Abnormal development of these structures causes the signs and symptoms of SOX2 anophthalmia syndrome. They often arise in conjunction with other ocular defects such as coloboma and orbital cyst. These early intervention services will help babies learn to walk, talk and interact with others. contact: ude.wu@tssamda. chromosome locus from
SOX2 anophthalmia syndrome - PubMed Seizures were observed in 22 individuals. Polyadenylation signal variants are assoc w/familial anophthalmia. The absence of the eye will cause a small bony orbit, a constricted mucosal socket, short eyelids, reduced palpebral fissure the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. In the 174 individuals reported (114 individuals reviewed by Williamson & FitzPatrick [2014] plus 60 individuals reported subsequently), 76 (44%) had bilateral anophthalmia, 23 (13%) had anophthalmia with contralateral microphthalmia, and 20 (12%) had bilateral microphthalmia. W/attention to brain/pituitary malformations, optic nerve/chiasm/tract. The phenotypic spectrum of SOX2 disorder includes anophthalmia and/or microphthalmia, brain malformations, developmental delay/ intellectual disability, esophageal atresia, hypogonadotropic hypogonadism (manifest as cryptorchidism and micropenis in males, gonadal dysgenesis infrequently in females, and delayed puberty in both sexes), pituitary hypoplasia, postnatal growth delay, hypotonia, seizures, and spastic or dystonic movements. Each of the hypothetic explanations for the embryonic origin of the small or missing eyes associated with SOX2 pathogenic variants predicts a different spectrum of clinical phenotypes. Tests that can diagnose microphthalmia and anophthalmia before birth include: Healthcare providers arent able to provide a new eye for people born with these conditions. Anophthalmia-esophageal atresia-genital abnormalities (AEG) syndrome was previously reported to be a distinct disorder, but is now known to be associated in some individuals with heterozygous pathogenic loss-of-function variants in SOX2 [Williamson et al 2006, Zenteno et al 2006]; thus, it appears that esophageal atresia with or without tracheoesophageal fistula is a feature of SOX2 disorder and not a separate condition. The lung originates from the ventral foregut and develops into an intricate branched structure of airways, alveoli, vessels and support tissue. They also help with socket and face development and can help with cosmetic concerns. usta tennis court construction specifications / why is rebecca lowe hosting olympics / sox2 anophthalmia syndrome life expectancy. sox2 anophthalmia syndrome life expectancy. If lens induction is impaired, the predicted clinical spectrum would be congenital cataract > microphthalmia > anophthalmia. anophthalmia-esophageal-genital (AEG) syndrome. De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations. Seattle (WA): University of Washington, Seattle; 1993-2023. The SOX2 protein regulates the activity of other genes, especially those that are important for normal development of the eyes. For information on selection criteria, click here. 2008 Nov 1;146A(21):2794-8. doi:
About: SOX2 anophthalmia syndrome - North Carolina State University Chromosomal microarray analysis (CMA) uses oligonucleotide or SNP arrays to detect genome-wide large deletions/duplications (including SOX2) that cannot be detected by sequence analysis. football players born in milton keynes; ups aircraft mechanic test. Schneider A, Bardakjian T, Reis LM, Tyler RC, Semina EV. Guichet A, Triau S, Lepinard C, Esculapavit C, Biquard F, Descamps P, Encha-Razavi F, Bonneau D. Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2. Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. We do not endorse non-Cleveland Clinic products or services. Coming to a Cleveland Clinic location?Hillcrest Cancer Center check-in changesCole Eye entrance closingVisitation, mask requirements and COVID-19 information, Notice of Intelligent Business Solutions data eventLearn more, Microphthalmia and anophthalmia are both congenital conditions that affect the eyes. Thalidomide treats cancer and some skin conditions. Being exposed to chemicals, like drugs or pesticides, during pregnancy.
