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European Journal of Medical Genetics Jul 2019Ophthalmo-acromelic syndrome is a rare autosomal recessive disorder characterized by ocular and skeletal abnormalities. Ocular findings present as a wide spectrum,... (Review)
Review
Ophthalmo-acromelic syndrome is a rare autosomal recessive disorder characterized by ocular and skeletal abnormalities. Ocular findings present as a wide spectrum, ranging from mild microphthalmia to true anophthalmia. Short 5th finger, synostosis of 4th and 5th metacarpals, and oligodactyly in feet are frequent limb malformations. Homozygous variants in the SMOC1 gene (SPARC-related modular calcium-binding protein 1 gene) were identified as causative for the syndrome. A 9-month-old female patient is presented herein, who was diagnosed with ophthalmo-acromelic syndrome and had a homozygous nonsense mutation (p.Arg75Ter) in SMOC1, along with a review of the literature.
Topics: Codon, Nonsense; Female; Homozygote; Humans; Infant; Osteonectin; Waardenburg Syndrome
PubMed: 31067494
DOI: 10.1016/j.ejmg.2019.05.003 -
Acta Ophthalmologica May 2022To investigate medical conditions and systemic therapies associated with orbital implant exposure in patients with anophthalmic sockets.
PURPOSE
To investigate medical conditions and systemic therapies associated with orbital implant exposure in patients with anophthalmic sockets.
METHODS
Retrospective review of patients who underwent enucleation or evisceration at a single centre between January 1, 2008 and March 1, 2018. Medical comorbidities, including peripheral or coronary artery disease, rheumatologic conditions, diabetes, malignancy and history of smoking were recorded. Use of immunomodulatory and anticoagulation therapy at the time of eye removal was noted. Patients were divided into two groups-those with implant exposure and those without. Univariate and multivariate analysis was used to compare groups.
RESULTS
Two hundred and twenty-nine patients underwent eye removal surgery over a ten-year period. Implant exposure was seen in 20 (8.7%) patients. Univariate analysis revealed a statistically significant difference between groups in rates of smoking, malignancy, and immunomodulatory therapy at the time of surgery. A history of smoking (HR = 11.72; 95% CI: 2.95, 46.53; p = 0.0001) and immunomodulatory therapy (HR = 8.02; 95% CI: 1.96, 32.87; p = 0.004) were independent predictors of exposure. The probability of exposure was 81.2% when all three risk factors were present versus 4.4% when none were present (c-index = 0.737, 95% CI: 0.608, 0.865; p < 0.001). The model was a good fit to the data (Hosmer-Lemeshow goodness-of-fit test p = 0.475).
CONCLUSIONS
Smoking and immunomodulatory therapy were associated with orbital implant exposure in patients with anophthalmic sockets. This is the first report examining medical comorbidities in patients with orbital implant exposure. Understanding the pathophysiology of implant exposure is crucial to preoperative planning and postoperative care.
Topics: Anophthalmos; Eye Enucleation; Eye Evisceration; Humans; Orbital Implants; Postoperative Complications; Prosthesis Implantation; Retrospective Studies
PubMed: 34233090
DOI: 10.1111/aos.14973 -
Indian Journal of Ophthalmology Jul 2021Anophthalmic sockets cause disfigurement that may result in emotional and social distress. The choice of procedure and implant is based upon the surgeon's experience.... (Observational Study)
Observational Study
PURPOSE
Anophthalmic sockets cause disfigurement that may result in emotional and social distress. The choice of procedure and implant is based upon the surgeon's experience. There remains no standardization of cosmetic result. We sought to identify quantifiable anatomical features and functional properties related to a successful cosmetic result in patients with ocular prosthesis and to determine correlations between self-reported and third-party assessment of cosmetic success.
