Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.

We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific beta-tubulin isotype III, result in a spectrum of human nervous system disorders that we now call the TUBB3 syndromes. Each mutation causes the ocular motility disorder CFEOM3, whereas some also result in intellectual and behavioral impairments, facial paralysis, and/or later-onset axonal sensorimotor polyneuropathy. Neuroimaging reveals a spectrum of abnormalities including hypoplasia of oculomotor nerves and dysgenesis of the corpus callosum, anterior commissure, and corticospinal tracts. A knock-in disease mouse model reveals axon guidance defects without evidence of cortical cell migration abnormalities. We show that the disease-associated mutations can impair tubulin heterodimer formation in vitro, although folded mutant heterodimers can still polymerize into microtubules. Modeling each mutation in yeast tubulin demonstrates that all alter dynamic instability whereas a subset disrupts the interaction of microtubules with kinesin motors. These findings demonstrate that normal TUBB3 is required for axon guidance and maintenance in mammals.

The effects of partial and full correction of refractive errors on sensorial and motor outcomes in children with refractive accommodative esotropia.

PURPOSE: To investigate the effects of partial and full correction of refractive errors on sensorial and motor outcomes in children with refractive accommodative esotropia (RAE). METHODS: The records of pediatric cases with full RAE were reviewed; their first and last sensorial and motor findings were evaluated in two groups, classified as partial (Group 1) and full correction (Group 2) of refractive errors. RESULTS: The mean age at first admission was 5.84 ± 3.62 years in Group 1 (n = 35) and 6.35 ± 3.26 years in Group 2 (n = 46) (p = 0.335). Mean change in best corrected visual acuity (BCVA) was 0.24 ± 0.17 logarithm of the minimum angle of resolution (logMAR) in Group 1 and 0.13 ± 0.16 logMAR in Group 2 (p = 0.001). Duration of deviation, baseline refraction and amount of reduced refraction showed significant effects on change in BCVA (p < 0.05). Significant correlation was determined between binocular vision (BOV), duration of deviation and uncorrected baseline amount of deviation (p < 0.05). The baseline BOV rates were significantly high in fully corrected Group 2, and also were found to have increased in Group 1 (p < 0.05). Change in refraction was - 0.09 ± 1.08 and + 0.35 ± 0.76 diopters in Groups 1 and 2, respectively (p = 0.005). Duration of deviation, baseline refraction and the amount of reduced refraction had significant effects on change in refraction (p < 0.05). Change in deviation without refractive correction was - 0.74 ± 7.22 prism diopters in Group 1 and - 3.24 ± 10.41 prism diopters in Group 2 (p = 0.472). Duration of follow-up and uncorrected baseline deviation showed significant effects on change in deviation (p < 0.05). CONCLUSIONS: Although the BOV rates and BCVA were initially high in fully corrected patients, they finally improved significantly in both the fully and partially corrected patients. Full hypermetropic correction may also cause an increase in the refractive error with a possible negative effect on emmetropization. The negative effect of the duration of deviation on BOV and BCVA demonstrates the significance of early treatment in RAE cases.

Causes of low vision and blindness in a Turkish adult population: the Izmir eye study.

BACKGROUND: Data from Turkey show that sense organ diseases were the second leading cause of years lost due to disability in 2015. However, there are no reliable data on either the baseline causative disorders of visual impairment or the burden of these disorders on the population in Izmir region. Izmir is the third most populated city of Turkey with a population of approximately 4.2 million. AIM: The purpose of this study was to define the baseline disorders causing low vision and blindness in accordance with World Health Organization criteria in an adult population in Izmir. METHODS: We evaluated the ophthalmologic reports of 20 790 people in Izmir, Turkey. Age- and sex-specific causes of low vision and blindness were identified. RESULTS: Bilateral low vision and blindness was detected in 347 people, 172 males and 175 females. For those aged 18-50 years, retinal dystrophies (37%), congenital eye anomalies (14%) and myopic degenerations (13%) were the most common causes. For those aged 50+ years, age-related macular degeneration (21%) was the leading cause. Diabetic retinopathy (17%), corneal opacities (14%), cataract (12%) and glaucoma (9%) were also important. Sex was not a significant determinant. CONCLUSION: The specific causes of visual impairment vary greatly with age, however, unavoidable retinal pathologies were the predominant causes at all ages.

