A Novel Mutation in the ADAMTS10 Associated with Weil-Marchesani Syndrome with a Unique Presentation of Developed Membranes Causing Severe Stenosis of the Supra Pulmonic, Supramitral, and Subaortic Areas in the Heart.

Weill-Marchesani syndrome (WMS) is a rare genetic inherited disorder with autosomal recessive and dominant modes of inheritance. WMS is characterized by the association of short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia and ectopia of the lenses, and, occasionally, heart defects. We investigated the genetic cause of a unique and novel presentation of heart-developed membranes in the supra-pulmonic, supramitral, and subaortic areas, creating stenosis that recurred after their surgical resection in four patients from one extended consanguineous family. The patients also presented ocular findings consistent with Weill-Marchesani syndrome (WMS). We used whole exome sequencing (WES) to identify the causative mutation and report it as a homozygous nucleotide change c. 232T>C causing p. Tyr78His in ADAMTS10. ADAMTS10 (ADAM Metallopeptidase with Thrombospondin Type 1 Motif 10) is a member of a family of zinc-dependent extracellular matrix protease family. This is the first report of a mutation in the pro-domain of ADAMTS10. The novel variation replaces a highly evolutionary conserved tyrosine with histidine. This change may affect the secretion or function of ADAMTS10 in the extracellular matrix. The compromise in protease activity may thus cause the unique presentation of the developed membranes in the heart and their recurrence after surgery.

Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes.

Congenital insensitivity to pain (CIP) is a group of rare genetic disorders with a common characteristic of absent sensation to nociceptive pain. Here we present a series of six patients; three had a novel variant in the PRDM12 gene (group A), and three had a missense variant in the SCN9A gene (group B). We compared the ocular manifestations between the two groups. Records of these patients from 2009 through 2018 were reviewed. The retrieved data included demographics, genetic analysis results, ocular history and ophthalmic findings including visual acuity, corneal sensitivity, tear production, ocular surface findings, cycloplegic refraction, and fundoscopy. We found that patients with PRDM12 variant had more severe manifestations of ocular surface disease, with more prevalent corneal opacities and worse visual acuity, compared to patients with SCN9A variant.

Ocular manifestations of congenital insensitivity to pain: a long-term follow-up.

AIM: To describe ocular manifestations in children with congenital insensitivity to pain with and without anhidrosis (CIPA and CIP). METHODS: We reviewed records of eye examinations of 39 children diagnosed with CIPA or CIP. We collected clinical data, with particular attention to ocular surface findings. Corneal sensitivity was tested by presence of a blink reflex upon touching the cornea. Statistical analysis assessed differences in manifestations between the two conditions, and relationships among corneal sensitivity, presence of corneal opacities and visual acuity (VA). RESULTS: CIPA was diagnosed in 32 children and CIP in 7. The median follow-up periods were 50 months (CIPA group) and 94 months (CIP group). Corneal opacities were present in 23% of CIPA eyes and in 57% of CIP eyes. A blink reflex was positive in 52% of CIPA eyes and in 33% of CIP eyes. We recorded VA ≥20/25 in 36% of CIPA eyes, whereas all patients with CIP had VA ≤20/30. For the whole cohort, we found a negative correlation between a preserved blink reflex and the presence of corneal opacities, and a positive correlation between a preserved blink reflex and VA ≥20/25. CONCLUSION: Children with congenital insensitivity to pain are prone to develop corneal scarring. Patients with CIP tend to have more severe ocular surface disease than those with CIPA, probably due to more prevalent loss of corneal sensation. In both groups, a preserved blink reflex correlated with good vision. Affected children should have close follow-up to promptly treat ocular surface disease and prevent vision loss.

Intraocular lens implantation as an isolated risk factor for secondary glaucoma in pediatric patients.

OBJECTIVE: To evaluate the effect of intraocular lens (IOL) implantation on the development of secondary glaucoma after cataract surgery in pediatric patients. DESIGN: Retrospective case series study. METHODS: This study reviewed the medical records of children under 16 years of age who had undergone cataract surgery from 1996 to 2016 for congenital or developmental cataract. In every child an IOL was implanted in the primary surgery. Data collected included demographic information, age at cataract diagnosis and at surgery, surgical procedure, and postoperative follow-up of refraction, cup-to-disc ratio (C/D), intraocular pressure (IOP), and associated systemic and ocular anomalies. Patients with risk factors for glaucoma were excluded from the study. RESULTS: Of the 255 children below age 16 years who underwent cataract extraction surgery with primary IOL implantation, 73 (124 eyes) met the inclusion criteria. Follow-up ranged from 4 to 18 years. Only 1 patient (0.8% of the 124 eyes) developed glaucoma in 1 of his 2 operated eyes; the surgeries were performed at 10 months, 1 week apart, and glaucoma was diagnosed 4 months later. One patient had suspected glaucoma in both eyes (incidence of 1.6%). Both these children were of Bedouin origin. CONCLUSION: IOL implantation, by itself, is not a risk factor for development of secondary glaucoma after cataract surgery in a population below 16 years of age.

