Kadriye Erkan Turan

Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation

We report the association of congenital mydriasis with prune belly syndrome and cerebrovascular anomalies in a 9-year-old boy who was found to have an ACTA2 mutation. This case illustrates the spectrum of systemic malformations that are attributable to mutations in ACTA2 and expands the spectrum of cerebrovascular anomalies that are now known to accompany congenital mydriasis.

The frequency and causes of abnormal head position based on an ophthalmology clinic’s findings: is it overlooked?

Purpose To determine the frequency of abnormal head position (AHP) and identify the underlying causes in patients who presented to an ophthalmology clinic due to any ophthalmologic complaint. Methods The medical records of patients who presented with any ophthalmologic symptoms during a 6-month period were prospectively evaluated. In all, 2,710 patients (1,492 female and 1,218 male) aged 6 months-91 years were included in the study. Each patient underwent complete ophthalmologic evaluation. Results Among the 2,710 patients, 30 (1.1%) (7 female and 23 male) with a mean age of 14.62 ± 17.45 years (range 6 months-60 years) had AHP. In total, 24 (80%) of the patients with AHP were aged ≤16 years. The initial complaint in the patients with AHP was ocular misalignment in 18 (60%) patients, AHP in 4 (13.3%), abnormal ocular movements in 4 (13.3%), double vision in 3 (10%), and droopy eyelid in 1 (3.3%). Comitant strabismus, nystagmus, and Duane syndrome were the most common causes of AHP. Other diagnoses included fourth nerve palsy, sixth nerve palsy, Brown syndrome, congenital muscular torticollis, ptosis, and blowout orbital fracture. Conclusions The leading underlying causes of AHP in patients who presented to an ophthalmology clinic were ocular and treatable. Of note, in only a minority of these patients AHP was the initial presenting complaint. Clinicians must be aware that observation of any head position that is not normal should prompt additional investigation, as the underlying pathology can cause treatable morbidity or in rare instances mortality, such as in cases of acute cranial nerve palsy.

Ocular Surface Alterations in the Context of Corneal In Vivo Confocal Microscopic Characteristics in Patients With Fibromyalgia

Purpose: To quantify the morphology of corneal basal epithelium and subbasal nerves and to evaluate the ocular surface alterations in patients with fibromyalgia (FM). Methods: Patients with FM (n = 34) and healthy controls (n = 42) were enrolled. All participants underwent ocular surface tests in the following order: corneal sensitivity, tear film breakup time, lissamine green staining, Schirmer test, and the Ocular Surface Disease Index questionnaire. Basal epithelial cells and subbasal nerves were evaluated using in vivo confocal microscopy (IVCM). Demographic characteristics, Visual Analog Scale for Pain (VAS), American College of Rheumatology 1990, the Widespread Pain Index (WPI), and the Symptom Impact Questionnaire (SIQR) scores of patients with FM were obtained. Results: Corneal sensitivity was 0.4 g/mm2 (fiber length: 6.0 cm) in all eyes. Patients with FM had a higher Ocular Surface Disease Index (42.2 ± 18.9 vs. 1.2 ± 1.7, P < 0.001), higher lissamine green staining scores (0.5 ± 0.5 vs. 0.05 ± 0.2, P < 0.001), and lower tear breakup time scores (9.0 ± 3.6 vs. 10.3 ± 1.5, P = 0.003) than the controls. Basal epithelial cell density (2709 ± 494 vs. 4491 ± 724), total nerve density (1563 ± 620 vs. 2545 ± 973), long nerve fibers (3.4 ± 1.3 vs. 4.5 ± 1.0), and the number of nerves (5.0 ± 1.8 vs. 10.3 ± 2.1) were all lower in patients with FM compared with those of the controls (P < 0.001 for all). There was a statistically significant negative correlation between the WPI score and Schirmer test results (rho = −0.374, P = 0.03) and between WPI and total nerve density (rho = −0.334, P = 0.054). Conclusions: To the best of our knowledge, this is the first study that evaluated ocular surface alterations in the context of corneal IVCM characteristics. Patients with FM should be evaluated in terms of ocular surface diseases. IVCM may be used in FM to assess small fiber neuropathy.

Effect of Visual Acuity on the Surgical Outcomes of Secondary Sensory Strabismus.