Risk factors affecting the visual outcome in patients with indirect traumatic optic neuropathy.

PURPOSE: To evaluate the etiology and possible prognostic factors affecting the visual outcome in patients with indirect traumatic optic neuropathy (TON). METHODS: The records of patients with indirect TON were reviewed and compared the results of treatment with high doses of corticosteroids (Group 1) and simple observation without treatment (Group 2). RESULTS: The mean age at the time of injury was 34.7 ± 11.4 (18-58) years in Group 1 and 37.5 ± 17.7 (8-73) years in Group 2 (p = 0.513). The mean value for the first referral of the patient to the ophthalmology clinic following trauma was 2.4 ± 2.4 (1-10) days in Group 1 and 16.7 ± 13.9 (1-30) days in Group 2 (p = 0.004). The most common causes of trauma were road traffic collision (57.1 and 68%) in the Group 1 and 2, respectively (p = 0.606). The mean initial visual acuity was 0.03 ± 0.07 (0.00-0.30) in Group 1 and 0.17 ± 0.21 (0.00-0.80) decimal in Group 2 patients (p = 0.001). The mean visual acuity at the final follow-up was 0.21 ± 0.35 (0.00-1.00) and 0.46 ± 0.42 (0.00-1.00) in Group 1 and Group 2, respectively, indicating better initial and final visual acuity values in Group 2 (p = 0.022), and also a statistically significant recovery of visual acuity between initial and final values in both groups (p < 0.05). The most important determinant of the final visual acuity was initial visual acuity (p < 0.001; 95.0% CI: 0.792-2.096). CONCLUSIONS: Our study demonstrated that road traffic collision is the leading cause of indirect traumatic optic neuropathy, and the best predictor of final visual acuity outcome is the initial visual acuity.

Surgical exploration in persistent inferior oblique overactions.

PURPOSE: To report the causes of persistent inferior oblique (IO) overactions after disinsertion procedure. METHODS: Surgical findings of nine eyes of eight patients who needed secondary surgery to the IO muscles because of persistent overaction after IO disinsertion were evaluated retrospectively. Inferior obliques were found partially retracted into their sheath, and some parts of the proximal muscle stumps were found to have established attachments through scar tissues to the sclera in five eyes. They were totally in the subtenon space, reattached to the sclera in the three eyes and were found untouched; inferior rectus was disinserted instead of IO muscle, in the last eye. Proximal terminals of the IOs were isolated, dissected from its sheath and from other fascial attachments. The muscle stump pushed out of subtenon's space through its Tenon's sheath after 5-8 mm myectomy and cauterization to prevent any direct or indirect contact between the muscle and sclera. RESULTS: Persistent overactions of IO muscles were resolved in all cases and did not return in any case in the follow-up period of 4 months to 6 years. CONCLUSIONS: Persistent overaction of IO muscle after disinsertion usually results from insufficient retraction of the muscle from the subtenon's space. It can be both prevented and managed by complete dissection of the IO muscle from its all fascial attachments and pushing the proximal terminal of the muscle completely out of subtenon's space through its sheath traversing Tenon's capsule after a segment myectomy and cauterization.

A Rare Patient With Orbital Apex Syndrome, Anterior Uveitis, and Necrotizing Scleritis Due to Herpes Zoster Ophthalmicus.

The purpose of this study was to describe a patient of orbital apex syndrome, anterior uveitis, secondary glaucoma, corneal dellen, and necrotizing scleritis following an attack of herpes zoster ophthalmicus, and the placement of a pericardial patch graft. A 64-year-old male patient with blepharoptosis of his right eye and multiple vesicles on the forehead, nose and cheeks, limitation on all gazes, blepharoptosis, and exophthalmia was eventually diagnosed with ophthalmic zona with orbital apex syndrome. After the treatment with systemic antiviral and steroid, there was complete recovery of the unilateral vesicular eruption, ophthalmoplegia, and ptosis at the third month follow-up. However, anterior uveitis, necrotizing scleritis, secondary glaucoma, and corneal dellen developed during follow-up. At the ninth month, pericardial patch graft (Tutoplast) was placed due to progression of the scleral thinning. Graft vascularization was completed. Careful and long-term follow-up of patients with ophthalmic zona is required for possible ophthalmic complications of varicella zoster virus infections. A pericardial patch graft might be placed due to the development of necrotizing scleritis.