Measuring recovery of visual function in children with papilledema using sweep visual evoked potentials.

PURPOSE: To assess visual function in children with papilledema using sweep visual evoked potentials (VEP) to determine whether vision function improved following treatment. METHODS: Contrast sensitivity and grating acuity were prospectively measured by using sweep visual evoked potential testing in children with mild or moderate acute papilledema. A subset of children were tested longitudinally before and after treatment. Subject data was compared with that of age-matched controls using the Wilcoxon-Mann-Whitney test. RESULTS: A total of 9 subjects (age range, 9-16 years) and 11 controls were included; 5 subjects were studied longitudinally. The control group's logMAR grating acuity (mean, 0.09; range, -0.13 to 0.36) was better than that of the papilledema group (mean, 0.36; range 0.15-0.59). Four patients showed recovery of contrast sensitivity following treatment of their raised intracranial pressure between first and last visit. CONCLUSIONS: In our study cohort, sweep VEP was able to detect early improvement in contrast sensitivity despite absence of apparent clinical change in disk edema in children undergoing treatment for raised intracranial pressure.

Open globe eye injury characteristics and prognostic factors in southern Israel: a retrospective epidemiologic review of 10 years experience.

BACKGROUND: Open globe injury (OGI) is a common cause of unilateral visual loss in all age groups. OBJECTIVES: To describe and identify clinical characteristics, prognostic factors and visual outcome in a group of patients with OGI in southern Israel. METHODS: We conducted a retrospective review of all cases of OGI examined in the ophthalmology department at Soroka University Medical Center, Beer Sheva, Israel, from 1996 to 2005. A total of 118 eyes with OGI were detected and analyzed statistically. We recorded demographic data, cause of injury, initial visual acuity (VA), associated globe morbidity and injuries, Ocular Trauma Score (OTS), surgical procedures, postoperative complications, and final VA. RESULTS: The mean age of the study group was 36.1 years and included 84% males. The median follow-up was 13.3 months (range 6-66 months). The annual incidence of open globe injuries was 3.1 cases/100,000. In 84 cases (71%) the mechanism of open eye injury was laceration. Most of the injuries were work related (45%). Bilateral injury was observed in two patients. An intraocular foreign body was observed in 45 eyes (38%). Primary surgical repair was performed in 114 eyes. Six patients (5.1%) had complications with posttraumatic endophthalmitis and 12 patients (10.1%) underwent evisceration or enucleation. Clinical signs associated with poor visual outcomes included reduced initial VA, eyelid injury, and retinal detachment at presentation. CONCLUSIONS: In our study population the most important prognostic factors in open globe injury were initial VA, eyelid injury and retinal detachment.

The influence of an auditory-memory attention-demanding task on postural control in blind persons.

BACKGROUND: In order to evaluate the effect of an auditory-memory attention-demanding task on balance control, nine blind adults were compared to nine age-gender-matched sighted controls. This issue is particularly relevant for the blind population in which functional assessment of postural control has to be revealed through "real life" motor and cognitive function. The study aimed to explore whether an auditory-memory attention-demanding cognitive task would influence postural control in blind persons and compare this with blindfolded sighted persons. METHODS: Subjects were instructed to minimize body sway during narrow base upright standing on a single force platform under two conditions: 1) standing still (single task); 2) as in 1) while performing an auditory-memory attention-demanding cognitive task (dual task). Subjects in both groups were required to stand blindfolded with their eyes closed. Center of Pressure displacement data were collected and analyzed using summary statistics and stabilogram-diffusion analysis. FINDINGS: Blind and sighted subjects had similar postural sway in eyes closed condition. However, for dual compared to single task, sighted subjects show significant decrease in postural sway while blind subjects did not. INTERPRETATION: The auditory-memory attention-demanding cognitive task had no interference effect on balance control on blind subjects. It seems that sighted individuals used auditory cues to compensate for momentary loss of vision, whereas blind subjects did not. This may suggest that blind and sighted people use different sensorimotor strategies to achieve stability.

Screening and diagnosis of optic pathway gliomas in children with neurofibromatosis type 1 by using sweep visual evoked potentials.

PURPOSE: Neurofibromatosis type 1 (NF-1) is an autosomal dominant phakomatosis with a prevalence of 1 in 2000 to 1 in 5000. Up to 24% of these patients have optic pathway gliomas (OPGs). In the present study, the use of sweep visual evoked potentials (SVEPs) was investigated as a screening tool for identifying patients with NF-1 who had OPGs by comparing them to those patients with no OPGs and to normally developing children. METHODS: Contrast sensitivity and grating acuity were measured with the SVEP. Sixteen children with OPGs (OPG group), 14 children with NF-1 without OPGs (nOPG), and 16 aged-matched control subjects were recruited. All participants had best-corrected visual acuity of 6/9 or better. All were tested monocularly. RESULTS: Comparisons between groups by using the Tukey B test showed a significant reduction of mean log contrast sensitivity in the OPG group (1.55) compared with the nOPG (1.9, P = 0.006) and control (2.10, P < 0.001) group. There was no significant difference between the nOPG and control groups (P = 0.195). Grating acuity was comparable between groups, and no statistically significant differences were found. Log contrast sensitivity was moderately sensitive in identifying patients with OPG and was highly specific in screening out patients with no OPG. CONCLUSIONS: Children with OPGs have reduced contrast sensitivity when assessed using the SVEP. Children with no OPGs display no differences in visual functioning compared with control subjects. The findings suggest that the SVEP can be a useful and noninvasive screening tool for early detection of visual pathway gliomas in children with NF-1 and normal visual acuity.