SOX2 anophthalmia syndrome University of Edinburgh Research Explorer The risk to the sibs of the proband depends on the genetic status of the proband's parents: Other family members. organizations. Gene-targeted deletion/duplication testing will detect deletions ranging from a single exon to a whole gene; however, breakpoints of large deletions and/or deletion of adjacent genes (e.g., those described by Suzuki et al [2014]) may not be detected by these methods [Chassaing et al 2014]. GeneReviews staff has selected the following disease-specific and/or umbrella Microphthalmia means that one eye or both eyes dont develop fully so they are small and disorganized. Molecular Genetic Testing Used in SOX2 Disorder. Direct reprogramming with SOX factors: masters of cell fate. Almost all SOX2 pathogenic variants reported to date appear to represent heterozygous loss of function; thus, it is difficult to draw genotype-phenotype correlations. distributors, and/or translators comply with the GeneReviews Copyright Notice and Usage Br J Ophthalmol. Bilateral anophthalmia and/or microphthalmia, Unilateral anophthalmia or microphthalmia, Genital abnormalities. Pilz RA, Korenke GC, Steeb R, Strom TM, Felbor U, Rath M. Exome sequencing identifies a recurrent SOX2 deletion in a patient with gait ataxia and dystonia lacking major ocular malformations. Dystonia and spasticity.
Anophthalmos Differential Diagnoses - Medscape SOX2 anophthalmia syndrome: 12 new cases For information on nonmedical interventions and coping strategies for children diagnosed with epilepsy, see Epilepsy Foundation Toolbox. Cleveland Clinic is a non-profit academic medical center. For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click GeneReviews(R) [Internet]. Inheritance was observed as de novo constitutive or de novo mosaic events, or, less frequently, from parents with constitutional duplications (see DECIPHER). Ages 0-3 years. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Orphanet J Rare True or primary anophthalmia is incompatible with life . If you have it, your cornea doesnt reach 10 mm in diameter even when youre an adult. How do you know if your baby has anophthalmia or microphthalmia? GeneReviews staff have not independently verified the classification of variants. information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them
Microphthalmia & Anophthalmia: Types, Symptoms & Treatment An oculoplastic surgeon is a surgeon who has special training with the eyes, the eye sockets and the bones that make them up. Zhou J, Kherani F, Bardakjian TM, Katowitz J, Hughes N, Schimmenti LA, SOX2 eye defects are usually bilateral, severe, and apparent at birth or on routine prenatal ultrasound examination. AD = autosomal dominant; AR = autosomal recessive; DD = developmental delay; ID = intellectual disability; MCOPS5 = microphthalmia, syndromic 5; MOI = mode of inheritance; XL = X-linked, Reis et al [2011]; Author, unpublished data, Deml et al [2016], Williamson et al [2020], ADL = activities of daily living; DD = developmental delay; ID = intellectual disability; MOI = mode of inheritance; OT = occupational therapy/therapist; PT = physical therapy/therapist, Medical geneticist, certified genetic counselor, or certified advanced genetic nurse, ASM = anti-seizure medication; DD = developmental delay; ID = intellectual disability; OT = occupational therapy; PT = physical therapy. SOX2 encodes the transcription factor SOX2 (317 amino acids) which has an HMG DNA-binding domain (amino acids 40-111), a partner-binding region, and a C-terminal transactivation region. American Academy of Ophthalmology. Suzuki J, Azuma N, Dateki S, Soneda S, Muroya K, Yamamoto Y, Saito R, Sano S, Nagai T, Wada H, Endo A, Urakami T, Ogata T, Fukami M. Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities. Permission is Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. A minority of affected individuals develop early continual dystonic posturing that is similar to that seen in dystonic cerebral palsy but without evidence of basal ganglia injury on neuroimaging.