Anterior segment parameters and eyelids in systemic sclerosis.

To evaluate main numerical parameters of anterior segment and the effects of eyelid skin changes on these parameters in patients with systemic sclerosis (SSc). Thirty-four patients with SSc and 34 healthy individuals were enrolled. Besides full eye examination, anterior segment measurements including anterior chamber depth (ACD), anterior chamber volume, anterior chamber angle width, central corneal thickness, pupil size, corneal volume and keratometry were obtained using a Sirius Scheimpflug/Placido photography-based topography system. Eyelid thickness was evaluated using the scala of the modified Rodnan skin score and the patients were subgrouped with respect to these scores to evaluate the effect of eyelid thickening on the anterior segment parameters. Age and sex distributions of the groups were similar (p > 0.05). SSc patients had steeper and thinner corneas, smaller corneal volumes, narrower, shallower and smaller anterior segments but only the mean ACD value of right eyes was found significantly less than those of the controls (p = 0.047). The mean ACD values of SSc subgroup patients with moderate to severe eyelid thickening (50 %) had lower ACD measurements compared to those of control group. (p = 0.043 for the right eyes, p = 0.070 for the left eyes). However, SSc subgroup patients with none to mild eyelid thickening (50 %) had similar anterior segment parameters with control subjects (p > 0.05). Anterior chamber parameters of the SSc patients could show significant differences. These differences occur parallel to the eyelid changes but not secondary to it.

Congenital Mydriasis: Diagnostic Challenge in a Case with Accompanying Neurologic Symptoms.

A 34-year-old woman was hospitalised with acute onset nausea, vomiting, ataxia, nystagmus, blurred vision, and bilateral mydriasis. Toxicologic investigations and serologic tests for infectious aetiologies were negative. Demyelinating disease was suspected based on magnetic resonance imaging (MRI) findings but there were no lesions at the midbrain explaining bilateral mydriasis. Direct light, consensual light, and near responses for pupil were all negative. Biomicroscopic examination of the iris did not show any sphincter damage or tonic movements. Pupils didn't respond to pilocarpine (0.1% and 2%) and remained unresponsive during the follow-up period. Congenital mydriasis was diagnosed because old photographs revealed that pupils were dilated previously.

Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays.

Purpose: To functionally evaluate novel human sequence-derived candidate genes and variants for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs). Methods: Through exome and genome sequencing of a genetically unsolved human oCCDD cohort, we previously identified variants in 80 strong candidate genes. Here, we further prioritized a subset of these (43 human genes, 57 zebrafish genes) using a G0 CRISPR/Cas9-based knockout assay in zebrafish and generated F2 germline mutants for seventeen. We tested the functionality of variants of uncertain significance in known and novel candidate transcription factor-encoding genes through protein binding microarrays. Results: We first demonstrated the feasibility of the G0 screen by targeting known oCCDD genes phox2a and mafba. 70-90% of gene-targeted G0 zebrafish embryos recapitulated germline homozygous null-equivalent phenotypes. Using this approach, we then identified three novel candidate oCCDD genes (SEMA3F, OLIG2, and FRMD4B) with putative contributions to human and zebrafish cranial motor development. In addition, protein binding microarrays demonstrated reduced or abolished DNA binding of human variants of uncertain significance in known and novel sequence-derived transcription factors PHOX2A (p.(Trp137Cys)), MAFB (p.(Glu223Lys)), and OLIG2 (p.(Arg156Leu)). Conclusions: This study nominates three strong novel candidate oCCDD genes (SEMA3F, OLIG2, and FRMD4B) and supports the functionality and putative pathogenicity of transcription factor candidate variants PHOX2A p.(Trp137Cys), MAFB p.(Glu223Lys), and OLIG2 p.(Arg156Leu). Our findings support that G0 loss-of-function screening in zebrafish can be coupled with human sequence analysis and protein binding microarrays to aid in prioritizing oCCDD candidate genes/variants.

Comparison of Intravitreal Dexamethasone Implant and Intravitreal Ranibizumab Efficacy in Younger Patients with Branch Retinal Vein Occlusion.

