Research & Literature

Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.

Reis LM, Semina EV

Birth defects research. Part C, Embryo today : reviews 2015; (105(2)):96-113 doi:10.1002/bdrc.21097.

[Anophthalmia and microphthalmia requires multidisciplinary care. Many of the children also have other medical problems].

Jugård Y, Odersjö M, Topa A, et al.

Lakartidningen 2015; (112()).

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.

Chassaing N, Davis EE, McKnight KL, et al.

Genome research 2016; (26(4)):474-85 doi:10.1101/gr.196048.115.

Digital evaluation of orbital development after self-inflating hydrogel expansion in Chinese children with congenital microphthalmia.

Hou Z, Xian J, Chang Q, et al.

Journal of plastic, reconstructive & aesthetic surgery : JPRAS 2016; (69(5)):706-14.

[Custom-made artificial parts for improving functional and cosmetic results of ocular prosthetics].

Verigo EN, Filatova IA, Sadovskaya EP, Pryakhina IA

Vestnik oftalmologii 2015; (131(6)):43-50 doi:10.17116/oftalma2015131643-50.

Analysis on sports and recreation activity-related eye injuries presenting to the Emergency Department.

Moon S, Ryoo HW, Ahn JY, et al.

International journal of ophthalmology 2016; (9(10)):1499-1505 doi:10.18240/ijo.2016.10.22.

Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2.

Somashekar PH, Shukla A, Girisha KM

Ophthalmic genetics 2017; (38(6)):533-536 doi:10.1080/13816810.2017.1301967.

Expander Eye Prosthesis Assisting Ocular Rehabilitation in Child with Eye Loss.

Dos Santos DM, Andreotti AM, Iyda BG, et al.

Journal of clinical and diagnostic research : JCDR 2017; (11(8)):ZD06-ZD08 doi:10.7860/JCDR/2017/26859.10511.

An Eye Organoid Approach Identifies Six3 Suppression of R-spondin 2 as a Critical Step in Mouse Neuroretina Differentiation.

Takata N, Abbey D, Fiore L, et al.

Cell reports 2017; (21(6)):1534-1549 doi:10.1016/j.celrep.2017.10.041.

Genes and pathways in optic fissure closure.

Patel A, Sowden JC

Seminars in cell & developmental biology 2019; (91()):55-65 doi:10.1016/j.semcdb.2017.10.010.

Functional vision and quality of life in children with microphthalmia/anophthalmia/coloboma-a cross-sectional study.

Dahlmann-Noor A, Tailor V, Abou-Rayyah Y, et al.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2018; (22(4)):281-285.e1 doi:10.1016/j.jaapos.2018.01.015.

Epidemiology of anophthalmia and microphthalmia: Prevalence and patterns in Texas, 1999-2009.

Chambers TM, Agopian AJ, Lewis RA, et al.

American journal of medical genetics. Part A 2018; (176(9)):1810-1818 doi:10.1002/ajmg.a.40352.

New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review.

Pichiecchio A, Vitale G, Caporali C, et al.

BMC medical genomics 2018; (11(1)):87 doi:10.1186/s12920-018-0405-3.

Management of Congenital Clinical Anophthalmos with Orbital Cyst: A Kinshasa Case Report.

Stahnke T, Erbersdobler A, Knappe S, et al.

Case reports in ophthalmological medicine 2018; (2018()):5010915 doi:10.1155/2018/5010915.

[Rehabilitation of Anophthalmic Patients with Prosthetic Eyes in Germany Today - Supply Possibilities, Daily Use, Complications and Psychological Aspects].

Rokohl AC, Mor JM, Trester M, et al.

Klinische Monatsblatter fur Augenheilkunde 2019; (236(1)):54-62 doi:10.1055/a-0764-4974.

[Clinical and Genetic Characteristics of Ocular Developmental Disorders: MAC-Spectrum, Anterior Segment Dysgenesis].

Käsmann-Kellner B, Moslemani K, Seitz B

Klinische Monatsblatter fur Augenheilkunde 2019; (236(3)):269-285 doi:10.1055/a-0809-5523.

Lacrimal drainage system anomalies in microphthalmia anophthalmia coloboma complex.

Nayak A, Dave TV, Ali MJ, Tiwari A

Orbit (Amsterdam, Netherlands) 2020; (39(3)):155-159 doi:10.1080/01676830.2019.1634105.

Identification of a possible association of JAK2 in development of microphthalmia, anophthalmia, and coloboma (MAC) complex in a child with 9p deletion and duplication.

Leung KCP, Ko TCS

Ophthalmic genetics 2020; (41(4)):373-376 doi:10.1080/13816810.2020.1776338.

