Osteochodromyxoma presenting as case of congenital nasolacrimal duct obstruction.

Purpose: We report the case of a 10-month-old with nasolacrimal duct obstruction (NLDO) associated with osteochondromyxoma (OMX), a very rare bone tumor. Observations: A 10-month-old boy presented with a 6-month history of right eye epiphora not responding to digital massage and topical steroid-antibiotics eye drops. The ophthalmic exam showed right medial canthal swelling. During the ophthalmic exam an abnormal snoring sound was noted. The mother also reported that patient experienced frequent upper respiratory tract infections. Inspection of nostrils showed a right nasal lesion that upon comprehensive evaluation by ENT and pathology teams turned out to be an OMX with loss of PRKAR1A expression. Further genetic testing confirmed the Carney complex (CNC) diagnosis and the patient was referred to multidisciplinary care. To the best of our knowledge, this is one of the first cases of OMX-induced NLDO, where a typical looking congenital NLDO ended up with a diagnosis of a rare genetic disease. Conclusion and Importance: We have described a case of OMX of the nasal cavity masquerading as congenital NLDO. This case emphasizes that NLDO is not always congenital if presenting within the first few months of life. It is important to obtain a thorough history and exam to evaluate potential differential diagnoses to guide subsequent decision-making steps.

Reactivation of retinopathy of prematurity six years after intravitreal injection of bevacizumab.

Although intravitreal anti-vascular endothelial growth factor (VEGF) therapy is effective in the management of retinopathy of prematurity (ROP), reactivations following treatment are known to occur. We present the case of an asymptomatic child who developed a very late reactivation of ROP 6 years after its successful treatment with intravitreal bevacizumab. This case reemphasizes the importance of long-term follow-up after anti-VEGF therapy for ROP until retinal vascularization is complete. It also supports investigating the utility of laser photocoagulation for peripheral avascular retina after successful treatment with anti-VEGF injection for type I ROP.

Ocular Point-of-Care Ultrasound: Description of Intermediate Uveitis in an Adolescent Female.

ABSTRACT: Ocular point-of-care ultrasound has been used to assess for intraocular pathology, including retinal and vitreous detachment. We describe a pediatric patient whose initial point-of-care ultrasound examination appeared to be consistent with bilateral posterior vitreous detachment but who was ultimately diagnosed with intermediate uveitis.

Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) Gene.

PURPOSE: To report the occurrence of intraretinal cystoid spaces presumably due to retinal degeneration caused by CRB1 mutations, and the response to treatment with carbonic anhydrase inhibitors. MATERIALS: Retrospective case series. METHODS: We report four patients with retinal degeneration and intraretinal cystoid spaces due to CRB1 mutation. Of these patients, three were treated with topical carbonic anhydrase inhibitors. One of these three patients was changed to oral carbonic anhydrase inhibitor. Best corrected visual acuity and quantitative and qualitative macular optical coherence tomography results were recorded. RESULTS: Three patients were compound heterozygous for CRB1 mutations, and one had two mutations one of which was not found in the father. A total of seven different mutations were detected. All patients treated with carbonic anhydrase inhibitors experienced an improvement in visual acuity and decreased central retinal thickness, except in one eye in which retinal thickness paradoxically increased. CONCLUSIONS: CRB1 mutations may be associated with intraretinal cystoid spaces. The use of carbonic anhydrase inhibitors can result in improved visual acuity in some patients.

Outcomes of strabismus surgery with or without trainee participation as surgeon.

PURPOSE: To compare success rates of strabismus surgery that involves trainees versus those performed solely by staff surgeons. DESIGN: Retrospective, comparative case series. SUBJECTS: Patients undergoing eye muscle surgery for primarily horizontal deviations. METHODS: Retrospective comparative case series of 543 patients (921 eyes) undergoing eye muscle surgery, with or without trainee participation, for horizontal deviations. MAIN OUTCOME MEASURES: Success in surgery defined as residual horizontal deviations of 10 prism diopters or less. RESULTS: Trainees were involved in surgeries on 396 patients (672 eyes), whereas only staff surgeons operated on 147 patients (249 eyes). After minimum follow-up of 8 weeks, there was no overall significant difference between the success rates of procedures that involved trainees as surgeons and those that did not (P = 0.59). CONCLUSIONS: The involvement of trainees as operators in surgeries on horizontal eye muscles does not result in a worse outcome than surgeries exclusively performed by staff. With a shift toward competency-based education and more scrutiny of patient outcomes, these data further support the quality of surgical care provided by trainees.