Objectives: This study aimed to compare the effects of dexamethasone (DEX) implants and ranibizumab (RAN) injections in younger patients with macular edema due to branch retinal vein occlusion (RVO) in a 6-month follow-up. Methods: The treatment-naive patients with macular edema secondary to branch RVO were included retrospectively. Medical records of patients who were treated with intravitreal RAN or DEX implant were evaluated before and at the 1st, 3rd, and 6th months after the injection. Primary outcome measures were the change in best-corrected visual acuity (BCVA) and central retinal thickness. The level of statistical significance was set at 0.05/3=0.016, according to the Bonferroni correction. Results: Thirty-nine eyes of 39 patients were included in the study. The mean age of the study population was 53.82±5.08 years. Median BCVA in the DEX group (n=23) at baseline, 1st, 3rd, and 6th month was 1.1, 0.80 (p=0.002), 0.70 (p=0.003), and 1 (p=0.018) logarithm of the minimum angle of resolution (log-MAR), respectively (p<0.05). Median BCVA in the RAN group (n=16) at baseline, 1st, 3rd, and 6th months was 0.90, 0.61, 0.52, and 0.46 logMAR, respectively (p<0.016 for all comparisons). Median central macular thickness (CMT) in the DEX group at baseline, 1st, 3rd, and 6th months was 515, 260, 248, and 367 µm, respectively (p<0.016 for all comparisons). Median CMT in the RAN group at baseline, 1st, 3rd, and 6th months was 432.5 (p<0.016), 275 (p<0.016), 246 (p<0.016), and 338 (p=0.148) µm. Conclusion: There is no significant difference in treatment efficacies in both visual and anatomical outcomes at the end of the 6th month. However, RAN can be considered the first choice in younger patients with macular edema secondary to branch RVO because of the lower side effect profile.

Optical Coherence Tomography Biomarkers in Bilateral Diabetic Macular Edema Patients with Asymmetric anti-VEGF Response.

Background: This study aimed to identify optical coherence tomography (OCT) biomarkers for predicting response to anti-VEGF treatment in diabetic macular edema (DME)Methods: Bilateral DME patients with asymmetric response to a loading dose of anti-VEGF (ranibizumab/aflibercept) treatment were retrospectively studied. The morphologic response criterion was central subfield thickness (CST) ≤300 µm; asymmetric response was defined as ≥10% difference in CST reduction between the eyes. The functional response criterion was an increase in logMAR acuity of ≥3 lines, with an increase below this threshold in the fellow eye considered asymmetric response. Relationships between final morphologic and functional responses to anti-VEGF therapy and baseline values of the following OCT-derived biomarkers were evaluated: DME subtype, CST, vitreoretinal interface anomalies, disorganization of the inner retinal layers (DRIL), external limiting membrane (ELM) disruption, ellipsoid zone (EZ) disruption, and subretinal fluid (SRF).Results: After a loading dose of anti-VEGF, 31 eyes that met both morphologic and functional response criteria were classified as responders (RR) and 27 eyes that did not respond morphologically or functionally based on the defined criteria were classified as resistant (RT). Eyes that showed only functional (n = 5) or morphological response (n = 1) were excluded due to their small number. The presence of SRF or simple epiretinal membrane (ERM) was not associated with any difference in treatment responses (p > .05), while tractional ERM, extensive DRIL (≥500 µm), and ELM and EZ disruptions in the fovea-centered 1000-µm zone were important OCT biomarkers in predicting resistance (p < .001). A multilayer perceptron model ranked predictive power as 100% for ELM disruption, 51.7% for tractional ERM, 25.4% for DRIL, and 24.5% for EZ disruption.Conclusion: Extensive ELM disruption was the strongest OCT biomarker to predict anti-VEGF resistance, followed by tractional ERM. EZ disruption and DRIL had relatively lower predictive value.

Weight reduction for a better visual outcome in idiopathic intracranial hypertension.

