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1.
Ophthalmic Genet ; 44(1): 28-34, 2023 02.
Article in English | MEDLINE | ID: mdl-36459431

ABSTRACT

BACKGROUND: Distal Arthrogryposis type 5D (DA5D) is a rare genetic disease, expressed phenotypically by skeletal and ocular abnormalities. MATERIALS AND METHODS: Two sisters, ages 42 and 46 years old, were ascertained, both diagnosed with arthrogryposis and unusual ophthalmic late expressions of the disease. They were examined and followed up by both ophthalmologists and medical geneticists. Molecular analysis was performed and population screening followed among healthy individuals of the same ethnic background who reside in the same village. RESULTS: The two sisters expressed myogenic ptosis with poor levator palpebrae function, limitation in up gaze, lagophthalmos, refractive errors, corneal scarring and vascularization along with severe distal arthrogryposis. The newly reported features were: significant lower lid retraction, causing inferior scleral show. Sanger sequencing of the coding regions of ECEL1 gene revealed a homozygous deletion of 46 bps. The carrier frequency is 1:24 (4.2% carriers) in the probands' village. CONCLUSIONS: We diagnosed two patients with DA5D carrying a homozygous pathogenic genetic variant previously reported only once. We report the late ophthalmologic manifestations of this rare disorder and emphasize the importance to recognize possible long-term ophthalmic complications. Measures are needed to diagnose this rare disorder at a younger age and to address ophthalmic and orthopedic complications that might be prevented. We revealed the causative genetic variant and a carrier frequency of 1:24 for DA5D, in the probands' village, thus enabling accurate genetic counselling and justifying genetic testing to the residents of this village as a diagnostic and preventive measure.


Subject(s)
Arthrogryposis , Humans , Adult , Middle Aged , Homozygote , Phenotype , Mutation , Arthrogryposis/diagnosis , Arthrogryposis/genetics , Consanguinity , Sequence Deletion , Metalloendopeptidases/genetics
2.
Int Forum Allergy Rhinol ; 11(2): 174-194, 2021 02.
Article in English | MEDLINE | ID: mdl-32761875

ABSTRACT

BACKGROUND: Epiphora due to refractory bicanalicular obstructions is typically managed by conjunctivodacryocystorhinostomy (CDCR) with or without the assistance of nasal endoscopy. However, the evidence for its benefit is unclear. METHODS: A systematic review of the literature on the treatment of epiphora by CDCR was performed (March 1, 2018). All studies reporting original data on patients suffering from epiphora treated with CDCR surgery were included. Primary outcomes were success and satisfaction rates. Secondary outcomes were CDCR complications. A comparison was made between the results obtained in patients undergoing CDCR with vs without assistance of nasal endoscopy. RESULTS: Fifty-four studies representing information on 2555 CDCR procedures were included in the systematic review. All the studies are case series, most of them retrospective. Lester Jones tube (LJT) is the most commonly used in CDCR (66.7%). The overall success rate with all studies included (n = 2555) was 88.9%; 90.8% (n = 890) in CDCR with assistance of nasal endoscope and 87.7% (n = 1575) in the non-endoscopic approach. The overall "tube displacement" rate, the most common complication, was 24.5% (n = 2522), 20.8% (n = 1575) tube displacement in CDCR with assistance of nasal endoscope vs 26.7% (n = 1575) in the non-endoscopic approach. Only 3 studies (5.5%) used patient-reported outcome measures (PROMs) to evaluate epiphora improvement. Due to the low level of evidence and the high bias of the studies, a meta-analysis was not performed. CONCLUSION: Based on the data available in the literature, CDCR is considered an effective procedure for treating epiphora due to proximal obstruction. Controlled and qualitative studies are needed to clarify the significance of the endoscope's contribution to CDCR.