Distinguishing risk factors between congenital anophthalmia and microphthalmia using multivariable logistic regression.

Li Y, Hou Z, Ding J, et al.

Annals of translational medicine 2020; (8(11)):704 doi:10.21037/atm.2019.12.103.

Anxiety and depression in patients wearing prosthetic eyes.

Heindl LM, Trester M, Guo Y, et al.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2021; (259(2)):495-503 doi:10.1007/s00417-020-04908-0.

A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.

Zlotina A, Melnik O, Fomicheva Y, et al.

BMC medical genomics 2020; (13(1)):175 doi:10.1186/s12920-020-00821-x.

Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.

Ricci G, Mele F, Govi M, et al.

Scientific reports 2020; (10(1)):21648 doi:10.1038/s41598-020-78578-7.

Epidemiology and risk factors for sports- and recreation-related eye injury: a multicenter prospective observational study.

Lee DE, Ryoo HW, Moon S, et al.

International journal of ophthalmology 2021; (14(1)):133-140 doi:10.18240/ijo.2021.01.19.

Eye Conformers as Socket Expanders in Children: Experience at a Tertiary Eye Hospital in Central Saudi Arabia.

Changal N, Khandekar RB

Cureus 2021; (13(2)):e13465 doi:10.7759/cureus.13465.

The Role of Parent/Caregiver with Children Affected by Rare Diseases: Navigating between Love and Fear.

Gómez-Zúñiga B, Pulido R, Pousada M, Armayones M

International journal of environmental research and public health 2021; (18(7)) doi:10.3390/ijerph18073724.

Floorball Injuries Presenting to a Swiss Adult Emergency Department: A Retrospective Study (2013-2019).

Radtke S, Trepp GL, Müller M, et al.

International journal of environmental research and public health 2021; (18(12)) doi:10.3390/ijerph18126208.

Outcomes of the use of orbital hydrogel expanders in the management of congenital anophthalmia: CT-based orbital parameter analysis.

Alanazi RR, Schellini SA, Alhussain H, et al.

Orbit (Amsterdam, Netherlands) 2022; (41(6)):691-699 doi:10.1080/01676830.2021.1990350.

Identification of a novel de novo variant in OTX2 in a patient with congenital microphthalmia using targeted next-generation sequencing followed by prenatal diagnosis.

Rafati M, Mohamadhashem F, Jalilian K, et al.

Ophthalmic genetics 2022; (43(2)):262-267 doi:10.1080/13816810.2021.2002915.

Quality of life and mental health of children with rare congenital surgical diseases and their parents during the COVID-19 pandemic.

Fuerboeter M, Boettcher J, Barkmann C, et al.

Orphanet journal of rare diseases 2021; (16(1)):498 doi:10.1186/s13023-021-02129-0.

The Management of Congenital Microphthalmia With Orbital Cyst: A Case Series.

Gutkovich E, Zahavi A, Man Peles I, et al.

Journal of pediatric ophthalmology and strabismus 2022; (59(3)):192-199 doi:10.3928/01913913-20210929-01.

Management of post enucleation socket syndrome patients - A retrospective study.

Calluaud G, Amelot A, Kulker D, et al.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery 2022; (50(2)):163-169 doi:10.1016/j.jcms.2021.12.007.

Long-read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia.

Boerkoel PK, Dixon K, Fitzsimons C, et al.

American journal of medical genetics. Part A 2022; (188(5)):1589-1594 doi:10.1002/ajmg.a.62676.

Loss of zebrafish dzip1 results in inappropriate recruitment of periocular mesenchyme to the optic fissure and ocular coloboma.

Nandamuri SP, Lusk S, Kwan KM

PloS one 2022; (17(3)):e0265327 doi:10.1371/journal.pone.0265327.

Cell fate decisions, transcription factors and signaling during early retinal development.

Diacou R, Nandigrami P, Fiser A, et al.

Progress in retinal and eye research 2022; (91()):101093 doi:10.1016/j.preteyeres.2022.101093.

Eyes on CHARGE syndrome: Roles of CHD7 in ocular development.

Krueger LA, Morris AC

Frontiers in cell and developmental biology 2022; (10()):994412 doi:10.3389/fcell.2022.994412.

Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma.

Harding P, Gore S, Malka S, et al.

The British journal of ophthalmology 2023; (107(12)):1925-1935 doi:10.1136/bjo-2022-321991.

Socket expansion with conformers in congenital anophthalmia and microphthalmia.

Watanabe A, Singh S, Selva D, et al.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2022; (26(6)):318.e1-318.e6 doi:10.1016/j.jaapos.2022.08.523.

Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye.

Chesneau B, Ivashchenko V, Habib C, et al.

