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PubMed | Thomas Jefferson University, Northampton General Hospital, Pediatric Ophthalmology and Ocular Genetics, University of Leeds and 2 more.
Type: Journal Article | Journal: European journal of human genetics : EJHG | Year: 2016

Heimler syndrome (HS) consists of recessively inherited sensorineural hearing loss, amelogenesis imperfecta (AI) and nail abnormalities, with or without visual defects. Recently HS was shown to result from hypomorphic mutations in PEX1 or PEX6, both previously implicated in Zellweger Syndrome Spectrum Disorders (ZSSD). ZSSD are a group of conditions consisting of craniofacial and neurological abnormalities, sensory defects and multi-organ dysfunction. The finding of HS-causing mutations in PEX1 and PEX6 shows that HS represents the mild end of the ZSSD spectrum, though these conditions were previously thought to be distinct nosological entities. Here, we present six further HS families, five with PEX6 variants and one with PEX1 variants, and show the patterns of Pex1, Pex14 and Pex6 immunoreactivity in the mouse retina. While Ratbi et al. found more HS-causing mutations in PEX1 than in PEX6, as is the case for ZSSD, in this cohort PEX6 variants predominate, suggesting both genes play a significant role in HS. The PEX6 variant c.1802G>A, p.(R601Q), reported previously in compound heterozygous state in one HS and three ZSSD cases, was found in compound heterozygous state in three HS families. Haplotype analysis suggests a common founder variant. All families segregated at least one missense variant, consistent with the hypothesis that HS results from genotypes including milder hypomorphic alleles. The clinical overlap of HS with the more common Usher syndrome and lack of peroxisomal abnormalities on plasma screening suggest that HS may be under-diagnosed. Recognition of AI is key to the accurate diagnosis of HS.


PubMed | Pediatric Ophthalmology and Ocular Genetics, Thomas Jefferson University, Childrens Hospital of the Kings Daughters and Wills Eye Hospital
Type: Case Reports | Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus | Year: 2015

The cri-du-chat syndrome is a rare genetic disorder caused by deletions in the short arm of chromosome 5. It presents with a distinctive catlike high-pitched cry, psychomotor delays, microcephaly, craniofacial abnormalities, and, in many cases, ocular findings. We report the first child with cri-du-chat and the findings of unilateral corneal staphyloma due to Peters anomaly and retinal dysplasia.


Sadagopan K.A.,Pediatric Ophthalmology and Ocular Genetics | Wasserman B.N.,Wills Eye Institute
Current Opinion in Ophthalmology | Year: 2013

PURPOSE OF REVIEW: To provide clinically relevant information regarding the evaluation and current treatment options for oculomotor nerve palsies. We survey recent literature and provide some insights into these studies. RECENT FINDINGS: Recent case reports highlight emerging new causes of oculomotor cranial nerve palsies, including sellar chordoma, odontogenic abscess, nonaneurysmal subarachnoid hemorrhage, polycythemia, sphenoiditis, neurobrucellosis, interpeduncular fossa lipoma, metastatic pancreatic cancer, leukemia, and lymphoma. Surgical studies have focused on modifications and innovations regarding strabismus surgery for this condition. New globe fixation procedures may include fixation to the medial orbital wall by precaruncular and retrocaruncular approaches, apically based orbital bone periosteal flap fixation and the suture/T-plate anchoring platform system. SUMMARY: Management of oculomotor nerve palsy depends in part upon the underlying cause and anatomical location of the lesion. Careful clinical evaluation and appropriate imaging can identify a definitive cause in most cases. Surgical options depend on the number, extent, and severity of the muscles involved as well as the presence or absence of signs of aberrant regeneration. The clinician should also address issues that arise due to involvement of the pupil and accommodation. Strabismus surgery can be challenging but also rewarding with appropriate selection and staging of procedures. © 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins.

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