METHODS
This was a prospective observational study, which included 107 adult patients (50.1% female; age 53.08 ± 18.64 years, range 18-89) with acquired anophthalmia following prosthesis fitting. Patients completed a self-assessment questionnaire on self-perception of body image and ocular properties. Three independent examiners assessed cosmetic score. Assessed variables included prosthesis movement, eyelid symmetry, prosthesis stability, and socket fullness.
RESULTS
The general cosmetic result was 8.1 ± 2.19 (on a predetermined scale of 1-10) as perceived by the patients and 7.2 ± 0.19 by the examiners. Interexaminer correlation was high for all variables (P < 0.05). A good cosmetic result was correlated with prosthesis movement (P = 0.02), eyelid symmetry (P = 0.001), and prosthesis stability (P = 0.01). Factors that correlated with a good cosmetic result on multivariate analysis were prosthesis movement (odds ratio [OR] 4.95, P = 0.004), eyelid symmetry (OR 4.51, P = 0.006), and socket fullness (OR 3.56, P = 0.005). No correlation was observed between patients' perceptions of the overall cosmetic result and those of the examiners.
CONCLUSION
The cosmetic result of prosthesis use among anophthalmic patients is generally good, as perceived by both patients and examiners. Good eyelid position and symmetry, orbital fullness, and prosthesis motility were associated with a better cosmetic result.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Anophthalmos; Eye Diseases; Eye, Artificial; Eyelids; Female; Humans; Male; Middle Aged; Orbital Implants; Prosthesis Implantation; Young Adult
PubMed: 34146048
DOI: 10.4103/ijo.IJO_2682_20 -
Acta Ophthalmologica Dec 2020Congenital anophthalmia (A) and microphthalmia (M) are rare developmental defects, which could be isolated or syndromic. Our objective was to describe a cohort of...
PURPOSE
Congenital anophthalmia (A) and microphthalmia (M) are rare developmental defects, which could be isolated or syndromic. Our objective was to describe a cohort of children and young adults with A/M treated with ocular prosthesis, emphasizing clinical features, diagnosis, treatment, and follow-up.
METHODS
Eighteen individuals (10 female) with unilateral A (n = 3) and M (n = 15) with a mean age of 9.5 years (range 0.8-31.8) and treated with ocular prosthesis were included. Data on medical history, clinical examinations and management of ocular prosthesis were collected. Genetic screening with microarray and whole-exome sequencing targeting 121 A/M-related genes was performed.
RESULTS
A/M appeared isolated (seven cases) or as part of a syndromic condition (11 cases). In 4/16 patients, mutations were detected in TFAP2A, CHD7, FOXE3 and BCOR-genes. In one patient, a possibly causal microdeletion 10q11 was shown. Associated ocular anomalies such as cataract and cysts were found in 16 (89%) of the A/M eyes, and in nine (50%) ophthalmological findings were found in the fellow eyes. The median ages at which the conformer and ocular prosthesis first were initiated were 7.8 months and 1.5 years. 16/17 patients fulfilled satisfactory orbital growth and cosmetic results when treated with ocular prosthesis from an early age.
CONCLUSION
Based upon our findings, a multidisciplinary approach, including genetic assessment, is necessary to cover all aspects of A/M. Imaging, ultrasound and visual evoked potentials should be included. Early management is crucial for the outcome, in terms of non-ocular findings, vision in the fellow eye, and for facial cosmetic development.
Topics: Adolescent; Adult; Anophthalmos; Child; Child, Preschool; Disease Management; Female; Humans; Infant; Male; Microphthalmos; Phenotype; Prognosis; Young Adult
PubMed: 32436650
DOI: 10.1111/aos.14427 -
The Journal of Craniofacial SurgeryThe aim of this study was to report management and outcomes of patients in which conjunctival carcinomas arose in the anophthalmic socket.
PURPOSE
The aim of this study was to report management and outcomes of patients in which conjunctival carcinomas arose in the anophthalmic socket.