European journal of human genetics : EJHG 2023; (31(5)):526-530 doi:10.1038/s41431-022-01234-3.

Abnormalities of the contralateral eye in unilateral congenital anophthalmic or blind microphthalmic patients.

Ma L, Li Y, Zhang H, et al.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2023; (27(1)):34.e1-34.e4 doi:10.1016/j.jaapos.2022.11.011.

Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms.

Cassin J, Stamou MI, Keefe KW, et al.

JCI insight 2023; (8(3)).

[Ocular prosthetics in children-Possibilities and challenges].

Schittkowski MP, Weiss N

Die Ophthalmologie 2023; (120(2)):139-149 doi:10.1007/s00347-022-01794-1.

An alternative technique by using digital photography and UV printing for fabricating a custom made ocular prosthesis.

Kocacikli M

The International journal of artificial organs 2023; (46(3)):135-140 doi:10.1177/03913988231151447.

Optic cup morphogenesis across species and related inborn human eye defects.

Cardozo MJ, Sánchez-Bustamante E, Bovolenta P

Development (Cambridge, England) 2023; (150(2)) doi:10.1242/dev.200399.

Rehabilitation of pediatric retinoblastoma patients with ocular prostheses and their subsequent modifications: A 15-year retrospective study.

Legg LR, Ahmed ZU, Solano AK, et al.

Journal of prosthodontics : official journal of the American College of Prosthodontists 2024; (33(1)):12-17 doi:10.1111/jopr.13681.

A Systematic Review on the Effectiveness of Eyewear in Reducing the Incidence and Severity of Eye Injuries in Racket Sports.

Mazarelo JFD, Winter SL, Fong DTP

The Physician and sportsmedicine 2024; (52(2)):115-124 doi:10.1080/00913847.2023.2196934.

Quantifying the efficacy of protective eyewear in pediatric soccer-induced retinal injury.

Suh A, Lam M, Shokrollahi Y, et al.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2023; (27(3)):131.e1-131.e6 doi:10.1016/j.jaapos.2023.02.009.

Challenges faced by nurses engaged in rheumatology care in Japan.

Fusama M, Nakahara H, Gregg M, et al.

Modern rheumatology 2024; (34(4)):711-719 doi:10.1093/mr/road079.

Clinical, genetic and biochemical signatures of RBP4-related ocular malformations.

Plaisancié J, Martinovic J, Chesneau B, et al.

Journal of medical genetics 2023; (61(1)):84-92 doi:10.1136/jmg-2023-109331.

Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.

Akbar W, Ullah A, Haider N, et al.

The journal of gene medicine 2024; (26(1)):e3601 doi:10.1002/jgm.3601.

Multimodal prenatal and postnatal imaging of microphthalmia with cyst.

Kolosky T, Uddin O, Panchal B, et al.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2023; (27(6)):369-372 doi:10.1016/j.jaapos.2023.08.007.

Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum.

Atique Tacla M, de Mello Copelli M, Pairet E, et al.

European journal of human genetics : EJHG 2024; (32(10)):1257-1266 doi:10.1038/s41431-023-01488-5.

Associated anomalies in anophthalmia and microphthalmia.

Stoll C, Dott B, Alembik Y, Roth MP

European journal of medical genetics 2024; (67()):104892 doi:10.1016/j.ejmg.2023.104892.

Automatic data-driven design and 3D printing of custom ocular prostheses.

Reinhard J, Urban P, Bell S, et al.

Nature communications 2024; (15(1)):1360 doi:10.1038/s41467-024-45345-5.

Long term follow-up of axial length and orbital dimensions in congenital microphthalmia and anophthalmia.

Groot ALW, de Graaf P, Remmers JS, et al.

Acta ophthalmologica 2024; (102(6)):e935-e945 doi:10.1111/aos.16674.

Challenges nurses face in providing care for patients with juvenile idiopathic arthritis.

Fusama M, Nakahara H, Miyamae T, et al.

Modern rheumatology 2024; (35(1)):185-193 doi:10.1093/mr/roae041.

Reviving Vision: A Case Report of Prosthetic Eye Restoration.

Minase DA, Sathe S, Borle A, et al.

Cureus 2024; (16(4)):e58811 doi:10.7759/cureus.58811.

Challenges nurses face in providing care to older patients with rheumatoid arthritis: A qualitative study.

Fusama M, Nakahara H, Urata Y, et al.

Modern rheumatology 2025; (35(2)):256-264 doi:10.1093/mr/roae087.

Loss of Cdc42 causes abnormal optic cup morphogenesis and microphthalmia in mouse.

