Turner Syndrome: Ocular Manifestations and Considerations for Corneal Refractive Surgery

Moshirfar, Majid; Parsons, Mark T; Lau, Chap-Kay; Chartrand, Nicholas A; Ronquillo, Yasmyne C; Hoopes, Phillip C

doi:10.3390/jcm11226853

Cited by 4 publications

(1 citation statement)

References 44 publications

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“…While standard postoperative anti-inflammatory drops such as steroids should be used, a preservative-free version should be considered given the limbal stem cell abnormalities seen in these patients ( Landsend et al, 2021 ), especially since the progression of aniridia-associated keratopathy has been noted in adults as well as anecdotally reported in children (usually teenagers) ( Park et al, 2010 ). Anterior fibrosis syndrome may rarely be seen in children ( Moshirfar et al, 2022 ), but the prognosis is extremely poor.…”

Section: Therapeutic Approachesmentioning

confidence: 99%

Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches

Daruich

Duncan

Robert³

et al. 2023

Progress in Retinal and Eye Research

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Section: Therapeutic Approachesmentioning

confidence: 99%

Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches

Daruich

Duncan

Robert³

et al. 2023

Progress in Retinal and Eye Research

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Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)

Lin,

Scimone,

Thom

et al. 2024

American J of Med Genetics Pt A

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Myhre syndrome is an increasingly diagnosed ultrarare condition caused by recurrent germline autosomal dominant de novo variants in SMAD4. Detailed multispecialty evaluations performed at the Massachusetts General Hospital (MGH) Myhre Syndrome Clinic (2016–2023) and by collaborating specialists have facilitated deep phenotyping, genotyping and natural history analysis. Of 47 patients (four previously reported), most (81%) patients returned to MGH at least once. For patients followed for at least 5 years, symptom progression was observed in all. 55% were female and 9% were older than 18 years at diagnosis. Pathogenic variants in SMAD4 involved protein residues p.Ile500Val (49%), p.Ile500Thr (11%), p.Ile500Leu (2%), and p.Arg496Cys (38%). Individuals with the SMAD4 variant p.Arg496Cys were less likely to have hearing loss, growth restriction, and aortic hypoplasia than the other variant groups. Those with the p.Ile500Thr variant had moderate/severe aortic hypoplasia in three patients (60%), however, the small number (n = 5) prevented statistical comparison with the other variants. Two deaths reported in this cohort involved complex cardiovascular disease and airway stenosis, respectively. We provide a foundation for ongoing natural history studies and emphasize the need for evidence‐based guidelines in anticipation of disease‐specific therapies.

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Long-term Treatment of congenital glaucoma and Turner syndrome associated with DMPK gene mutation

Guo

Zhang

Hong

2023

Preprint

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Background: Turner syndrome (TS) is a rare disorder associated with complete or partial deletion of the X chromosome, with clinical manifestations including short stature, hypogonadism, cardiovascular system abnormalities, autoimmune disease, and other systemic abnormalities. TS patients with congenital glaucoma are rare. Case presentation: A 27-year-old female with the karyotype of (45,X) and the DMPK gene Kc.335T>C(p.M112T) on chromosome 19 was diagnosed with congenital glaucoma and TS, presenting with right eye atrophy, cataract, blue sclera, ptosis, amblyopia, and blue-violet blindness in the left eye. Systematic examination revealed the absence of menstruation, congenital uterine agenesis, hypertension, aortic valve malformation, mild aortic regurgitation, diabetes mellitus, abnormal thyroid function, frequent diarrhea, uneven density of the right posterior patella, left pleural adhesions, left renal atrophy, and congenital webbed neck. Multiple anti-glaucoma surgeries were performed, and the intraocular pressure (IOP) was under control in the left eye. Conclusion: The case exhibited a rare coexistence of primary congenital glaucoma, Turner syndrome, and a DMPK gene mutation. Long-term treatment can keep IOP stable. The difficulty of congenital glaucoma treatment may be related to a specific type of genetic mutation.

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Turner Syndrome: Ocular Manifestations and Considerations for Corneal Refractive Surgery

Cited by 4 publications

References 44 publications

Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches

Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches

Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)

Long-term Treatment of congenital glaucoma and Turner syndrome associated with DMPK gene mutation

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