Office probing for treatment of nasolacrimal duct obstruction in infants.

PURPOSE: To determine whether demographic or clinical factors are associated with the outcome of office-based nasolacrimal duct probing for the treatment of congenital nasolacrimal duct obstruction (NLDO). METHODS: In two multicenter prospective studies, 384 eyes of 304 children aged 6 to <15 months with NLDO underwent a nasolacrimal duct probing performed in the office using topical anesthesia. Treatment success, defined as no clinical signs of NLDO (epiphora, increased tear lake, or mucous discharge) and no reoperation, was assessed 1 month after probing in one study and 6 months after probing in the other study. Data from both studies were pooled to evaluate associations between baseline characteristics and treatment success. RESULTS: Office probing was successful in 75% of eyes overall (95% CI, 70%-80%). The procedure was less successful in eyes of children with bilateral NLDO compared with unilateral NLDO (63% vs 80%; relative risk = 0.78 [95% CI, 0.66-0.92]) and in eyes that had 2 or 3 clinical signs of NLDO compared with one (71% vs 83%; relative risk = 0.88 [95% CI, 0.81-0.96]). Treatment success did not appear to be related to age, specific clinical signs of NLDO, prior treatment, or research study. CONCLUSIONS: Performing nasolacrimal duct probing in the office successfully treats NLDO in the majority of cases in children aged 6 to <15 months. The success rate is lower with bilateral disease or when more than one clinical sign of NLDO is present.

Retinoschisis and hyperopia associated with partial monosomy of 6q and partial trisomy of 11q.

BACKGROUND: Retinoschisis, or retinal lamellar splitting, can occur in a number of hereditary conditions. The most common cause of congenital or childhood onset retinoschisis is the clinical entity known as juvenile retinoschsis, which is caused by mutations in the X-linked retinoschisis 1 gene. Genes other than X-linked retinoschisis 1 gene have rarely been implicated in association with hereditary retinoschisis. METHODS: We describe a 9-year-old male who presented with several phenotypic features associated with partial monosomy of chromosome 6q and partial trisomy of chromosome 11q, including myelomeningocele, mental and growth retardation, seizures, microcephaly, scoliosis, and facial dysmorphisms, as well as novel ocular findings including bilateral retinoschisis and hyperopia. RESULTS: This case report highlights the necessity for a detailed ophthalmic examination of patients with both 6q deletions as well as 11q duplications to ensure accurate and timely diagnosis and treatment of the complications associated with the described ocular conditions.

Findings of perinatal ocular examination performed on 3573, healthy full-term newborns.

OBJECTIVE: To document the findings of a newborn eye examination programme for detecting ocular pathology in the healthy full-term newborn. METHODS: This is a cross-sectional study of the majority of newborns born in the Kunming Maternal and Child Healthcare Hospital, China, between May 2010 and June 2011. Infants underwent ocular examination within 42 days after birth using a flashlight, retinoscope, hand-held slit lamp microscope and wide-angle digital retinal image acquisition system. The retinal fundus examination utilised the RetCam wide-field digital imaging system (Clarity Medical Systems, Pleasanton, California, USA). The external eye, pupillary light reflex, red reflex, opacity of refractive media, anterior chamber and posterior segments were also examined. RESULTS: A total of 3573 healthy full-term newborns were enrolled and examined in the programme. There was detection of 871 abnormal cases (24.4%). The majority of abnormal exams were 769 (21.52%) retinal haemorrhages. Of these, there were 215 cases of significant retinal haemorrhage, possible sight threatening or amblyogenic, representing 6.02% of the total. In addition, 67 cases (1.88%) involved macular haemorrhage. The other 107 cases (2.99%) with abnormal ocular findings included subconjunctival haemorrhage, congenital microphthalmos, congenital corneal leukoma, posterior synechia, persistent pupillary membrane, congenital cataract, enlarged C/D ratio, retinal hamartoma versus retinoblastoma, optic nerve defects, macular pigment disorder and non-specific peripheral retinopathy. CONCLUSION: Ocular examination of healthy newborns leads to the detection of a significant number of ocular pathologies. The most commonly discovered ocular abnormality during examination of the newborns in this study is retinal haemorrhage. The long-term impact of these findings is unknown. Although presumed by some to benign, neonatal retinal haemorrhages due to birth trauma could be involved in altering visual development. Further work, including prospective examination of newborns with long-term follow-up, is needed and supported by our findings.