METHODS
The authors retrospectively analyzed the data of patients which presented the anophthalmic socket after surgery. The clinical records of 4 patients with histological diagnosis of conjunctival carcinoma in the anophthalmic socket, referred to our Department, between January 2014 and December 2019 was collected.
RESULTS
The study included 4 men (median age 58 years). A previous enucleation surgery had been performed in all patients due to previous ocular trauma for three patients (Case 1, 3, and 4) and due to a retinoblastoma for 1 patient (Case 2). All patients underwent surgical excision of the lesion and only 1 patient (case 3) underwent orbital exenteration due to the high-grade of the cancer. The most common tumor was the squamous cell carcinoma (2 cases) followed by 1 case of high-grade mucoepidermoid carcinoma and 1 case of carcinoma in situ. Systemic work-up was performed for all the patients. Conjunctival TNM, according to the American Joint Committee on Cancer TNM staging system was used to stage the lesions. The median follow-up time was 15 months.
CONCLUSION
Considering the severity and rarity of these tumors, a careful ophthalmological examination of the cavity and a correct revision of the prosthesis should be mandatory in order to ensure the elimination of any macro and microscopic irregularities that can then in the long-term cause chronic inflammation of the tissues and consequently promote the growth of carcinomas.
Topics: Anophthalmos; Carcinoma, Squamous Cell; Eye Enucleation; Humans; Male; Middle Aged; Orbital Implants; Retinal Neoplasms; Retrospective Studies
PubMed: 33705043
DOI: 10.1097/SCS.0000000000006819 -
Ophthalmic Genetics Dec 2023Cryptophthalmos is a rare congenital condition caused by anomalous eyelid development where the eyelid folds do not develop or fail to separate. Cryptophthalmos can be...
PURPOSE
Cryptophthalmos is a rare congenital condition caused by anomalous eyelid development where the eyelid folds do not develop or fail to separate. Cryptophthalmos can be unilateral or bilateral and can occur in isolation or as part of an underlying syndrome. We aim to identify genetic syndromes associated with cryptophthalmos to facilitate genetic diagnosis.
METHODS
We performed a retrospective medical record review of all patients diagnosed with cryptophthalmos followed at a single center between 2000 and 2020. The analysis included medical history, clinical examination findings, and genetic testing results.
RESULTS
Thirteen patients were included, 10 (77%) males, mean age of 2.4 years. Eight (61%) had bilateral cryptophthalmos, and 4 (31%) had complete cryptophthalmos. Associated ocular abnormalities included corneal opacities (13/13, 100%), upper eyelid colobomas (12/13, 92%), and microphthalmia/clinical anophthalmia (3/13, 23%). All cases of complete cryptophthalmos had bilateral disease. An underlying clinical or molecular diagnosis was identified in 10/13 (77%) cases, including Fraser syndrome ( = 5), amniotic band syndrome ( = 1), -related disease ( = 1), Goldenhar versus Schimmelpenning syndrome ( = 1), MOTA syndrome ( = 1), and -related disease ( = 1).
CONCLUSION
This is the first report of a possible association between cryptophthalmos and biallelic variants. Children with cryptophthalmos, especially those with extra-ocular involvement, should be referred for comprehensive genetic evaluation.
Topics: Infant, Newborn; Child; Male; Humans; Child, Preschool; Female; Microphthalmos; Retrospective Studies; Syndrome; Anophthalmos; Eyelids; Rare Diseases
PubMed: 37493047
DOI: 10.1080/13816810.2023.2237568 -
Klinische Monatsblatter Fur... Jan 2022Report of clinical findings relating to the lacrimal system in congenital clinical anophthalmos and severe blind microphthalmos (MAC-complex patients).
BACKGROUND
Report of clinical findings relating to the lacrimal system in congenital clinical anophthalmos and severe blind microphthalmos (MAC-complex patients).
METHODS
A retrospective study of the notes of 207 consecutive patients treated surgically at least once with highly hydrophilic self-inflating expanders for MAC between 1998 and 2021. The lacrimal drainage system was always probed and irrigated under general anaesthesia before any other procedure was started.