PURPOSE: To evaluate the correlation between weight reduction and visual outcome in overweight patients with idiopathic intracranial hypertension. METHODS: Thirty-nine newly diagnosed, overweight (body mass index >25 kg/m2) patients with idiopathic intracranial hypertension were studied retrospectively. All patients underwent medical treatment with acetazolamide, and a weight reduction program was also offered. Patients were grouped according to their compliance with this weight reduction program into the diet-success (Group 1) and diet-failure groups (Group 2). Body mass index, papilledema, visual acuity, and perimetric mean deviation were compared at the end of the 6-month study period. RESULTS: Groups 1 and 2 did not differ regarding the baseline mean body mass index (32.63 ± 5.61, 32.35 ± 5.06 kg/m2), visual acuity (0.080 ± 0.13, 0.130 ± 0.24 logMAR), perimetric mean deviation (-9.978 ± 0.68, -12.86 ± 8.91), or papilledema grade (2.94 ± 0.22, 2.90 ± 0.30), respectively (p>0.05). During the 6 months' follow-up, Group 1 patients, who complied with both medical and diet therapy, improved significantly in all parameters, including body mass index (p<0.001), visual acuity (p=0.001), perimetric mean deviation (p=0.016), and papilledema grade (p<0.001). Conversely, Group 2 patients, who only underwent medical therapy, improved only in papilledema grade (p<0.001). However, coincident development of optic disc pallor was observed in three patients. Further, they also had significant loss in visual acuity (p=0.047) during the study period. CONCLUSION: Weight reduction combined with medical treatment is associated with significantly better improvement in visual acuity, visual field, and papilledema in idiopathic intracranial hypertension patients. Compliance with an efficient diet program should be encouraged in overweight patients with idiopathic intracranial hypertension.

Familial Exudative Retinopathy: A Case and Family Analysis.

Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder of retinal angiogenesis. A 49-year-old male patient was referred to our clinic for retinal vascular occlusion. His history, clinical findings, and fundus fluorescein angiography findings were evaluated. Family members were called and eye examinations were performed. Our patient was not born preterm and he reported decreased visual acuity after a traffic accident during childhood. He had laser treatment when he was 12 years old and again 1 month before our examination. He also had laser-assisted in situ keratomileusis surgery for both eyes in 2002. On examination, his visual acuity was 0.4 in the right eye and 0.3 in the left eye. He had cortical cataract in both eyes. Macula OCT revealed macular contour irregularity due to epiretinal membrane in his right eye and minimal perifoveal thinning in his left eye. On fundus photography, straightening of the retinal vessels, macular dragging, retinal folds on temporal retina, preretinal fibrosis, and laser spots were seen. FFA revealed avascular retinal areas with incomplete laser spots in the temporal, inferior, and superior parts of retina. He also had neovascularization with leakage in the temporal retina of his right eye. The patient's brother, who was also born at full term, also had excessive branching of the vascular structures in the temporal peripheral retina, non-perfused cord vessels and avascular areas. In light of all these findings, we diagnosed our patient with Stage 2A FEVR and his brother with Stage 1 FEVR. In summary, FEVR is a clinically diagnosed disease. Because FEVR is inherited and potentially sight-threatening, family examination is helpful and important so that affected family members can be diagnosed and followed up.

Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.

BACKGROUND: Congenital fibrosis of the extraocular muscles types 1 and 3 (CFEOM1/CFEOM3) are autosomal dominant strabismus disorders that appear to result from maldevelopment of ocular nuclei and nerves. We previously reported that most individuals with CFEOM1 and rare individuals with CFEOM3 harbor heterozygous mutations in KIF21A. KIF21A encodes a kinesin motor involved in anterograde axonal transport, and the familial and de novo mutations reported to date predictably alter one of only a few KIF21A amino acids--three within the third coiled-coil region of the stalk and one in the distal motor domain, suggesting they result in altered KIF21A function. To further define the spectrum of KIF21A mutations in CFEOM we have now identified all CFEOM probands newly enrolled in our study and determined if they harbor mutations in KIF21A. RESULTS: Sixteen CFEOM1 and 29 CFEOM3 probands were studied. Three previously unreported de novo KIF21A mutations were identified in three CFEOM1 probands, all located in the same coiled-coil region of the stalk that contains all but one of the previously reported mutations. Eight additional CFEOM1 probands harbored three of the mutations previously reported in KIF21A; seven had one of the two most common mutations, while one harbored the mutation in the distal motor domain. No mutation was detected in 5 CFEOM1 or any CFEOM3 probands. CONCLUSION: Analysis of sixteen CFEOM1 probands revealed three novel KIF21A mutations and confirmed three reported mutations, bringing the total number of reported KIF21A mutations in CFEOM1 to 11 mutations among 70 mutation positive probands. All three new mutations alter amino acids in heptad repeats within the third coiled-coil region of the KIF21A stalk, further highlighting the importance of alterations in this domain in the etiology of CFEOM1.