Objectives: To investigate the outcomes of secondary sensory strabismus surgery and to discuss the effect of visual acuity on success. Materials and Methods: The medical records of patients with sensory strabismus who underwent recession-resection on the eye with vision loss were reviewed. Only patients with visual acuity of ≤0.2 in the operated eye were enrolled. Data including age at surgery, visual acuity, etiology of vision loss, preoperative and postoperative deviations, follow-up duration, and surgical outcomes were recorded. Success was defined as a final deviation of ≤10 prism diopters (PD). To evaluate the effect of visual acuity on postoperative success, patients were grouped as follows according to the visual acuity of the operated eye: group 1, visual acuity <0.05; group 2, 0.05-0.1; and group 3, 0.125-0.2. Results: Ten females and 14 males met the inclusion criteria. The mean age at surgery was 21 years (range, 6 to 56 years). The mean preoperative deviation angle was 52.7 PD (range, 20 to 80 PD). Age at surgery, preoperative deviation and follow-up time were similar in patients with esotropia (n=7) and exotropia (n=17) (p>0.05 for all). The success rate was 62.5% at short-term and 42.1% at long-term follow-up. There was no statistically significant difference in short-term success rate among visual acuity subgroups (p=0.331), whereas the difference was statistically significant at long-term follow-up (p=0.002). The long-term success rate was higher in group 3 compared to groups 1 and 2. Conclusion: Better visual acuity seems to be a potential predictor for higher long-term success after strabismus surgery in patients with sensory strabismus.

Bilateral choroidal detachment following cataract surgery in a 40-day-old infant

We report a case of bilateral choroidal detachment that occurred shortly after uneventful bilateral lensectomy and anterior vitrectomy. B-scan ultrasonography showed severe choroidal detachment in the right eye accompanied by limited detachment of the overlying retina and mild choroidal effusion in the left eye. Two bilateral peribulbar injections of corticosteroid 5 days apart resulted in complete resolution of the choroidal effusion in each eye.

Ocular surface alterations and in vivo confocal microscopic characteristics of corneas in patients with myasthenia gravis

Purpose: To evaluate ocular surface alterations and characteristics of corneal basal epithelium and subbasal nerves in patients with myasthenia gravis. Materials and methods: Myasthenia gravis patients (n = 21) and healthy controls (n = 20) were enrolled. All participants underwent ocular surface testing in the following order: tear break-up time, lissamine green staining, Schirmer I test with anesthesia, and Ocular Surface Disease Index questionnaire. The Cochet-Bonnet esthesiometer was used to measure corneal sensitivity. Basal epithelial cells and subbasal nerves were evaluated using in vivo confocal microscopy. Results: Myasthenia gravis patients had higher Ocular Surface Disease Index score (13.9 ± 15.0 vs 1.4 ± 2.2, p < 0.001) and lissamine green staining score (0.6 ± 0.4 vs 0.2 ± 0.4, p = 0.007). Break-up time score (9.3 ± 3.0 vs 9.9 ± 1.9, p = 0.481) and Schirmer I test score (16.5 ± 9.2 vs 19.3 ± 8.4, p = 0.323) did not differ significantly. Corneal sensation was 0.4 g/mm2 in all eyes. Patients with myasthenia gravis had lower basal epithelial cell density (3775.7 ± 938.1 vs 4983.1 ± 608.5, p < 0.001) and total nerve density (1956.1 ± 373.3 vs 2277.9 ± 405.0, p = 0.012) and higher subbasal nerve tortuosity (1.9 ± 0.8 vs 1.6 ± 0.7, p = 0.007) than controls. A significant increase in Ocular Surface Disease Index scores was found with decreasing basal epithelial cell density (rho = −0.518, p = 0.001). There was a significantly moderate negative correlation between the duration of myasthenia gravis and the number of corneal nerves (rho = −0.497, p = 0.022). Conclusion: Significant alterations of basal epithelial cells and subbasal nerves were demonstrated in myasthenia gravis patients although there was no difference of corneal sensitivity between myasthenia gravis patients and healthy controls. Thus, it should be borne in mind that myasthenia gravis patients deserve further evaluation with regard to ocular surface disease.

Is macular pigment optical density really involved in fixation preference

Purpose: To evaluate macular pigment optical density in healthy children and to compare the values with those of strabismic children with respect to fixation preference. Methods: The study recruited 54 healthy and 41 strabismic children. Two groups were matched in terms of gestational age, birth weight, and body mass index. All participants underwent complete ophthalmological evaluation and macular pigment optical density measurement and filled a self-reported food frequency questionnaire. Strabismic children were categorized according to fixation preference. Results: The mean age was 9.87 ± 2.39 years in healthy children and 9.07 ± 2.07 years in children with strabismus (p = 0.091). Mean macular pigment optical density was 0.23 ± 0.25 in healthy eyes and 0.25 ± 0.27 in non-preferred eyes of strabismic children (p = 0.964). Macular pigment optical density was significantly higher in preferred eyes of strabismic children (0.43 ± 0.34) compared to non-preferred eyes (p = 0.004) and healthy eyes (p = 0.001). There was a difference of macular pigment optical density between both eyes in patients with grades 1, 2, and 3 fixation preference, whereas patients with grade 4 preference had similar macular pigment optical density in both eyes (p = 0.008). There was a statistically significant positive correlation between macular pigment optical density in preferred eyes and body mass index (r = 0.354, p = 0.023). Conclusion: Preferred eyes of children with strabismus seem to have higher macular pigment optical density readings. This difference may emerge from the higher tendency of recognizing the flicker stimulus while preferred eye is under testing. Similar macular pigment optical density in healthy and non-preferred eyes and the fact that both lower than preferred eyes remain unexplained. It should be kept in mind that macular pigment optical density results should be carefully interpreted and macular pigment optical density in cases with strabismus should be further investigated.

