Microphthalmia with linear skin defects syndrome (MIDAS)

Banganho, Denise; Oliveira, Inés; Machado, Catarina; Póvoas, Marta

doi:10.1136/bcr-2018-227791

Cited by 4 publications

(2 citation statements)

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“…Three previous studies reported the presence of CA in MLS patients, and in all of them, a corneal opacification with neovascularization was present (Banganho et al, 2019; Thompson et al, 2018; van Rahden et al, 2014). Two of them had molecular confirmation of an Xq22 deletion encompassing the HCCS gene and described the phenotype as sclerocornea, but most likely it was related to the absence of the lens (Banganho et al, 2019; van Rahden et al, 2014).…”

Section: Discussionmentioning

confidence: 90%

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Variable phenotype of secondary congenital corneal opacities associated with microphthalmia with linear skin defects syndrome

Franco

Scanga

Nischal

2022

American J of Med Genetics Pt A

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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.congenital corneal opacities, congenital primary aphakia, MIDAS syndrome, MLS syndrome | INTRODUCTIONMicrophthalmia with linear skin defects syndrome (MLS) or microphthalmia, dermal aplasia, and sclerocornea (MIDAS) syndrome is a rare X-linked dominant disorder caused by pathogenic variants or copy number variants in the HCCS, COX7B, or NDUFB11 genes (van Rahden et al., 2015). The proposed diagnostic criteria include microphthalmia and/or anophthalmia as the cardinal ocular features to

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Section: Discussionmentioning

confidence: 90%

“…Patients with MLS syndrome can present with corneal opacification. Happle et al coined the acronym MIDAS (Happle et al, 1993), since sclerocornea is the most frequent reported eye manifestation after microphthalmia/anophthalmia (Banganho et al, 2019).…”

Section: Discussionmentioning

confidence: 99%