Retinal nerve fiber and optic disc morphology using spectral-domain optical coherence tomography in scleroderma patients.

PURPOSE: To evaluate the optic nerve head parameters and peripapillary retinal nerve fiber layer using spectral-domain optical coherence tomography (SD-OCT) in a systemic sclerosis (SSc) cohort and age-matched controls to determine whether SSc patients have an increased risk of normal-tension glaucoma (NTG). METHODS: We examined 30 patients (3 male, 27 female) with SSc and 28 age- and sex-matched controls. Retinal nerve fiber and optic disc morphology were evaluated using Cirrus SD-OCT. RESULTS: Optic disc morphology measurements including disc area, rim area, average and vertical cup/disc (C/D) ratio, and cup volume were not significantly different between the study groups. The average and 4-quadrant retinal nerve fiber layer (RNFL) measurements of the C/D >0.3 subgroups were not significantly different in the patients and controls. These values were also similar for the C/D >0.5 subgroups except that the average inferior quadrant RNFL thickness of the right eyes in the patient subgroup was significantly thinner than in the control subgroup (p<0.05). CONCLUSIONS: Our SSc cohort had relatively shorter disease duration but increased prevalence of early glaucomatous damage signs. Our findings indicate that SSc is a risk factor for developing normal-tension glaucoma. Further studies combined with visual field evaluation are necessary to identify the long-term glaucomatous effects of SSc.

Choroidal and central foveal thickness in patients with scleroderma and its systemic associations.

BACKGROUND: The aim was to investigate the morphological changes in the fovea and choroid in patients with scleroderma and its systemic associations. METHODS: Thirty-four scleroderma patients and 31 healthy controls were enrolled. Choroidal thickness (CT) at five defined points (subfoveal [sfCT] and 1.0 [N1.0] and 3.0 µm nasal [N3.0] and 1.0 [T1.0] and 3.0 µm temporal [T3.0] from the centre of the fovea) and central foveal thickness were measured. RESULTS: The mean central foveal thickness (right eye 229.3 ± 28.6 versus 232.6 ± 29.7 and left eye 219.8 ± 21.4 versus 223.3 ± 21.9 µm) and sfCT (right eye 326.4 ± 56.5 versus 327.3 ± 62.1 and left eye 316.7 ± 53.4 versus 317.6 ± 51.6 µm) values were not different in patients with scleroderma compared with the controls (p > 0.05). The mean CT at N1.0, N3.0, T1.0 and T3.0 did not differ among these groups in both eyes (p > 0.05). There was no difference in the mean central foveal thickness and CT of both eyes in diffuse and limited scleroderma (p > 0.05). A negative correlation was found between anti-nuclear antibody positivity and CT at T3 and N3 (respectively, r = -0.439 and r = -0.383, p < 0.05). CONCLUSION: Choroidal thickness at five points and central foveal thickness in both eyes did not significantly differ in scleroderma patients compared with healthy controls. Choroidal thickness at the T3 and N3 points showed a negative correlation with anti-nuclear antibody positivity.

Visual acuity in children with glaucoma.

PURPOSE: To investigate the risk factors that influence outcome of visual function in children with glaucoma. DESIGN: Retrospective noncomparative interventional case series. PARTICIPANTS: One hundred twenty-six patients (204 eyes) who had childhood glaucoma observed over 30 years, with a mean follow-up of 11.6 years. INTERVENTIONS: Full ophthalmologic examination, including measurement of corrected visual acuity (VA), slit-lamp and fundus examinations, intraocular pressure (IOP) measurement, and gonioscopic evaluation; periodic cycloplegic refraction and perimetry; and treatment of amblyopia. MAIN OUTCOME MEASURES: Type of glaucoma; final best-corrected VA of good (6/6-6/12), fair (6/15-6/30), or poor (< or =6/60); patient age at time of development of glaucoma complications; and percentage of IOP measurements of < or =19 mmHg, perimetry results, and cup-to-disc (C/D) ratio during follow-up. RESULTS: The most recently measured VAs of children treated for glaucoma were good in 29%, fair in 24%, and poor in 47%. The most favorable outcome was for patients with primary infantile glaucoma followed by secondary glaucoma. Amblyopia and optic nerve damage due to glaucoma were the most frequent complications affecting VA. Patients with an IOP of < or =19 mmHg on 80% of determinations had stable optic nerve C/D ratios and visual fields. CONCLUSIONS: Vision sufficient to qualify for a motor vehicle driving license was attainable in almost 30% of affected eyes. Visual acuity achieved at 6 years of age remained stable over the study period. Treatment of amblyopia is important to achieve this result.

