Variable phenotype of secondary congenital corneal opacities associated with microphthalmia with linear skin defects syndrome.
MIDAS syndrome
MLS syndrome
congenital corneal opacities
congenital primary aphakia
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
02 2023
02 2023
Historique:
revised:
27
10
2022
received:
01
09
2022
accepted:
28
10
2022
pubmed:
13
11
2022
medline:
13
1
2023
entrez:
12
11
2022
Statut:
ppublish
Résumé
To describe the anterior segment (AS) findings in patients with microphthalmia with linear skin defects syndrome (MLS), also known as microphthalmia, dermal aplasia, and sclerocornea (MIDAS). A retrospective chart review was conducted to identify patients with a diagnosis of MLS syndrome seen at UPMC Children's Hospital of Pittsburgh. Ophthalmic examination, high-frequency ultrasound, AS optical coherence tomography, and molecular testing were reviewed. Five female patients (10 eyes) were identified. One eye was anophthalmic, one was in a status post penetrating keratoplasty, and eight eyes presented with congenital corneal opacity (CCO). Of these, one showed a normal lens and a very small faint CCO; five showed congenital aphakia and characteristic silvery appearance of the cornea with vascularization; and two showed irido-corneal adhesions in association with normal or abnormal lens and localized avascular CCO. Genetic testing was performed and revealed involvement of HCCS in four patients. In MLS patients, kerato-irido-lenticular dysgenesis can be associated with secondary CCO. It is important to distinguish these CCO from sclerocornea, in order to refine the appropriate management and counseling the parents about the prognosis.
Identifiants
pubmed: 36369709
doi: 10.1002/ajmg.a.63043
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
586-591Informations de copyright
© 2022 Wiley Periodicals LLC.
Références
Al-Gazali, L. I., Mueller, R. F., Caine, A., Antoniou, A., McCartney, A., Fitchett, M., & Dennis, N. R. (1990). Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: A new syndrome at Xp22.3. Journal of Medical Genetics, 27(1), 59-63. https://doi.org/10.1136/jmg.27.1.59
Banganho, D., Oliveira, I., Machado, C., & Póvoas, M. (2019). Microphthalmia with linear skin defects syndrome (MIDAS). BMJ Case Reports, 12(4), e227791. https://doi.org/10.1136/bcr-2018-227791
Bhandari, R., Ferri, S., Whittaker, B., Liu, M., & Lazzaro, D. R. (2011). Peters anomaly: Review of the literature. Cornea, 30(8), 939-944. https://doi.org/10.1097/ICO.0b013e31820156a9
Chaurasia, S., Jakati, S., Ramappa, M., Mishra, D. K., & Edward, D. P. (2020). Anterior segment alterations in congenital primary aphakia--A clinicopathologic report of five cases. Indian Journal of Ophthalmology, 68(8), 1564-1568. https://doi.org/10.4103/ijo.IJO_2078_19
Ernst, J., Medsinge, A., Scanga, H. L., Hiasat, J., Moore, W., Ali, A., Levin, A. V., Stahl, E. D., & Nischal, K. K. (2022). Congenital primary aphakia. Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 26(1), 4.e1-4.e5. https://doi.org/10.1016/j.jaapos.2021.09.008
Happle, R., Daniëls, O., & Koopman, R. J. (1993). MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): An X-linked phenotype distinct from Goltz syndrome. American Journal of Medical Genetics, 47(5), 710-713. https://doi.org/10.1002/ajmg.1320470525
Indrieri, A., & Franco, B. (2021). Linear skin defects with multiple congenital anomalies (LSDMCA): An unconventional mitochondrial disorder. Genes, 12(2), 263. https://doi.org/10.3390/genes12020263
Kapur, R., Tu, E. Y., Toyran, S., Shah, P., Vangveeravong, S., Lloyd, W. C., 3rd, & Edward, D. P. (2008). Corneal pathology in microphthalmia with linear skin defects syndrome. Cornea, 27(6), 734-738. https://doi.org/10.1097/01.ico.0000611352.03660.a7
Kono, T., Migita, T., Koyama, S., & Seki, I. (1999). Another observation of microphthalmia in an XX male: Microphthalmia with linear skin defects syndrome without linear skin lesions. Journal of Human Genetics, 44(1), 63-68. https://doi.org/10.1007/s100380050110
Morleo, M., & Franco, B. (2009). In M. P. Adam, et al. (Eds.), GeneReviews® Microphthalmia with linear skin defects syndrome. University of Washington.
Nischal, K. K. (2012). A new approach to the classification of neonatal corneal opacities. Current Opinion in Ophthalmology, 23(5), 344-354. https://doi.org/10.1097/ICU.0b013e328356893d
Thompson, A. C., Thompson, M. O., Lim, M. E., Freedman, S. F., & Enyedi, L. B. (2018). Microphthalmia, dermal aplasia, and sclerocornea syndrome: Endoscopic cyclophotocoagulation in the management of congenital glaucoma. Journal of Glaucoma, 27(1), e7-e10. https://doi.org/10.1097/IJG.0000000000000812
van Rahden, V. A., Fernandez-Vizarra, E., Alawi, M., Brand, K., Fellmann, F., Horn, D., Zeviani, M., & Kutsche, K. (2015). Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome. American Journal of Human Genetics, 96(4), 640-650. https://doi.org/10.1016/j.ajhg.2015.02.002
van Rahden, V. A., Rau, I., Fuchs, S., Kosyna, F. K., de Almeida, H. L., Jr, Fryssira, H., Isidor, B., Jauch, A., Joubert, M., Lachmeijer, A. M., Zweier, C., Moog, U., & Kutsche, K. (2014). Clinical spectrum of females with HCCS mutation: From no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome. Orphanet Journal of Rare Diseases, 9, 53. https://doi.org/10.1186/1750-1172-9-53
Vergult, S., Leroy, B., Claerhout, I., & Menten, B. (2013). Familial cases of a submicroscopic Xp22.2 deletion: Genotype-phenotype correlation in microphthalmia with linear skin defects syndrome. Molecular Vision, 19, 311-318.
Wimplinger, I., Morleo, M., Rosenberger, G., Iaconis, D., Orth, U., Meinecke, P., Lerer, I., Ballabio, A., Gal, A., Franco, B., & Kutsche, K. (2006). Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. American Journal of Human Genetics, 79(5), 878-889. https://doi.org/10.1086/508474
Wimplinger, I., Shaw, G. M., & Kutsche, K. (2007). HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: A novel gene for severe ocular malformations? Molecular Vision, 13, 1475-1482.
Zvulunov, A., Kachko, L., Manor, E., Shinwell, E., & Carmi, R. (1998). Reticulolinear aplasia cutis congenita of the face and neck: A distinctive cutaneous manifestation in several syndromes linked to Xp22. The British Journal of Dermatology, 138(6), 1046-1052. https://doi.org/10.1046/j.1365-2133.1998.02277.x