Topiramate-induced bilateral angle-closure glaucoma.

CASE REPORT: We present an interventional case report of a rare occurrence of acute angle-closure glaucoma in a 35-year-old woman presenting 1 week after start of oral topiramate therapy for depression. Intraocular pressure measured 57 mm Hg OD and 56 mm Hg OS, and bilateral shallow anterior chamber and closed angles were observed. Ultrasound disclosed ciliochoroidal detachment, a closed angle with a forward shift of the lens, and swollen ciliary processes. Topiramate treatment was stopped. Antiglaucoma treatment was started and quickly tapered. After 5 days, examination showed deep anterior chambers and normal intraocular pressures with no medication. COMMENTS: Topiramate use can result in acute bilateral angle-closure glaucoma, which is usually reversible if the drug is discontinued. Patients starting topiramate therapy need to be informed of this potential risk.

Isolated congenital histiocytosis in the palpebral conjunctiva in a newborn.

PURPOSE: To report a rare case of congenital histiocytosis in a newborn without skin involvement. DESIGN: Interventional case-report. METHODS: A full-term baby presented with a mass over the palpebral conjunctiva of his left upper lid. Ophthalmic examination was otherwise normal, and the baby was healthy. There were no skin lesions. RESULTS: The lesion was completely removed surgically. Pathologic examination demonstrated a cellular infiltrate composed of eosinophils and histiocytes. Immunohistochemistry disclosed positive stain for protein S-100 and CD1 antigenic determinant. Pediatric oncology evaluation was completely normal. Eighteen months after presentation, the patient remained healthy without recurrence of the lesion. CONCLUSIONS: Rare cases of congenital histiocytosis can present as a solitary lesion over the palpebral conjunctiva, without skin or systemic involvement.

The effect of the Dead Sea environment on uveitis.

BACKGROUND: Uveitis is an acute or chronic inflammatory process of the uvea caused by a number of etiologies. In many patients the etiology is unknown. OBJECTIVE: To investigate the effect of the Dead Sea environment (climatotherapy) on the signs, symptoms and clinical course of chronic uveitis. METHODS: Fifty-five patients with chronic uveitis were examined at the beginning and end of a 3-4 week stay at the Dead Sea region and on repeat visits to the region. Study data included demographic information, medical history, etiology, diagnosis, medication, and a complete ophthalmic examination. RESULTS: Statistically significant improvements were seen between the two examinations within each visit in four parameters (negative values indicate improvement): a) visual acuity for near and far: Jaeger (-0.98 +/- 0.18, P < or = 0.001) and best corrected visual acuity (-0.22 +/- 0.04, P < or = 0.0001); b) anterior chamber flare (-0.18 +/- 0.06, P < or = 0.01); c) anterior chamber cells (-0.12 +/- 0.03, P < or = 0.0001); and d) vitreous cells (-0.17 +/- 0.05, P < or = 0.001). There was a significant mean improvement during visits to the Dead Sea area and a slight dissipation of the effect during the intervals between visits. Sixty-four percent of the patients reported that they required less medication and had fewer and milder attacks of uveitis following the visits. CONCLUSIONS: The results of this study provide evidence of short- and possibly long-term improvement in the signs and symptoms of uveitis following exposure to the Dead Sea environment.

Simultaneous bilateral cataract surgery.

PURPOSE: To evaluate the safety and outcomes of simultaneous bilateral cataract surgery (SBCS). SETTING: York Finch Eye Associates and Humber River Regional Hospital, Toronto, Ontario, Canada. METHODS: This retrospective study reviewed the results of 1020 consecutive patients (2040 eyes) who had SBCS by endolenticular phacoemulsification through a clear corneal incision on the corneal steep axis with foldable posterior chamber intraocular lens implantation. The surgeries were performed by the same surgeon from January 1996 to January 2002 as 2 consecutive independent procedures under topical and intracameral anesthesia. Outcome measures included intraoperative and postoperative complications, postoperative uncorrected and best spectacle-corrected visual acuities, refractive error, and patient satisfaction. RESULTS: Complications were few and would not likely have been prevented had the surgery been performed monocularly. CONCLUSIONS: Simultaneous bilateral cataract surgery did not lead to an increased incidence of intraoperative or postoperative complications. The visual acuity results were good, and the patients were pleased. No complications were observed that could be attributed to the procedures being done bilaterally.