Unilateral inferior rectus hypoplasia in a child with Axenfeld-Rieger syndrome

Bhate, Manjushree; Martin, Frank

doi:10.1016/j.jaapos.2012.02.014

Cited by 13 publications

(7 citation statements)

References 8 publications

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“…Hypoplasia of extraocular muscles derived from mesodermal complex also appeared in ARS. Bhate and Martin [ 13 ] reported a 6-year-old boy with hypoplasia of right inferior rectus muscle presenting exotropia; while Park et al [ 14 ] reported another 4-year-old girl with more posteriorly insertion of superior oblique presenting exotropia and dissociated vertical deviation (DVD). Other posterior segment abnormality also appeared in ARS case reports.…”

Section: Discussionmentioning

confidence: 99%

The rare Axenfeld–Rieger syndrome with systemic anomalies

Song

2017

Medicine

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Rationale:Axenfeld–Rieger syndrome (ARS) is a rare autosomal dominant disorder with ocular anterior segment dysgenesis and systemic anomalies.Patient concerns:A 28-year-old Chinese Han female was referred to Beijing Tongren Eye Center for progressive decrease of the visual acuity on her right eye in the past month.Diagnoses:The patient was diagnosed as ARS with retinal detachment based on series of ophthalmic examinations performed.Interventions:A pars plana vitrectomy was performed to manage the retinal detachment.Outcomes:Her best-corrected visual acuity was slightly improved after surgery.Lessons:ARS is a developmental defect of ocular anterior segment with various clinical manifestations which might cause misdiagnosis.

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Section: Discussionmentioning

confidence: 99%

The rare Axenfeld–Rieger syndrome with systemic anomalies

Song

2017

Medicine

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“…The finding of patients with masseter muscle defects but normal jaw bones (Heude et al, 2011), coupled with the mouse genetic data on the development of the masseter (Heude et al, 2010), suggests that defects in the MCT associated with the masseter may be the cause of the defects in these patients. Another interesting example of cranial muscle defects is Axenfeld-Rieger syndrome, an autosomal dominant disorder characterized by defects in the eye (Lines et al, 2004; Meyer-Marcotty et al, 2008; Semina et al, 1996), and although extraocular muscles are present, they may be smaller or have anomalous insertions (Bhate and Martin, 2012; Park et al, 2009). PITX2 mutations are frequently associated with this syndrome and based on the mouse genetic analysis of the importance of Pitx2 in the neural crest in patterning extraocular muscle insertions (Evans and Gage, 2005), it is possible that defects in the neural crest are responsible for this phenotype.…”

Section: Cranial Musclementioning

confidence: 99%

Connecting muscle development, birth defects, and evolution: An essential role for muscle connective tissue

Sefton

Kardon

2019

Current Topics in Developmental Biology

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Skeletal muscle powers all movement of the vertebrate body and is distributed in multiple regions that have evolved distinct functions. Axial muscles are ancestral muscles essential for support and locomotion of the whole body. The evolution of the head was accompanied by development of cranial muscles essential for eye movement, feeding, vocalization, and facial expression. With the evolution of paired fins and limbs and their associated muscles, vertebrates gained increased locomotor agility, populated the land, and acquired fine motor skills. Finally, unique muscles with specialized functions have evolved in some groups, and the diaphragm which solely evolved in mammals to increase respiratory capacity is one such example. The function of all these muscles requires their integration with the other components of the musculoskeletal system: muscle connective tissue (MCT), tendons, bones as well as nerves and vasculature. MCT is muscle’s closest anatomical and functional partner. Not only is MCT critical in the adult for muscle structure and function, but recently MCT in the embryo has been found to be crucial for muscle development. In this review, we examine the important role of the MCT in axial, head, limb, and diaphragm muscles for regulating normal muscle development, discuss how defects in MCT-muscle interactions during development underlie the etiology of a range of birth defects, and explore how changes in MCT development or communication with muscle may have led to the modification and acquisition of new muscles during vertebrate evolution.

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“…2,4,5 Superior rectus recession surgery improves cosmesis but does not improve ocular motility in downgaze. 7,8 Astle and colleauges 9 have reported use of botulinum toxin in tight superior rectus muscles intraoperatively with potential reversibility of possible postoperative ptosis. The residual vertical and horizontal deviation was treated by transposition along with recession and resection of horizontal muscle with good surgical outcome as has been described by Hong and colleauges 10 for large exotropia in a patient of monocular elevation deficit.…”

Section: Discussionmentioning

confidence: 99%