Comparison of inferior oblique myectomy to recession for the treatment of superior oblique palsy.

PURPOSE: To compare inferior oblique (IO) myectomy with recession for the treatment of superior oblique (SO) palsy. METHODS: A retrospective review of medical records identified all patients with SO palsy who underwent IO weakening procedures. Patients were excluded if IO muscle surgery was bilateral, combined with other vertical muscle surgery and if follow up was less than 4 weeks. Good outcome parameters were: improvement of deviation in primary gaze, resolution of diplopia in primary and reading gazes and correction of head tilt to the contralateral side. We analysed subsets of subjects with large preoperative vertical deviations (>15Δ) and those with small-moderate deviations (≤15Δ). Comparisons were made using Wilcoxon rank sum and Fisher's exact tests. RESULTS: Eighty-five patients met the study criteria. Forty-three eyes underwent myectomy, and 42 underwent recession of the IO. Those patients who underwent myectomy compared with recession had less postoperative hypertropia (HT) in primary gaze (p<0.001) and were more likely to meet criteria for success as measured by ≤4Δ residual HT (p=0.056). This difference was pronounced (p=0.005) in patients with preoperative small-moderate deviations, but statistical significance was lost in patients with large preoperative deviations. There was no difference between the two groups with respect to resolution of diplopia or anomalous head tilt. CONCLUSIONS: IO weakening procedures, including both recession and myectomy, are effective in the treatment of SO palsy. While the two procedures were similar in treatment of diplopia and abnormal head tilt, our findings support myectomy as slightly more effective than recession in improving HT in primary gaze; this difference is more pronounced in individuals with small-moderate preoperative hyperdeviations.

Germinoma presenting as a fourth cranial nerve palsy in a patient with adenomatous polyposis coli (APC) gene mutation.

A 17-year-old boy with adenomatous polyposis and a history of an adenomatous polyposis coli (APC) gene mutation (IVS13(-2) A>G) presented for evaluation of vertical, binocular diplopia. Examination was suggestive of a fourth (trochlear) nerve palsy. A history of headaches was elicited and led to further investigation with neuroimaging, which identified a germinoma in the tectal plate and secondary hydrocephalus. We report the clinical, radiological, and histopathological findings of this patient, who to our knowledge is the first reported case of a germinoma occurring in association with adenomatous polyposis.

Astrocytic hamartoma of the optic disc and multiple café-au-lait macules in a child with neurofibromatosis type 2.

Neurofibromatosis type 2 (NF2) is a heritable syndrome characterized by multifocal proliferation of neural crest-derived cells. The characteristic and diagnostic finding of NF2 is bilateral vestibular nerve schwannomas (acoustic neuromas). In addition to other tumors involving the central and peripheral nervous systems, ophthalmic manifestations, including posterior subcapsular and peripheral cortical cataracts, optic nerve meningiomas, epiretinal membrane, and combined pigment epithelial and retinal hamartomas, are common to NF2. Herein we present an 8-year-old girl with NF2 and astrocytic hamartoma of the optic disc. This patient had been previously diagnosed with NF1 on the basis of multiple CAL macules and suspected subcutaneous neurofibromas. However, neuroimaging revealed bilateral acoustic neuromas, leading to a clinical diagnosis of NF2. Subsequent molecular genetic analysis confirmed the NF2 diagnosis. Multiple CAL macules and astrocytic hamartomas, while associated with NF1, are rarely associated with NF2. Specifically, we are not aware of any reported cases of optic disc astrocytic hamartoma in the setting of NF2.