Clinical and MRI findings of cerebellar agenesis in two living adult patients.

Cerebellar agenesis (CA) is an extremely rare entity. We present two adult patients with CA. The 61-year-old man had ataxia, dysarthria, abnormalities in cerebellar tests, severe cognitive impairment, and moderate mental retardation. The 26-year-old woman had dysmetria, dysdiadochokinesia, and dysarthria as well as mild cognitive impairment and mild mental retardation. Magnetic resonance imaging (MRI) showed complete absence of the cerebellum with small residual vermis. Brainstem was hypoplastic and structures above tentorium were normal. Supratentorial white matter bundles were unaffected in diffusion tensor tractography. Only few adult patients with CA have so far been published. These cases show that patients with CA present with a variety of developmental, clinical, and mental abnormalities; and emphasize the role of the cerebellum in normal motor, language, and mental development.

Single-stage adjustable strabismus surgery under topical anesthesia and propofol.

AIM: To present our experience with single-stage adjustable strabismus surgery (SSASS) under topical anesthesia and propofol. MATERIALS AND METHODS: Sixteen patients who either had diplopia before the surgery or were at risk of developing diplopia after the surgery were selected for this operation after evaluating their tolerance for an eyelid speculum. Recession of the lateral recti, recession, resection and advancement of the medial recti, anteriorization of the inferior oblique and marginal myotomy to the superior rectus were the procedures done under topical anesthesia and propofol. The operations were done in two phases; in the first phase, the patients were sedated for 10 minutes with intravenous propofol (2 mg/kg) and the operation was done under topical anesthesia with 2% lidocaine. In the second phase, the patients were conscious and the adjustments were made. RESULTS: None of the patients complained of significant pain during the surgery. No complications occurred during and after the procedure and no patients had diplopia during the postoperative follow-up. CONCLUSIONS: Single-stage adjustable surgery is practical and avoids the risks of regional and general anesthesia. The only disadvantage is the pain that some patients experience. We found that it is feasible to use propofol for this surgery; it provides deep sedation and prevents pain from being felt during the operation, and its short elimination half-life provides rapid awakening for the adjustment phase.

Surgical Results of Symmetric and Asymmetric Surgeries and Dose-Response in Patients with Infantile Esotropia.

OBJECTIVES: To evaluate the results of symmetric and asymmetric surgery and responses to surgical amounts in patients with infantile esotropia. MATERIALS AND METHODS: The records of patients with infantile esotropia who underwent bilateral medial rectus recession (symmetric surgery) and unilateral medial rectus recession with lateral rectus resection (asymmetric surgery) were analyzed. The results of the cases with symmetric (group 1) and asymmetric (group 2), successful (group 3) and failed (group 4) surgeries were compared, and responses to the amount of surgery were investigated. RESULTS: There were no significant differences between group 1 (n=71) and group 2 (n=13) cases in terms of gender, refraction, preoperative distance deviation, anisometropia and postoperative deviation angles, binocular vision, surgical success or follow-up period (p>0.05). The rate of amblyopia, near deviation and amount of surgery were higher in group 2 cases (p<0.05). Between group 3 (n=64) and group 4 subjects (n=20), no significant differences were detected in terms of gender, surgical age, refraction, amblyopia, anisometropia, preoperative deviation angles, the number of symmetric and asymmetric surgeries, the amount of surgery, or postoperative binocular vision (p>0.05). The average postoperative follow-up period was 15.41±19.93 months (range, 6-98 months) in group 3 cases and 40.45±40.06 months (range, 6-143 months) in group 4 cases (p=0.000). No significant difference was detected in the amount of deviation corrected per 1 mm of surgical procedure between the successful cases in the symmetric and asymmetric groups (p>0.05). CONCLUSION: Symmetric or asymmetric surgery may be preferable in patients with infantile esotropia according to the clinical features. It is necessary for every clinic to review its own dose-response results.