Hofstetter KS, Haas PM, Kuntz JP, et al.

bioRxiv : the preprint server for biology 2024; doi:10.1101/2024.10.20.619331.

Eye Mapping: Innovative Technique for Precise Iris Positioning in Prosthetic Eye.

Zilpilwar NR, Nimonkar SV, Chitlange P, et al.

The journal of contemporary dental practice 2024; (25(7)):711-714 doi:10.5005/jp-journals-10024-3715.

Fibrin-glue-assisted retinopexy for coloboma-associated retinal detachment.

Jain KS, Upadhyaya A, Raval VR

Indian journal of ophthalmology 2024; (72(12)):1840 doi:10.4103/IJO.IJO_972_24.

A Novel De Novo Missense Variant in Netrin-1 (NTN1) Associated With Chorioretinal Coloboma, Sensorineural Hearing Loss and Polydactyly.

Toms M, Heppell C, Owen N, et al.

Clinical genetics 2025; (107(3)):292-299 doi:10.1111/cge.14651.

A Practical Multidisciplinary Approach to Identifying Interstitial Lung Disease in Systemic Autoimmune Rheumatic Diseases: A Clinician's Narrative Review.

Biciusca V, Rosu A, Stan SI, et al.

Diagnostics (Basel, Switzerland) 2024; (14(23)) doi:10.3390/diagnostics14232674.

Congenital conjunctival cyst detected by prenatal ultrasound.

Gabbard R, Harrison H, Chang K, et al.

American journal of ophthalmology case reports 2025; (37()):102230 doi:10.1016/j.ajoc.2024.102230.

Prosthetic eye care - The current state of the art.

Rokohl AC, Pine KR, Pine NS, et al.

Progress in retinal and eye research 2025; (105()):101337 doi:10.1016/j.preteyeres.2025.101337.

Management of anophthalmia, microphthalmia and coloboma in the newborn, shared care between neonatologist and ophthalmologist: a literature review.

Russo M, Palmeri S, Zucconi A, et al.

Italian journal of pediatrics 2025; (51(1)):65 doi:10.1186/s13052-025-01882-3.

Fabrication of Custom Eye Prosthesis for a 5-year-old with an Eviscerated Eye: A Case Report.

Netalkar PP, Grover R, Shetty R, et al.

International journal of clinical pediatric dentistry 2025; (18(3)):305-307 doi:10.5005/jp-journals-10005-3079.

The utility of next generation sequencing targeted multigene panels in the Adult Neurogenetic Clinic at Tygerberg Hospital, South Africa.

Van Tonder C, Schoeman M, Carr J, et al.

European journal of human genetics : EJHG 2025; (33(9)):1144-1152 doi:10.1038/s41431-025-01900-2.

Assessing Psychological Harms on Parents and Primary Caregivers of Children Living with a Rare Disease: A Systematic Review of the Scope and Validity of Surveys Utilized.

Bull LJ, Eslick GD, Teutsch SM, Elliott EJ

Clinical child and family psychology review 2025; (28(3)):612-630 doi:10.1007/s10567-025-00533-7.

Retinoic Acid-Regulated Epigenetic Marks Identify Alx1 as a Direct Target Gene Required for Optic Cup Formation.

Berenguer M, Duester G

Genes 2025; (16(9)) doi:10.3390/genes16091071.

Next-Generation Sequencing in Congenital Eye Malformations: Identification of Genetic Causes and Comparison of Different Panel-Based Diagnostic Strategies.

Neuhann L, Laner A, Holinski-Feder E, Neuhann T

International journal of molecular sciences 2025; (26(20)) doi:10.3390/ijms26209854.

The Developmental Landscape of Children With Uveal Coloboma and Its Relationship With Clinical Phenotype and Genetics.

Brooks BP, Hehn AT, Blain D, et al.

American journal of ophthalmology 2026; (282()):345-357 doi:10.1016/j.ajo.2025.11.011.

Analysis of OTX2, PAX6, and SOX2 Gene and Protein Expression Patterns in Ocular Development of Human and Rat Embryos.

Junga A, Pilmane M, Fedirko P

International journal of molecular sciences 2025; (26(22)) doi:10.3390/ijms262210845.

Hazards of Malaysia's Favorite Sport: A Case Series of Badminton-Related Ocular Injuries at a Single Tertiary Center.

Mat Nawi FN, Bastion MC

Cureus 2026; (18(1)):e101594 doi:10.7759/cureus.101594.

Lacrimal drainage system involvement in CHARGE syndrome: a two-case report.

Alnuman R, Alhumaid F, Diab MM

Orbit (Amsterdam, Netherlands) 2026; (45(3)):456-460 doi:10.1080/01676830.2026.2632699.