Epub 2008 Nov Both conditions are rare, and can cause vision loss or blindness. Congenital anophthalmia is a developmental disorder in which the eye does not develop or is underdeveloped. Facts about Anophthalmia and Microphthalmia. It has been called also the SOX 2 anophthalmia syndrome 3 due to the frequent mutations and/or deletions found in the SOX2 gene. Approximately 60% of affected individuals have a de novo genetic alteration. SOX2 plays a critical role
A 504 plan (Section 504: a US federal statute that prohibits discrimination based on disability) can be considered for those who require accommodations or modifications such as front-of-class seating, assistive technology devices, classroom scribes, extra time between classes, modified assignments, and enlarged text. SOX2 anophthalmia syndrome is estimated to affect 1 in 250,000 individuals. The Human Phenotype Ontology (HPO) enables use of precise, standardized, computationally accessible terms to describe phenotypic abnormalities. OMIM Entries for SOX2 Disorder (View All in OMIM). driver refresher course for seniors; vawa cases approved 2022 immihelp;
SOX2 anophthalmia syndrome - North Carolina State University (https://www.cdc.gov/ncbddd/birthdefects/anophthalmia-microphthalmia.html#:~:text=Microphthalmia%20is%20a%20birth%20defect,fully%2C%20so%20they%20are%20small.
The Verge - klgzp.lesthetiquecusago.it Certain defects such as those of the heart, palate and esophagus can be surgically repaired.
Anophthalmia and microphthalmia | March of Dimes The most common findings in affected individuals are anophthalmia (absence of one or both eyes) or severe microphthalmia (abnormally small eyes), and cleft lip and/or cleft palate. The incidence of parental germline mosaicism in, The family history of some individuals diagnosed with, If a parent is affected and/or has the genetic alteration identified in the proband, the risk to the sibs of inheriting the genetic alteration is 50%. University of Edinburgh SOX2 is a single exon transcription factor previously associated with anophthalmia [ 18, 19 ], microphthalmia [ 20 ], and coloboma [ 21 ]. NAA10 polyadenylation signal variants cause syndromic microphthalmia. Glasses or contacts. The diagnosis of SOX2 disorder is established in a proband in whom molecular genetic testing identifies either a heterozygous intragenic SOX2 pathogenic (or likely pathogenic) variant or a deletion of 3q26.33 involving SOX2. Isotretinoin treats acne. Kelberman D, de Castro SC, Huang S, Crolla JA, Palmer R, Gregory JW, Taylor D, Unilateral microphthalmia is the term for when the condition affects only one eye. The medical team may not be aware of the multiple ways that a rare disease can change the quality of life of the patient and family. Heterozygous, de novo, loss-of-function mutations in SOX2 have been shown to cause bilateral anophthalmia.
SOX2 anophthalmia syndrome: 12 new cases demonstrating broader Gorman KM, Lynch SA, Schneider A, Grange DK, Williamson KA, FitzPatrick DR, King MD. Mutations in the SOX2 gene prevent the production of functional SOX2 protein.
sox2 anophthalmia syndrome life expectancy Dystonia may worsen & can show acute change to status dystonicus, which should be considered a medical emergency. See Quick Reference for an explanation of nomenclature. SOX2 disorder should be considered in individuals with the following clinical and brain MRI findings and family history. In females, malformations are less frequent and can include hypoplastic or hemi-uterus, ovary or vaginal agenesis, and vaginal adhesions [Errichiello et al 2018]. Ayuso C, Allen L, Collin JR, Ragge NK. As a child enters the teen years, a transition plan should be discussed and incorporated in the IEP. Fetal MRI.
