Congenital Microcoria: Clinical Features and Molecular Genetics

Angée, Clémentine; Nédelec, Brigitte; Erjavec, Elisa; Rozet, Jean–Michel; Fares-Taie, Lucas

doi:10.3390/genes12050624

Cited by 13 publications

(29 citation statements)

References 59 publications

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“…8 Previous literature has majorly reported "microdeletions" in the 13q32 region causing congenital microcoria. 9 Multiple families of this rare disease were reported, with submicroscopic chromosomal rearrangements mapped on the locus at 13q32. It was concluded that the GPR180 gene, located within the deleted region, encodes a G protein-coupled receptor involved in smooth muscle cells growth and it was concluded that deletions of this gene are the cause of MCOR.…”

Section: Discussionmentioning

confidence: 99%

A Rare Case of Microduplication on Chromosome 13 Detected as High Risk for Trisomy 13 on NIPT Screening

Murarka¹,

Kotecha²,

Pamnani³

et al. 2023

Journal of Fetal Medicine

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Noninvasive prenatal testing (NIPT) has revolutionized the screening methods for fetal chromosomal aneuploidies with high utility for aneuploidies for common chromosomes 13,18, 21, X and Y. Trisomy 13 is often associated with major and minor fetal malformations and can be screened by antenatal fetal scan and first- and second-trimester biochemical screening. We describe a case with high risk for trisomy 13 on NIPT, but without any fetal abnormalities on fetal scan. As recommended, follow-up invasive testing of amniotic fluid by chromosomal microarray detected a microduplication on chromosome 13, which has been associated with congenital microcoria. This case demonstrates the high sensitivity and clinical utility of NIPT in detecting rare copy number variations, which can assist families in making informed reproductive decisions. This also emphasizes that all screen positive NIPT cases should be confirmed with an appropriate diagnostic test by an invasive method.

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Section: Discussionmentioning

confidence: 99%

A Rare Case of Microduplication on Chromosome 13 Detected as High Risk for Trisomy 13 on NIPT Screening

Murarka¹,

Kotecha²,

Pamnani³

et al. 2023

Journal of Fetal Medicine

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“…The iris is composed of four layers: anterior border layer, stroma and sphincter muscle, anterior pigment epithelium layer and dilator muscle, and posterior pigment epithelium layer. Among them, the sphincter muscle can constrict the pupil in miosis and dilator muscle can expand the pupillary aperture in mydriasis to control the quantity of light to enter the eye [ 4 , 5 ].…”

Section: Discussionmentioning

confidence: 99%

“…The definition of congenital microcoria was first described by Holth in 1923 [ 6 ]. Congenital microcoria manifested in pinhole pupil (< 2 mm), poor development of the crypt and collarette, thinning iris stroma with corresponding transillumination, abnormal iridocorneal angle with minimally pigmented [ 4 , 7 ]. Congenital microcoria is associated with axial myopia, glaucoma, astigmatism, cataract and goniodysgenesis [ 8 ].…”

Section: Discussionmentioning

confidence: 99%

A rare case of congenital pupillary abnormality: a case report

Hao

Song

et al. 2022

BMC Ophthalmol

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Background Congenital anomalies of the pupil are quite varied, including abnormal size, shape, color, response to stimulus, and function. We are here reporting an unusual case presented with the absence of pupillary opening with folds of iris tissue at the center. Only an extremely small pupil (diameter < 0.5 mm) could be observed during the operation. Case presentation A 15-year-old male patient visited our outpatient clinic due to vision difficulty in his right eye for more than ten years. The best-corrected visual acuity was 2.0 logMAR and 0 logMAR for the right and left eye, respectively. There were amblyopia, astigmatism and constant exotropia in his right eye. Ophthalmic examination of the right eye showed flat iris root, minimal iris pigmentation, and the pupil area was entirely covered by iris tissue. Lens status and fundus evaluation could not be commented. The left eye was found to be within normal limit. Based on ophthalmic examination, the admission diagnosis was given as acorea. Pupilloplasty was performed on the right eye due to the situation that the iris tissue blocked the visual axis, which led to visual impairment and stimulus deprivation amblyopia. However, an extremely small pupil at the center of his pupillary area was observed during the operation. The postoperative course was favorable, and a normal pupil was secured. Hospital discharge diagnosis was given as microcoria, and amblyopia treatment was followed. Conclusions We report a rare case of congenital pupillary abnormality. The further diagnosis was given as microcoria, which should be differentiated from acorea. For this kind of pupil disorder which blocks the visual axis, early diagnosis and treatment can help prevent the development of stimulus deprivation amblyopia.

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“…Thus, the physical characteristics of the eye and medical information about it provide the researcher with a broad understanding of the iris as shown in figure 4 (Bhanu & Kumar, n.d.). The iris is composed of two main regions (Angée et al, 2021):…”

Section: Human and Computer Visionmentioning

confidence: 99%

A Study of Gender Classification Techniques Based on Iris Images: A Deep Survey and Analysis

Hasan

Mstafa

2022

SJUOZ

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Gender classification is attractive in a range of applications, including surveillance and monitoring, corporate profiling, and human-computer interaction. Individuals' identities may be gleaned from information about their gender, which is a kind of soft biometric. Over the years, several methods for determining a person's gender have been devised. Some of the most well-known ones are based on physical characteristics like face, fingerprint, palmprint, DNA, ears, gait, and iris. On the other hand, facial features account for the vast majority of gender classification methods. Also, the iris is a significant biometric trait, because the iris, according to research, remains basically constant during an individual's life. Besides that, the iris is externally visible and is non-invasive to the user, which is important for practical applications. Furthermore, there are already high-quality methods for segmenting and encoding iris images, and the current methods facilitate selecting and extracting attribute vectors from iris textures. This study discusses several approaches to determining gender. The previous works of literature are briefly reviewed. Additionally, there are a variety of methodologies for different steps of gender classification. This study provides researchers with knowledge and analysis of the existing gender classification approaches. Also, it will assist researchers who are interested in this specific area, as well as highlight the gaps and challenges in the field, and finally provide suggestions and future paths for improvement.

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Congenital Microcoria: Clinical Features and Molecular Genetics

Cited by 13 publications

References 59 publications

A Rare Case of Microduplication on Chromosome 13 Detected as High Risk for Trisomy 13 on NIPT Screening

A Rare Case of Microduplication on Chromosome 13 Detected as High Risk for Trisomy 13 on NIPT Screening

A rare case of congenital pupillary abnormality: a case report

A Study of Gender Classification Techniques Based on Iris Images: A Deep Survey and Analysis

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