey for Saudi child with infantile-onset keratoconjunctivitis as an early sign of autoimmune polyglandular	3
Motivations and expectations of parents seeking genetic testing for their children with ocular genetic disease	3
A proposal for an updated staging system for LCHADD retinopathy	3
Exploring copy number variations in Lebanese families with rod-cone dystrophy reveals a novel deletion in PRPF31 with haploinsufficiency	3
Seroreactivity against retinal proteins in a case of POC1B gene associated cone dystrophy with normal funduscopic appearance: a systematic approach to diagnosis	3
PAX6 gene promoter methylation is correlated with myopia in Chinese adolescents: a pilot sutdy	3
Melphalan toxicity following treatment of retinoblastoma identified by pattern electroretinogram	3
Lack of genetic association of non-melanoma skin cancer and pseudoexfoliative glaucoma	3
Stem cell-based therapies for retinal diseases: focus on clinical trials and future prospects	3
Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of females	3
Association of NOD1, NOD2, PYDC1 and PYDC2 genes with Behcet’s disease susceptibility and clinical manifestations	3
Genotype and phenotype characteristics of X-linked retinoschisis: the first report of a Turkish population	3
Occult Macular Dystrophy: a case report and major review	3
Vascular and structural analyses of retinal and choroidal alterations in Fabry disease: the effect of hyperreflective foci and retinal vascular tortuosity	3
Detailed structural abnormalities associated with a novel VCAN variant in a family with versican vitreoretinopathy	3
Analysis of candidate variants in a Chinese family with monozygotic twins with keratoconus: a case report	3
Birt-Hogg-Dubé syndrome associated with chorioretinopathy and nyctalopia: a case report and review of the literature	3
A case of blepharophimosis: Freeman Sheldon syndrome	3
Case of IFT140-associated Mainzer Saldino Syndrome	3
Bardet-Biedl syndrome with chorioretinal coloboma: a case series and review of literature	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
Usher syndrome in the United Arab Emirates	3
Choroidal calcifications in two cases of aplasia cutis congenita and oculoectodermal syndrome	3
Phosphoribosyl pyrophosphate synthetase 1 ( PRPS1 ) associated retinal degeneration: an international study	3
PRPS1 -associated retinopathy: a diagnostic odyssey	3
Novel ferritin L-chain gene variant in a case of hereditary hyperferritinemia-cataract syndrome without family history	3
Is there a predisposition to uveitis in Turner syndrome?	3
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
Isolated juvenile macular dystrophy without posterior column ataxia associated with FLVCR1 mutation	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
Novel retinal finding in a patient with 4q12 deletion	2
Bilateral recurrent pseudodendritic keratopathy as the initial manifestation of tyrosinemia type II	2
A case of neurofibromatosis type 1 and unilateral glaucoma with ectropion uveae	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
Variant in EZR leads to defects in lens development	2
Eye and ocular adnexa manifestations of MED12-related disorders	2
Corneal involvement in a case of autosomal dominant Stargardt-like macular dystrophy (STGD3) with ELOVL4 mutation	2
Refractive errors, strabismus and ocular findings in children with different types of spinal muscular atrophy	2
Cone Rod Homeobox ( CRX ): literature review and new insights	2
Interleukin-1β-31 (rs1143627) genetic variant and the risk of age-related macular degeneration in the Brazilian population	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
Acute intraoperative subgaleal hematoma associated with vitreoretinal surgery in a patient with Ehlers-Danlos Syndrome Type VI	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
Clinical and molecular findings in patients with pattern dystrophy	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
RTN4IP1 -associated non-syndromic optic neuropathy and rod-cone dystrophy	2
Harboyan syndrome with biallelic SLC4A11 pathogenic variants misdiagnosed as congenital CMV infection	2
Ectopic vortex veins and varices in Donnai Barrow syndrome	2
Family and genetic counseling in Leber hereditary optic neuropathy	2
Familial exudative vitreoretinopathy with TGFBR2 mutation without signs of Loeys-Dietz syndrome	2
Variable expressivity of the autosomal dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a novel variant in BEST1	2
Macular atrophy and focal choroidal excavation in a patient with JAG1 - related alagille syndrome	2
Biochemical measures of ovarian function in female survivors of retinoblastoma treated with intra-arterial melphalan: an initial report	2
Hereditary motor and sensory neuropathy type VIA with optic nerve pallor in two sisters with pathologic myopia: a case series and review	2

Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis	2
Clinical and genetic study of a pseudo-dominant retinoschisis pedigree: the first female patient reported in Chinese population	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
Mesencephalic astrocyte-derived neurotrophic factor upregulates CHOP and ATF6 in the rat retina with retinitis pigmentosa	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
Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis	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
MERTK missense variants in three patients with retinitis pigmentosa	2
Band-shaped keratopathy in HNF4A -related Fanconi syndrome: a case report and review of the literature	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
Revisiting molecular diagnosis in a family with retinitis pigmentosa: integrating deep phenotyping and bioinformatic analysis	2
Evaluation of JUN, FN1 and LAMB1 polymorphisms in pterygium in a Chinese Han population	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
Neurofibromatosis type-2-related schwannomatosis presenting as peripapillary hamartoma: report on a novel NF2 mutation	2
GPR143 genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular albinism	2
A novel stop codon mutation of TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy	1
A novel frameshift variant inCEP78associated with nonsyndromic retinitis pigmentosa, and a review ofCEP78-related phenotypes	1
AAMR syndrome in a 22-month-old and literature review	1