A novel case of bilateral high myopia, cataract, and total retinal detachment associated with interstitial 11q deletion.

PURPOSE: Jacobsen syndrome, also known as 11q deletion syndrome, is a rare condition characterized by multiple anomalies, including developmental delay, cardiac abnormalities, blood dyscrasias, distal limb abnormalities, craniofacial anomalies, and variable ophthalmic manifestations. The syndrome's phenotype is due to a terminal deletion and is usually severely debilitating, frequently associated with fatality. Interstitial deletions, not involving the terminal end, have been associated with a more variable and less severe phenotype. METHODS: Herein, we describe a case of interstitial 11q deletion in a 16 year-old female with associated systemic and craniofacial abnormalities as well as a novel combination of ocular findings, specifically strabismus, high myopia, bilateral cataracts, and bilateral total retinal detachments. RESULTS: This case report highlights the necessity for a detailed ophthalmic examination of patients with both interstitial and terminal deletions of the long arm of chromosome 11.

Progression of type 2 to type 1 retinopathy of prematurity in the Early Treatment for Retinopathy of Prematurity Study.

OBJECTIVE: To examine the frequency and timing of progression from type 2 to type 1 retinopathy of prematurity (ROP) in the Early Treatment for Retinopathy of Prematurity Study. METHODS: Infants with prethreshold ROP that was no worse than low risk in 1 or both eyes, based on the RM-ROP2 model, were examined every 2 to 4 days for at least 2 weeks. Using the Early Treatment for Retinopathy of Prematurity Study-defined classification of eyes as having type 1 or type 2 prethreshold ROP, we analyzed the time to conversion from type 2 to type 1. Data were analyzed for 1 randomly selected eye for each child. RESULTS: Of 294 eyes at first diagnosis of type 2 ROP, 65 (22.1%) progressed to type 1 (mean [SD] interval, 9.0 [6.6] days; median, 7.0 days). Of 217 eyes with type 2 ROP that had an examination in less than 7 days, 25 (11.5%) were diagnosed with type 1 ROP in less than 7 days. Of 200 eyes that continued to have type 2 disease at the first follow-up examination and underwent a subsequent examination, 24 (15.7% of the 153 eyes that had an examination in <7 days) developed type 1 ROP in less than 7 days. The risk of progression from type 2 to type 1 in less than 7 days was greatest between 33 and 36 weeks' postmenstrual age, regardless of zone of retinopathy. CONCLUSIONS: Type 1 ROP can be identified with weekly examinations in most eyes with initial diagnosis of type 2 ROP; a small subset progresses to type 1 in less than 7 days. TRIAL REGISTRATION: clinicaltrials.gov Identifier: NCT00027222.

Physical changes in human meibum with age as measured by infrared spectroscopy.

Both lipids and mucins contribute to the stability of the tear film and lipids may inhibit tears from evaporating. Younger people have lower lipid viscosity, higher lipid volume, and a lower rate of tear evaporation. Since age-related changes in human meibum composition and conformation have never been investigated, as a basis for the study of lipid-associated changes with meibomian gland dysfunction, we used the power of infrared spectroscopy to characterize hydrocarbon chain conformation and packing in meibum from humans without dry eye symptoms in relation to age and sex. Meibum from normal human donors ranging in age from 3 to 88 years was studied. Meibum phase transitions were quantified by fitting them to a 4-parameter 2-state sigmoidal equation. Human meibum order and phase transition temperatures decrease with age and this trend may be attributed to lipid compositional changes. If meibum has the same thermodynamic properties on the surface of the tears as it does on the lid margin, a decrease in lipid-lipid interaction strength with increasing age could decrease the stability of tears since lipid-lipid interactions on the tear surface must be broken for the tear film to break up. This study also serves as a foundation to examine meibum conformational differences in meibum from people with meibomian gland dysfunction.