RESULTS
64 patients were excluded due to possible misdiagnosis because of previous lid or orbit surgery elsewhere or due to missing data. The analysis therefore included 67 girls and 76 boys aged between 1 and 126 months (median age: 5 months). 72 patients presented with unilateral and 42 with bilateral anophthalmos, and 24 had unilateral and 5 bilateral microphthalmos; consequently, 286 orbits (of which, 190 with probable pathology) were available for assessment. In unilateral cases the lacrimal system on the normal side was never affected. On the anophthalmic or microphthalmic side the lacrimal system was normal in 68 orbits only (35.8%). The most frequent finding was canalicular stenosis (91 orbits; 48%). Common canaliculus stenosis was observed in 12 orbits (6.3%) and nasolacrimal duct obstruction in 9 orbits (4.7%). There were four cases of punctal aplasia, but no other anomalies. In unilateral MAC pathologic findings during lacrimal probing were found to be associated with anatomical malformation of the contralateral fellow eye. Only in unilateral anophthalmos there was a significant association with cleft lip and palate, which was not found in the three other groups.
CONCLUSIONS
In congenital clinical anophthalmos the lacrimal system is affected in up to 66.5% of cases, mostly due to canalicular stenosis. Even if there is no clear evidence of an embryological connection, this association is certainly not a random finding.
Topics: Anophthalmos; Child; Child, Preschool; Cleft Lip; Cleft Palate; Dacryocystorhinostomy; Female; Humans; Infant; Lacrimal Duct Obstruction; Male; Microphthalmos; Nasolacrimal Duct; Retrospective Studies
PubMed: 35120378
DOI: 10.1055/a-1721-2375 -
Journal of Prosthodontics : Official... Dec 2022Orbital epitheses replace a missing eyeball and surrounding soft tissue. Perception of epithesis in public gaze and the attention areas on the face are of interest. This...
PURPOSE
Orbital epitheses replace a missing eyeball and surrounding soft tissue. Perception of epithesis in public gaze and the attention areas on the face are of interest. This study aimed to examine the differences in perception of orbital epitheses by prosthodontists, dentistry students, and laypeople with an objective evaluation tool that utilized eye-tracking technology.
MATERIALS AND METHODS
Twenty-four frontal facial images of 12 patients who had orbital epitheses were viewed by 81 observers (prosthodontists, dentistry students, laypeople) in random order for 5 seconds each. Gaze data were analyzed. Kruskal-Wallis H test with Bonferroni correction was used to compare parameters in groups and areas of interest.
RESULTS
First fixation duration at the mouth for symmetrical images were 0.30, 0.28, and 0.25 seconds for prosthodontists, students, and laypeople, respectively. Fixation duration at the mouth for the laypeople (0.27 second) was shorter than students (0.29 second) and prosthodontists (0.31 second) at symmetrical images. Time to the first fixation to epithesis, nose, and eye was significantly lower than the forehead and mouth for all groups. Fixation count at epithesis was 6.36 for prosthodontists, 5.64 for students, and 5.34 for laypeople.
CONCLUSION
Eyes were of most significant interest for all observer groups in symmetrical images. Individuals dealing with dentistry, especially prosthodontists, paid more attention to the mouth region along with the eyes in symmetrical images, considering fixation duration and fixation count. Attention directed to epithesis by all groups was verified with objective and measurable criteria. Prosthodontists' attention to epithesis and mouth was evident considering the four parameters measured.