Ophthalmic findings in Alström syndrome	1
Posterior microphthalmos with retinal involvement related to MFRP gene: a report of 10 Brazilian patients	1
Severe foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in COL2A1 gene	1
Atypical fundoscopic manifestation with good visual prognosis in familial hypomagnesemia with hypercalciuria and nephrocalcinosis	1
Idiopathic intracranial hypertension in a child with Bardet–Biedl syndrome	1
Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts	1
Mild retinitis pigmentosa, including sector retinitis pigmentosa associated with 2 pathogenic variants in CDH23	1
Bilateral plaque like macular atrophy and pigmentary retinopathy in an infant with a missense mutation in the MFF gene	1
ABCA4 variant screening in a Turkish cohort with Stargardt disease	1
Refractive errors in patients with Bardet Biedl syndrome	1
A case report of retinal dystrophy in patients with PACS1 syndrome	1
Ophthalmic manifestations of MEPAN syndrome	1
Lessons learned from research on choroideremia	1
Expanding the phenotype of mucopolysaccharidosis type II retinopathy	1
Association of RAGE rs1800624 and rs1800625 gene polymorphisms with predisposition to optic neuritis and optic neuritis together with multiple sclerosis	1
Identification of regulatory genes associated with POAG by integrating expression and sequencing data	1
Macular atrophy in JAG1-related Alagille syndrome: a case series	1
Concurrent PANK2 and OCA2 variants in a patient with retinal dystrophy, hypopigmented irides and neurodegeneration	1
Experiences of genetic testing among individuals with retinitis pigmentosa	1
The phenotypic spectrum of CEP250 gene variants	1
Consolidating data on the association of IL-6 and IL-10 polymorphisms with the development of glaucoma: a meta-analysis	1
Cell Free DNA (cfDNA) in the Blood of Retinoblastoma Patients The Robert M. Ellsworth Lecture	1
Novel MFSD8 mutation causing non-syndromic asymmetric adult-onset macular dystrophy	1
High myopia and vitreal veils in a patient with Poretti– Boltshauser syndrome due to a novel homozygous LAMA1 mutation	1
A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping	1
Retinal and optic nerve relapse in retinoblastoma secondary to epiretinal and epipapillary vitreous seeds implantation documented by optical coherence tomography	1
Modifiers and their impact on inherited retinal diseases: a review	1
Effects of duration and number of symptoms on vision-related anxiety in patients with Inherited Retinal Diseases	1
A novel frameshift variant in the GJA1 gene is associated with recessive oculodentodigital dysplasia	1
Severe retinal complications in Knobloch Syndrome - Three siblings without clinically apparent occipital defects and a review of the literature	1
Identification of novel genes by targeted exome sequencing in Retinoblastoma	1
A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome	1
MERTK retinopathy: biomarkers assessing vision loss	1
The role of motor proteins in photoreceptor protein transport and visual function	1
OTX2mutation associated with severe myopia in a Canadian family	1
Role of CFH Y402H and ARMS2 A69S polymorphisms in susceptibility to post rhegmatogenous retinal detachment macular complications	1
Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome	1
Confirmation of association of TGFBI p.Ser591Phe mutation with variant lattice corneal dystrophy	1
Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy	1
Typical best vitelliform dystrophy secondary to biallelic variants in BEST1	1
RPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India	1
Association between single nucleotide polymorphisms in exon 3 of the alpha-A-crystallin gene and susceptibility to age-related cataract	1
Absence of significant genetic alterations in the VSX1, SOD1, TIMP3, and LOX genes in Brazilian patients with Keratoconus	1
Initial diagnoses of patients found to be homozygous for a KCNV2 founder mutation on the Arabian Peninsula (c.427G>T; p.Glu143*)	1
A comparison of the ocular features in Pierson and Alport syndrome: a case report and literature review	1
Deletion of exon 4 of the PITX2 in a child with Axenfeld–Rieger syndrome	1
Concurrent novel mutations in PAX3 and CFAP410 in a patient with Waardenburg syndrome type 1 associated with Retinitis Pigmentosa	1
Osteopathia striata with cranial sclerosis causing a compressive optic neuropathy	1
Progeroid syndrome of De Barsy – a case report and review of ophthalmic literature	1
Novel CHRDL1 mutation causing X-linked megalocornea in a family with mild anterior segment manifestations in carrier females	1
Diagnostic yield of targeted next-generation sequencing in infantile nystagmus syndrome	1
Unraveling Hermansky–Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of DTNBP1 variants	1
The haplotype of the CDKN2B-AS1 gene is associated with primary open-angle glaucoma and pseudoexfoliation glaucoma in the Caucasian population of Central Russia	1
Harel Yoon syndrome: a novel mutation in ATAD3A gene and expansion of the clinical spectrum	1
Disease progression of retinitis pigmentosa caused by PRPF31 variants in a Nordic population: a retrospective study with up to 36 years follow-up	1
Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature	1
The influence of congenital corneal opacity on ERGs obtained using an abbreviated protocol	1
Corneal endothelial cell morphology in children with autosomal recessive Alport syndrome: a longitudinal study	1
Vitreous involvement as initial presentation of hereditary transthyretin amyloidosis related to the rare TTR Ile107Met (p.Ile127Met) pathogenic variant	1
Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome – A case report and review of literature	1
Case report: ocular manifestations of NFIX -associated Malan syndrome	1
The genetic spectrum and clinical features of X-linked juvenile retinoschisis in Central China	1
Prevalence of ocular anomalies is increased in women with polycystic ovary syndrome—exploration of association with PAX6 genotype	1
Understanding the propensity to undergo genetic testing in patients affected by inherited retinal diseases: a twelve-item questionnaire	1
Novel KMT2D pathogenic variant causing Kabuki Syndrome with associated macular abnormalities and retinopathy of prematurity	1
ROSAH syndrome presenting with recurrent vitreous hemorrhage: a multimodal imaging study	1