Treacher Collins syndrome with microcornea and retinal detachment

Holla, Abijith; Gonsalves, Sarita R J; Lobo, Geover Joslen

doi:10.1136/bcr-2013-202425

Cited by 3 publications

(2 citation statements)

References 2 publications

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“…In addition to another patient bearing p.Ala64Val variant in RPL10 (Zanni et al, 2015), all the four patients herein presented showed some degree of retinal damage, ranging from mild cones dysfunction to bilateral retinitis pigmentosa, that emerged at early age as difficulties in object fixation, squinting, exotropia, and nystagmus. Retinal anomalies have been described in other ribosomopathies such as SD‐S due to biallelic DNAJC21 mutations (Warren, 2018), and TCS (Goverdhan et al, 2005; Holla et al, 2013). Like other ribosomal genes such as RPS9, RPL7A, RPL21, RPS19, and DBA are expressed in the retina and involved in retinal degeneration (Uechi et al, 2001; Xie et al, 2009), RPL10 is also expressed in the human retina (Pinelli et al, 2016) at 553rd position out of 12,000 expressed genes.…”

Section: Discussionmentioning

confidence: 99%

Postnatal microcephaly and retinal involvement expand the phenotype of RPL10‐related disorder

Cappuccio

Bernardi

Morlando

et al. 2022

American J of Med Genetics Pt A

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Hemizygous missense variants in the RPL10 gene encoding a ribosomal unit are responsible for an X-linked syndrome presenting with intellectual disability (ID), autism spectrum disorder, epilepsy, dysmorphic features, and multiple congenital anomalies. Among 15 individuals with RPL10-related disorder reported so far, only one patient had retinitis pigmentosa and microcephaly was observed in approximately half of the cases. By exome sequencing, three Italian and one Spanish male children, from three independent families, were found to carry the same hemizygous novel missense variant p.(Arg32Leu) in RPL10, inherited by their unaffected mother in all cases. The variant, not reported in gnomAD, is located in the 28S rRNA binding region, affecting an evolutionary conserved residue and predicted to disrupt the saltbridge between Arg32 and Asp28. In addition to features consistent with RPL10-related disorder, all four boys had retinal degeneration and postnatal microcephaly. Pathogenic variants in genes responsible for inherited retinal degenerations were ruled out in all the probands. A novel missense RPL10 variant was detected in four probands with a recurrent phenotype including ID, dysmorphic features, progressive postnatal microcephaly, and retinal anomalies. The presented individuals suggest that

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Section: Discussionmentioning

confidence: 99%

Postnatal microcephaly and retinal involvement expand the phenotype of RPL10‐related disorder

Cappuccio

Bernardi

Morlando

et al. 2022

American J of Med Genetics Pt A

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“…Cataract, ectopic pupil, uveal coloboma, and occasional microphthalmos, and even anophthalmos, have also been reported. 20 21 24 Holla et al 25 reported a case with microcornea with retinal detachment in a case of TCS. 25 …”

Section: Discussionmentioning

confidence: 99%

Treacher Collins syndrome: A case report and review of ophthalmic features

Sharma

Babber

et al. 2016

Taiwan Journal of Ophthalmology

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Treacher Collins syndrome is a congenital disorder with bilaterally symmetric anomalies of the structures developing from the first and second branchial arches. The ocular and orbital features are an obligatory component for the diagnosis. We presented a case of typical, complete syndrome and also reviewed the varied ophthalmological manifestations of the disease in the literature. Antimongoloid slanting of palpebral fissures and lower lid colobomas are constant features of the syndrome. However, varied ocular and lacrimal drainage anomalies are also associated. TCS is a syndrome with multiple ocular and orbital features, a knowledge of which will help in the diagnosis of incomplete forms of the syndrome.

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