Subject(s)
Dacryocystorhinostomy , Lacrimal Duct Obstruction , Conjunctiva/surgery , Endoscopy , Humans , Lacrimal Duct Obstruction/therapy , Retrospective Studies , Treatment Outcome
4.
Arch Ophthalmol ; 125(7): 889-92, 2007 Jul.
Article in English | MEDLINE | ID: mdl-17620566

ABSTRACT

OBJECTIVE: To evaluate the causes of inadvertent intraocular injuries resulting from the use of cannulas during anterior segment surgery. Method Retrospective review of all cases with inadvertent release of irrigation and viscoelastic cannulas during anterior segment surgery in 15 years. RESULTS: Inadvertent release of cannulas occurred in 9 of 10 230 cases of anterior segment surgery during a 15-year period. The incidence of cannula release was 0.88 per 1000 procedures per year. Twenty percent of the surgeons who performed anterior segment surgery in this period were involved in this unfortunate event. Six cases occurred during cataract extraction and 3 during penetrating keratoplasty or replacement of corneal graft. The latter 3 cases included posterior capsule rupture and vitreous loss. Macular scar in 2 (22%) of the 9 cases was associated with poor visual outcome of counting fingers at 2.1 to 3.0 m (P = .03). In all other surgeries, the cannula caused iris or anterior chamber angle injury without consequences. CONCLUSIONS: Inadvertent release of cannulas during anterior segment surgery is a rare, memorable, and unfortunate event. The severity of the injury may be related to the type of the surgical wound. In most cases, visual outcome is not compromised unless the cannula causes retinal disruption.


Subject(s)
Anterior Eye Segment/surgery , Catheterization/adverse effects , Eye Injuries/classification , Eye Injuries/etiology , Intraoperative Complications , Aged , Cataract Extraction , Eye Injuries/surgery , Female , Humans , Iatrogenic Disease , Male , Middle Aged , Retrospective Studies , Therapeutic Irrigation/adverse effects
5.
Graefes Arch Clin Exp Ophthalmol ; 243(8): 758-62, 2005 Aug.
Article in English | MEDLINE | ID: mdl-15756575

ABSTRACT

BACKGROUND: One of the indications for dacryocystorhinostomy (DCR) in children with congenital nasolacrimal duct obstruction (CNLDO) is failure of silicone intubation. We evaluated the course of epiphora after failure of silicone intubation for CNLDO when DCR was not performed. METHODS: In a comparative cohort study carried out at a tertiary referral center, ten eyes of seven consecutive children who had failure of silicone intubation manifested as persistent epiphora over 2 months and whose parents refused DCR were followed up for an average of 50.4 months (range 33-70 months). Three lacrimal drainage systems of three other children who had failure of silicone intubation underwent uneventful DCR. RESULTS: In eight (80%) of the ten consecutive eyes with congenital nasolacrimal duct obstruction (six of the seven children, 86%), there was spontaneous complete resolution of the epiphora and normal dye disappearance test (DDT) at the end of the follow-up period. One child with Down's syndrome, allergic rhinitis, asthma and multiple site obstructions had improvement of symptoms but abnormal DDT. The epiphora in all three children who underwent DCR had disappeared by 6 months after surgery when the silicone tube was removed. No complications were noted during the follow-up. CONCLUSIONS: Epiphora can spontaneously resolve after failure of silicone intubation in CNLDO, and DCR should no longer considered be compulsory in such cases unless complications evolve.


Subject(s)
Intubation , Lacrimal Apparatus Diseases/physiopathology , Lacrimal Duct Obstruction/physiopathology , Nasolacrimal Duct/physiopathology , Child, Preschool , Dacryocystorhinostomy , Female , Humans , Infant , Lacrimal Duct Obstruction/congenital , Male , Silicone Elastomers
6.
Am J Ophthalmol ; 138(3): 499-501, 2004 Sep.
Article in English | MEDLINE | ID: mdl-15364246

ABSTRACT

PURPOSE: To describe congenital eyelid imbrication syndrome and its possible pathophysiology. DESIGN: Clinical observational case report. METHODS: A full-term newborn was examined after a vaginal delivery and uneventful pregnancy. RESULTS: The upper eyelids were overlapping the lower eyelids when the eyes were closed or when the newborn was asleep. The upper eyelids resumed normal position gradually over a week without causing any symptoms or residual sequelae. CONCLUSIONS: Eyelid imbrication syndrome is a rare cause of congenital eyelid malposition. It may be caused by inborn laxity of the upper medial and lateral canthal tendons that are tightened during the postnatal period, causing resolution of this condition.


Subject(s)
Eyelid Diseases/congenital , Eyelids/abnormalities , Eyelid Diseases/physiopathology , Eyelids/physiopathology , Female , Humans , Infant, Newborn , Syndrome
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