Topics: Humans; Face; Mouth; Nose; Anophthalmos; Perception
PubMed: 35909303
DOI: 10.1111/jopr.13578 -
Secreted modular calcium-binding proteins in pathophysiological processes and embryonic development.Chinese Medical Journal Oct 2019Secreted modular calcium-binding proteins (SMOCs) are extracellular glycoproteins of the secreted protein, acidic, and rich in cysteine-related modular calcium-binding... (Review)
Review
OBJECTIVE
Secreted modular calcium-binding proteins (SMOCs) are extracellular glycoproteins of the secreted protein, acidic, and rich in cysteine-related modular calcium-binding protein family and include two isoforms, SMOC1 and SMOC2, in humans. Functionally, SMOCs bind to calcium for various cell functions. In this review, we provided a summary of the most recent advancements in and findings of SMOC1 and SMOC2 in development, homeostasis, and disease states.
DATA SOURCES
All publications in the PubMed database were searched and retrieved (up to July 24, 2019) using various combinations of keywords searching, including SMOC1, SMOC2, and diseases.
STUDY SELECTION
All original studies and review articles of SMOCs in human diseases and embryo development written in English were retrieved and included.
RESULTS
SMOC1 and SMOC2 regulate embryonic development, cell homeostasis, and disease pathophysiology. They play an important role in the regulation of cell cycle progression, cell attachment to the extracellular matrix, tissue fibrosis, calcification, angiogenesis, birth defects, and cancer development.
CONCLUSIONS
SMOC1 and SMOC2 are critical regulators of many cell biological processes and potential therapeutic targets for the control of human cancers and birth defects.
Topics: Calcification, Physiologic; Calcium-Binding Proteins; Cell Adhesion; Cell Cycle; Embryonic Development; Homeostasis; Humans; Inflammation; Neoplasms; Neovascularization, Physiologic; Osteonectin; Waardenburg Syndrome
PubMed: 31613820
DOI: 10.1097/CM9.0000000000000472 -
Birth Defects Research Feb 2023Nausea and vomiting of pregnancy (NVP) occurs in approximately 70% of pregnant people. Treatments include pharmacologic and herbal/natural products. Research on the...
BACKGROUND
Nausea and vomiting of pregnancy (NVP) occurs in approximately 70% of pregnant people. Treatments include pharmacologic and herbal/natural products. Research on the associations between NVP and its treatments and birth defects is limited.
METHODS
We used data from the case-control National Birth Defects Prevention Study (1997-2011) to examine whether first-trimester NVP or its specific treatments were associated with 37 major birth defects. Odds ratios (aOR) and 95% confidence intervals (CIs) were adjusted for sociodemographic and reproductive factors.
RESULTS
Mothers of 66.6% of 28,628 cases and 69.9% of 11,083 controls reported first-trimester NVP. Compared to no NVP, mothers with NVP had ≥10% reduction in risk of cardiac and noncardiac defects overall, and of 18 specific defects. Over-the-counter antiemetic use, compared to untreated NVP, was associated with ≥10% increase in risk for nine defect groups (heterotaxy, hypoplastic left heart syndrome [HLHS], aortic stenosis, cataracts, anophthalmos/microphthalmos, biliary atresia, transverse limb deficiency, omphalocele, and gastroschisis), whereas use of prescription antiemetics increased risk ≥10% for seven defect groups (tetralogy of Fallot, HLHS, spina bifida, anopthlamos/microphthalmos, cleft palate, craniosynostosis, and diaphragmatic hernia). We observed increased risks for promethazine and tetralogy of Fallot (aOR: 1.49, 95% CI: 1.05-2.10), promethazine and craniosynostosis (1.44, 1.08-1.92), ondansetron and cleft palate (1.66, 1.18-2.31), pyridoxine and heterotaxy (3.91, 1.49-10.27), and pyridoxine and cataracts (2.57, 1.12-5.88).
CONCLUSIONS
NVP does not increase risks of birth defects. Our findings that some treatments for NVP increase risk of specific birth defects should be investigated further before clinical recommendations are made.
Topics: Pregnancy; Female; Humans; Cleft Palate; Promethazine; Microphthalmos; Pyridoxine; Tetralogy of Fallot; Vomiting; Nausea; Pregnancy Complications; Craniosynostoses
PubMed: 36168701
DOI: 10.1002/bdr2.2096