Rothmund-Thomson syndrome and ocular surface findings: case reports and review of the literature

Miranda, Ana Filipa; Rivera-Monge, Maria Daniela; Farias, Charles Costa de

doi:10.5935/0004-2749.20160053

Cited by 5 publications

(2 citation statements)

References 4 publications

(7 reference statements)

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“…[ 9 10 ] Another case report shows the involvement of ocular surface such as inflammatory conjunctival disease with fornix shortening, symblepharon, with sparse eyelashes. [ 11 ] Here it is a case presenting with severe meibomian gland dysfunction (MGD) associated with this syndrome leading to dry eye. Infrared (IR) meibography helps in diagnosing the cause for dry eye and photophobia in these cases, apart from cicatricial ectropion due to pathology of skin.…”

Section: Discussionmentioning

confidence: 99%

Ophthalmic manifestations in Rothmund–Thomson syndrome: Case report and review of literature

Chinmayee

Meghana

Prathiba

et al. 2017

Indian J Ophthalmol

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A 24-year-old male patient presented to us with diminution of vision in both eyes with watering and photophobia for the past 8 years. General physical examination showed short stature and poikiloderma. Ocular findings include photophobia with reflex tearing, dry eye, cicatricial ectropion, symblepharon approaching pupillary area of cornea, and multiple superficial punctuate erosions on the cornea. Both eyelids showed scanty meibomian glands on infrared meibography. The rest of the anterior and posterior segment was normal. The patient was treated with topical lubricants which reduced photophobia and corneal erosions. He then underwent symblepharon release with buccal mucosal grafting, which improved ectropion. Patient improved symptomatically with reduction of photophobia and improvement in vision as well.

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Section: Discussionmentioning

confidence: 99%

Ophthalmic manifestations in Rothmund–Thomson syndrome: Case report and review of literature

Chinmayee

Meghana

Prathiba

et al. 2017

Indian J Ophthalmol

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“…While the clinical presentation of RTS patients can be heterogeneous and hamper a precise diagnosis (Haytaç et al, 2002;Stinco et al, 2008;Polese et al, 2011;Barisonek et al, 2016;Miranda et al, 2016;Pasagadugula et al, 2016;Chinmayee et al, 2017;Ahn et al, 2019;Zirn et al, 2021), current guidelines indicate that the individual must have, in addition to poikiloderma, at least two of the following clinical findings (Wang et al, 2001;Wang and Plon, 2020).…”

Section: Rothmund-thomson Syndrome Diagnosismentioning

confidence: 99%

Rothmund-Thomson syndrome, a disorder far from solved

Martins,

Di Lazzaro Filho,

Bertola

et al. 2023

Front. Aging

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Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by a range of clinical symptoms, including poikiloderma, juvenile cataracts, short stature, sparse hair, eyebrows/eyelashes, nail dysplasia, and skeletal abnormalities. While classically associated with mutations in the RECQL4 gene, which encodes a DNA helicase involved in DNA replication and repair, three additional genes have been recently identified in RTS: ANAPC1, encoding a subunit of the APC/C complex; DNA2, which encodes a nuclease/helicase involved in DNA repair; and CRIPT, encoding a poorly characterized protein implicated in excitatory synapse formation and splicing. Here, we review the clinical spectrum of RTS patients, analyze the genetic basis of the disease, and discuss molecular functions of the affected genes, drawing some novel genotype-phenotype correlations and proposing avenues for future studies into this enigmatic disorder.

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