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Perception of patient appearance following various methods of reconstruction after orbital exenteration.
Orbit. 2016 Jun 24;:1-6
Authors: Kuiper JJ, Zimmerman MB, Pagedar NA, Carter KD, Allen RC, Shriver EM
This article compares the perception of health and beauty of patients after exenteration reconstruction with free flap, eyelid-sparing, split-thickness skin graft, or with a prosthesis. Cross-sectional evaluation was performed through a survey sent to all students enrolled at the University of Iowa Carver College of Medicine. The survey included inquiries about observer comfort, perceived patient health, difficulty of social interactions, and which patient appearance was least bothersome. Responses were scored from 0 to 4 for each method of reconstruction and an orbital prosthesis. A Friedman test was used to compare responses among each method of repair and the orbital prosthesis for each of the four questions, and if this was significant, then post-hoc pairwise comparison was performed with p values adjusted using Bonferroni's method. One hundred and thirty two students responded to the survey and 125 completed all four questions. Favorable response for all questions was highest for the orbital prosthesis and lowest for the split-thickness skin graft. Patient appearance with an orbital prosthesis had significantly higher scores compared to patient appearance with each of the other methods for all questions (p value < 0.0001). Second highest scores were for the free flap, which were higher than eyelid-sparing and significantly higher compared to split-thickness skin grafting (p value: Question 1: < 0.0001; Question 2: 0.0005; Question 3: 0.006; and Question 4: 0.019). The orbital prosthesis was the preferred post-operative appearance for the exenterated socket for each question. Free flap was the preferred appearance for reconstruction without an orbital prosthesis. Split-thickness skin graft was least preferred for all questions.
PMID: 27341072 [PubMed - as supplied by publisher]
Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos.
Mol Vis. 2015;21:1017-23
Authors: Khorram D, Choi M, Roos BR, Stone EM, Kopel T, Allen R, Alward WL, Scheetz TE, Fingert JH
PURPOSE: Autosomal dominant nanophthalmos is an inherited eye disorder characterized by a structurally normal but smaller eye. Patients with nanophthalmos have high hyperopia (far-sightedness), a greater incidence of angle-closure glaucoma, and increased risk of surgical complications. In this study, the clinical features and the genetic basis of nanophthalmos were investigated in two large autosomal dominant nanophthalmos pedigrees.
METHODS: Fourteen members of a Caucasian pedigree from the United States and 15 members of a pedigree from the Mariana Islands enrolled in a genetic study of nanophthalmos and contributed DNA samples. Twenty of 29 family members underwent eye examinations that included measurement of axial eye length and/or refractive error. The genetic basis of nanophthalmos in the pedigrees was studied with linkage analysis, whole exome sequencing, and candidate gene (i.e., TMEM98) sequencing to identify the nanophthalmos-causing gene.
RESULTS: Nine members of the pedigree from the United States and 11 members of the pedigree from the Mariana Islands were diagnosed with nanophthalmos that is transmitted as an autosomal dominant trait. The patients with nanophthalmos had abnormally short axial eye lengths, which ranged from 15.9 to 18.4 mm. Linkage analysis of the nanophthalmos pedigree from the United States identified nine large regions of the genome (greater than 10 Mbp) that were coinherited with disease in this family. Genes within these "linked regions" were examined for disease-causing mutations using exome sequencing, and a His196Pro mutation was detected in the TMEM98 gene, which was recently reported to be a nanophthalmos gene. Sanger sequencing subsequently showed that all other members of this pedigree with nanophthalmos also carry the His196Pro TMEM98 mutation. Testing the Mariana Islands pedigree for TMEM98 mutations identified a 34 bp heterozygous deletion that spans the 3' end of exon 4 in all affected family members. Neither TMEM98 mutation was detected in public exome sequence databases.
CONCLUSIONS: A recent report identified a single TMEM98 missense mutation in a nanophthalmos pedigree. Our discovery of two additional TMEM98 mutations confirms the important role of the gene in the pathogenesis of autosomal dominant nanophthalmos.
PMID: 26392740 [PubMed - indexed for MEDLINE]
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