PDF Case Report Two Cases of Anophthalmia and Quality Of Life The SOX2 phenotypes include a patient with anophthalmia, oesophageal abnormalities and horseshoe kidney, and a patient with a retinal dystrophy implicating SOX2 in retinal development. Pavone P, Cho SY, Pratic AD, Falsaperla R, Ruggieri M, Jin DK. There are other things that may be factors in these eye conditions, including: In a newborn child, your provider can diagnose anophthalmia and microphthalmia through an examination. SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. GARD: 19 Anophthalmia plus syndrome (APS) is a very rare syndrome that involves malformations in multiple organs of the body. Centers for Disease Control and Prevention. To establish the extent of disease and needs in an individual diagnosed with SOX2 disorder, the evaluations summarized in Table 4 (if not performed as part of the evaluation that led to diagnosis) are recommended. com. Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, van Heyningen V, FitzPatrick DR. Mutations in SOX2 cause anophthalmia. Epub 2006 Mar 16. You may hear some people say that anophthalmia and microphthalmia are examples of eye birth defects.. The most common genetic cause for anophthalmia is mutated SOX2gene. sox2 anophthalmia syndrome life expectancy Isgho Votre ducation notre priorit
sox2 anophthalmia syndrome life expectancy For clarity, excerpts The following information represents typical management recommendations for individuals with developmental delay/ intellectual disability in the United States; standard recommendations may vary from country to country. genetic conditions. See Table A. In 1960, on average, persons with Down syndrome lived to be about 10 years old.
silobration vendor application 2022 An ocularist is a provider who can make prosthetic devices like artificial eyes and conformers. Male A, Davies A, Bergbaum A, Keeling J, FitzPatrick D, Mackie Ogilvie C, Berg J. Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region. Introduction.
Anopthalmia/microphthlamia-esophageal atresia association with - Nature A practical guide to the management of anophthalmia and - Nature Mutations in the SOX2 gene cause SOX2 syndrome and is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is . Infancy, mid-childhood, then every 3-6 mos from age 8 yrs, Every 3-6 mos during childhood or w/any progression of symptoms or signs, or deteriorating function, Most common pathogenic variant; accounts for ~20% of all pathogenic variants [, Recurrent familial variant assoc w/broad range of ocular phenotypes [. Bean LJH, Gripp KW, Amemiya A, editors. Sporadic and familial congenital cataracts: mutational spectrum and new diagnoses using next-generation sequencing. (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133583/), Visitation, mask requirements and COVID-19 information, Coloboma: A coloboma means that tissue is missing in the eye.
Anophthalmia (Concept Id: C0003119) - National Center for Biotechnology CMA designs in current clinical use target the 3q26.33 region. The absence of this protein disrupts the activity of genes that are essential for the development of the eyes and other parts of the body. How are genetic conditions treated or managed? Reference to "pathogenic variants" in this section is understood to include any likely pathogenic variants.
sox2 anophthalmia syndrome life expectancy - Mistero-milano.it For example, even in extreme microphthalmia, functional retinal tissue can give some light/dark perception with or without color perception. The ontology structure describes the relationship of terms to each other [Khler et al 2019].
SOX2 Disorder - GeneReviews - NCBI Bookshelf This is consistent with the known expression of SOX2 in the endoderm and genital ridge during development of chick and mouse embryos. In two of these, FISH studies identified sub-microscopic deletions involving a minimum of 328 Kb and 550 Kb. See Molecular Genetics for information on variants detected in this gene. Most cases result from new mutations in the SOX2 gene and occur in people with no history of the disorder in their family. Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma. SOX2 disorder, caused by an intragenic SOX2 pathogenic variant or a deletion of 3q26.33 involving SOX2, is an autosomal dominant disorder. People can be born with one or two small eyes (microphthalmia) or without one or both eyes (anophthalmia). Microphthalmia is when one or both of a baby's eyes are small. An AAC evaluation can be completed by a speech-language pathologist who has expertise in the area. [updated 2020 Jul 30]. Ted has Sox2 anophthalmia syndrome, caused by an unbalanced translocation of Chromosomes 3 and 14 and a microdeletion of Chromosome 3. Posted on June 29, 2022 It is also possible that complete failure of optic vesicle formation results in anophthalmia without optic nerve formation. SOX2 is expressed in mouse embryonic stem cells and has been shown to act as part of a transcriptional activator complex for several important developmental genes including other genes known to be critical to eye development (e.g., PAX6 and MAF1). Your provider may suggest genetic testing before you get pregnant after discussing your medical history and your family history. Faivre L, Williamson KA, Faber V, Laurent N, Grimaldi M, Thauvin-Robinet C, Durand C, Mugneret F, Gouyon JB, Bron A, Huet F, Hayward C. Heyningen Vv, Fitzpatrick DR. Eligibility differs by state but is typically determined by diagnosis and/or associated cognitive/adaptive disabilities. Intellectual ability is highly variable, ranging from normal to profound learning disability, with the majority having moderate learning disability. Brain MRI. Approximately 2/3 of all cases of anophthalmia are determined to be of genetic basis. Your provider will be able to tell if your baby has microphthalmia or anophthalmia by looking carefully during a physical examination and doing an eye exam. Measurement of weight, length/height, & head circumference, Complete ophthalmologic exam by experienced pediatric ophthalmologist, Males: Assessment for micropenis &/or cryptorchidism. Mihelec M, Abraham P, Gibson K, Krowka R, Susman R, Storen R, Chen Y, Donald J, Tam PP, Grigg JR, Flaherty M, Gole GA, Jamieson RV. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. sox2 anophthalmia syndrome life expectancy religious interview questions and answers sharleen spiteri ashley heath . Chassaing N, Gilbert-Dussardier B, Nicot F, Fermeaux V, Encha-Razavi F, Fiorenza M, Toutain A, Calvas P. Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement. Assess axial & peripheral tone to advise on likely efficacy of antispasmodic medications & procedures. Br J Chassaing N, Causse A, Vigouroux A, Delahaye A, Alessandri JL, Boespflug-Tanguy O, Boute-Benejean O, Dollfus H, Duban-Bedu B, Gilbert-Dussardier B, Giuliano F, Gonzales M, Holder-Espinasse M, Isidor B, Jacquemont ML, Lacombe D, Martin-Coignard D, Mathieu-Dramard M, Odent S, Picone O, Pinson L, Quelin C, Sigaudy S, Toutain A, Thauvin-Robinet C, Kaplan J, Calvas P. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 3 bedroom houses for rent in fort myers. Recommended Surveillance for Individuals with SOX2 Disorder. U.S. Department of Health and Human Services. Ceroni F, Aguilera-Garcia D, Chassaing N, Bax DA, Blanco-Kelly F, Ramos P, Tarilonte M, Villaverde C, da Silva LRJ, Ballesta-Martnez MJ, Sanchez-Soler MJ, Holt RJ, Cooper-Charles L, Bruty J, Wallis Y, McMullan D, Hoffman J, Bunyan D, Stewart A, Stewart H, Lachlan K, Fryer A, McKay V, Roume J, Dureau P, Saggar A, Griffiths M, Calvas P, Ayuso C, Corton M, Ragge NK, et al. Takagi M, Narumi S, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T. A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation. Anophthalmia presents as a small, bony orbit, malar prominence, reduced palpebral fissure, short eyelids, and a constricted mucosal socket. To use the sharing features on this page, please enable JavaScript. congenital absence of the eye or eyes. Genes and Databases for chromosome locus and protein. Microphthalmia is a birth defect in which one or both eyes did not develop fully, so they are small. Keywords: Anopthalmia; microphthalmia; other disorders; quality of life. Anophthalmia/Microphthalmia (A/M) may affect one eye with the other eye being normal, or both eyes, resulting in blindness. Make sure you get prenatal care (care before birth) early and consistently. Two or more of these features need to be present for a clinical diagnosis only 30% of patients have all three. Schneider A, Young TL. Prosthetic eyes: Prosthetic eyes are placed in empty eye sockets. Familial In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Disclaimer. Last reviewed by a Cleveland Clinic medical professional on 09/07/2022. Contrary to popular belief, AAC devices do not hinder verbal development of speech, but rather support optimal speech and language development. University of Washington, Seattle, Seattle (WA). Ma AS, Grigg JR, Ho G, Prokudin I, Farnsworth E, Holman K, Cheng A, Billson FA, Martin F, Fraser C, Mowat D, Smith J, Christodoulou J, Flaherty M, Bennetts B, Jamieson RV. Both the globe (human eye) and the ocular What are the different ways a genetic condition can be inherited? Each child of a female proband with a constitutional. 