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Grant W. Heinz

Bio: Grant W. Heinz is an academic researcher from Jules Stein Eye Institute. The author has contributed to research in topics: Hypoplasia & Nasolacrimal duct obstruction. The author has an hindex of 1, co-authored 1 publications receiving 25 citations.

Papers
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Journal ArticleDOI
TL;DR: This study studies a mother and daughter with an extremely rare constellation of signs and symptoms that supports the autosomal dominant inheritance of this syndrome, delineates the ophthalmic manifestations, and provides evidence that renal anomalies are part of the disorder.

25 citations


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Journal ArticleDOI
Jeff M. Milunsky1, G Zhao, Thomas A. Maher, R Colby, DB Everman 
TL;DR: It is concluded that ALSG and LADD syndrome may represent variable presentations of the same clinical spectrum caused by FGF10 mutations.
Abstract: Lacrimo-auriculo-dento-digital syndrome [LADD (MIM 149730)] is an autosomal-dominant multiple congenital anomaly disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies. Loss of function mutations in FGF10 were recently described in aplasia of the lacrimal and salivary glands [ALSG (MIM 180920; MIM 103420)] (Entesarian et al., Nat Genet 2005: 37: 125-127, Milunsky et al., American College of Medical Genetics Annual Meeting, Dallas, TX, 2005: A100). Due to the significant phenotypic overlap between LADD syndrome and ALSG and the variable expressivity of both the disorders, we hypothesized that FGF10 mutations could also result in LADD syndrome. A de novo missense mutation was found in exon 3 of FGF10 in a 3-year-old female (Family 1) with LADD syndrome. This missense mutation, resulting in a non-conservative amino acid change, was confirmed by restriction enzyme digestion and was not found in 500 control chromosomes. A nonsense mutation was also found in exon 2 of FGF10 (Family 2) in a 19-year-old mother with ALSG and her 2-year-old daughter with LADD syndrome. Previous studies of FGF10 mutant mice have demonstrated abnormalities consistent with ALSG and LADD syndrome. We conclude that ALSG and LADD syndrome may represent variable presentations of the same clinical spectrum caused by FGF10 mutations.

131 citations

Journal ArticleDOI
TL;DR: An autosomal dominant pattern of inheritance with variable expressivity has been demonstrated andRenal and uro-genital anomalies have been noted variably.

39 citations

Journal ArticleDOI
TL;DR: Surgical challenges in these patients are distinct and a thorough pre and intraoperative anatomical assessment, detailed imaging when indicated, and assessment and correction of associated periocular and facial abnormalities may facilitate good outcomes.
Abstract: Purpose To review and summarize the syndromic, nonsyndromic, and systemic associations of congenital lacrimal drainage anomalies. Methods The authors performed a PubMed search of all articles published in English on congenital lacrimal anomalies (1933-2016). Patients of these articles were reviewed along with the literature of direct references to syndromes and other systemic associations. Data reviewed included syndromic descriptions, systemic details, demographics, lacrimal presentations, management, and outcomes. Results Syndromic and systemic associations with congenital lacrimal drainage disorders are not known to be common. Although familial presentations have been reported, the inheritance patterns are unclear for most anomalies. There is an increasingly growing evidence of a genetic basis to many lacrimal anomalies. However, few syndromes have either widespread or are frequently associated with lacrimal anomalies. Few sequences of distinct lacrimal presentations and intraoperative findings are seen. Surgical challenges in these patients are distinct and a thorough pre and intraoperative anatomical assessment, detailed imaging when indicated, and assessment and correction of associated periocular and facial abnormalities may facilitate good outcomes. Conclusions Lacrimal drainage anomalies associated with syndromic and nonsyndromic systemic conditions have certain unique features of their own and their surgical and anesthesia challenges are distinct. Diagnosis of congenital lacrimal drainage anomalies should prompt consideration of the possible presence of associated systemic abnormalities.

34 citations

Journal ArticleDOI
TL;DR: In this paper, the authors examined and described three siblings with alacrima, the eldest of whom had associated achalasia and adrenocortical insufficiency, and the two younger children showed interpalpebral corneal staining with rose bengal.

30 citations

Journal Article
TL;DR: The first reported case of SEMHT formation in the orbita was reported in this article, where the patient developed orbital masses after splenectomy, but it is not clear whether the formation of the SEMHTs is related to splen surgery.
Abstract: absence of a highly cellular marrowlike appearance and by the presence of a predominantly sclerotic background. It is believed that myelofibrosis results from a proliferation of polyclonal fibroblasts that is secondary to cytokines released from clonal megakaryocytes or platelets. The orbita is not a typical site for hematopoiesis in either fetuses or adults, and the cause of SEMHT in the orbita is unknown. It has been postulated that circulating stem cells are increased in the peripheral blood of patients with myelofibrosis. These stem cells may deposit in peripheral organs via adhesion integrin molecules and may give rise to ectopic hematopoietic foci. Although our patient developed orbital masses after splenectomy, it is not clear whether the formation of SEMHTs is related to splenectomy. Splenectomy may not be an important factor in the formation of SEMHTs. Moreover, splenectomy is commonly performed in patients with myelofibrosis, but the development of SEMHTs is relatively rare. Althoughthe initial imaging looks alarming, as of this writing, our patient’s disease has had a relatively benigncourse.Theremainingorbital lesionshavebeenmoreor less thesame forthepast3years,asserialcomputed tomographyhasshownnosignificant changes. In addition, the patient’s vision has remained stable. These findings suggest a benign disease. In summary, this is the first reported case, to our knowledge, of SEMHT in the orbitae. Sclerosing extramedullary hematopoietic tumors can histologically and radiologically mimic other soft tissue neoplasms. History of a myeloproliferative disorder and a high index of suspicion are important in making the diagnosis. The clinical course is relatively benign, and aggressive local therapy does not seem to be mandatory.

19 citations