2008 Mar 24;14:583-92. In a small number of cases, people with SOX2 anophthalmia syndrome have inherited the altered gene from an unaffected parent who has a SOX2 mutation only in their sperm or egg cells. Washington) are included with each copy; (ii) a link to the original material is provided Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Before placement, an evaluation is made to determine needed services and therapies and an individualized education plan (IEP) is developed for those who qualify based on established motor, language, social, or cognitive delay. whenever the material is published elsewhere on the Web; and (iii) reproducers, About 10 percent to 15 percent of people with anophthalmia in both eyes have SOX2 anophthalmia syndrome. 2007 Nov . A method for predictive engineering of a sample derived from a genetically optimized non-human donor suitable for xenotransplantation into a human having improved quality or perfo Delayed motor development was reported in the majority of affected children; the age of achieving independent walking ranged from 12 months to four years, although some individuals never achieve independent ambulation. A short animation explaining MAC. For details about heterozygous deletions of 3q26.33 involving SOX2, see Molecular Genetics. Mutations in the SOX2 gene cause SOX2 anophthalmia syndrome. MedlinePlus also links to health information from non-government Web sites. Routine karyotyping with additional FISH analysis if the proband has a deletion of 3q26.33 or other chromosome rearrangement involving 3q26.33, to determine if either parent has a balanced chromosome rearrangement involving the 3q26.33 region. About 10 percent to 15 percent of people with anophthalmia in both eyes have SOX2 anophthalmia syndrome. Genetic Testing Registry: Anophthalmia/microphthalmia-esophageal atresia syndrome, National Organization for Rare Disorders (NORD). Chromosomal aberrations involving this region of chromosome 3 have also been found. sox2 anophthalmia syndrome life expectancy golf lessons west seattle what race is tecna from winx club sox2 anophthalmia syndrome life expectancy 16 de junio de 2022 10.1002/ajmg.a.32384. SOX2 @ The Human Genetics Unit Edinburgh U.K. Gene-targeted deletion/duplication analysis, ~24% (~21% that could also be resolved by CMA & ~3% that are below the limit of detection by CMA), Bilateral microphthalmia &/or anophthalmia, Bilateral anophthalmia, optic disc aplasia/hypoplasia, Bilateral microphthalmia, coloboma, cataract, Unilateral or bilateral microphthalmia &/or anophthalmia. Here we provide a detailed description of the clinical features associated with SOX2 mutations in the five individuals with reported mutations and four newly identified cases (including the first reported SOX2 missense mutation). Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring. Anophthalmia and microphthalmia are birth defects of a baby's eye (s). Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, whole-exon or whole-gene deletions/duplications are not detected. Septum pellucidum defects, cerebellar hypoplasia, hypothalamic hamartoma, arachnoid cyst, and sellar or suprasellar tumors are also reported in multiple individuals [Ragge et al 2005, Sisodiya et al 2006, Gerth-Kahlert et al 2013, Blackburn et al 2018]. J Clin If the primary defect is in the mechanism of optic fissure closure, the predicted order of severity would be iris coloboma, choroidal/retinal coloboma, microphthalmia with coloboma or orbital cyst, and anophthalmia. Get useful, helpful and relevant health + wellness information, 9500 Euclid Avenue, Cleveland, Ohio 44195 |, Important Updates + Notice of Vendor Data Event. Genital abnormalities. Am J Med Genet A. For those receiving IEP services, the public school district is required to provide services until age 21. Sensorineural hearing loss. Bakrania P, Robinson DO, Bunyan DJ, Salt A, Martin A, Crolla JA, Wyatt A, INTRODUCTION SOX2 anophthalmia syndrome is an autosomal "Anophthalmia is the absence of one or both eyes. Anophthalmia is when a baby is born without one or both of their eyes. Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing, multigene panel, and chromosomal microarray analysis [CMA]) and comprehensive