Normative values for optical coherence tomography parameters in healthy children and interexaminer agreement for choroidal thickness measurements

PURPOSE To (a) determine the normative values for optical coherence tomography (OCT) parameters such as central macular thickness, retinal nerve fiber layer thickness, and choroidal thickness in healthy children; (b) investigate the relationships of these parameters with axial length, central corneal thickness, refractive errors, and intraocular pressure; and (c) determine interexaminer agreement for choroidal thickness measurements. METHODS In this cross-sectional study, 120 healthy children aged 8-15 years underwent detailed ophthalmological examination and OCT measurements. Choroidal thickness was measured at three separate locations by two independent examiners. RESULTS The mean global retinal nerve fiber layer thickness was 98.75 ± 9.45 μm (79.0-121.0). The mean central macular thickness was 232.29 ± 29.37 μm (190.0-376.0). The mean subfoveal choroidal thickness obtained by examiner 1 was 344.38 ± 68.83 μm and that obtained by examiner 2 was 344.04 ± 68.92 μm. Interexaminer agreement was between 99.6%-99.8% for choroidal thickness at three separate locations. Central macular thickness increased with axial length (r=0.245, p=0.007). Choroidal thickness increased with age (r=0.291, p=0.001) and decreased with axial length (r=-0.191, p=0.037). Global retinal nerve fiber layer thickness decreased with axial length (r=-0.247, p=0.007) and increased with central corneal thickness (r=0.208, p=0.022). Global retinal nerve fiber layer thickness positively correlated with choroidal thickness (r=0.354, p<0.001). Global retinal nerve fiber layer thickness (r=0.223, p=0.014) and choroidal thickness (r=0.272, p=0.003) increased with the spherical equivalent (D). CONCLUSIONS Optical coherence tomography parameters showed a wide range of variability in children. Retinal nerve fiber layer thickness, central macular thickness, and choroidal thickness were found to be either inter-related or correlated with age, central corneal thickness, axial length, and refractive errors. Furthermore, manual measurements of choroidal thickness showed high interexaminer agreement. Because normative values for optical coherence tomography parameters differed in children, the measurements should be interpreted according to an age-appropriate database.

Ocular Causes of Abnormal Head Position: Strabismus Clinic Data

Objectives: To determine the most common ocular causes and types of abnormal head position (AHP) and describe their clinical features. Materials and Methods: Patients with AHP who had been followed in the strabismus unit were retrospectively reviewed. Demographic features and orthoptic characteristics were recorded. Results: A total of 163 patients including 61 women (37.4%) and 102 men (62.6%), with a mean age of 19.9±18.3 were recruited. The most common causes of AHP were determined as fourth cranial nerve palsy (33.7%), Duane retraction syndrome (21.5%), sixth cranial nerve palsy (11%), nystagmus blockage syndrome (9.8%) and Brown syndrome (6.7%). Other less frequent causes were A-V pattern strabismus, comitant strabismus, thyroid orbitopathy and third cranial nerve palsy. The most common types of AHP were head tilt (45.4%) and face turn (36.8%). Out of 142 patients whose visual acuity could be evaluated, 28.2% had amblyopia. The frequency of amblyopia varied depending on the diagnosis (p<0.001), while there was no relation between amblyopia and different types of AHP (p=0.497). Stereopsis and fusion could be tested in 128 patients and 43.8% of them had stereopsis and fusion. The presence of stereopsis and fusion was found to be related with the diagnosis (p=0.001), whereas it was not related with the types of AHP (p=0.580). The presence of amblyopia was not significantly associated with fusion (p=1.000) or stereopsis (p=0.602). Conclusion: There are many ocular pathologies that cause AHP. Patients with similar diagnoses may have different types of AHP. Patients may have amblyopia and impaired binocularity despite AHP. Therefore, all patients with AHP should be examined in detail and these points should be considered in the treatment plan.

Clinical risk factors for the development of consecutive exotropia: a comparative clinical study

AIM To compare a group of patients with consecutive exotropia with patients who had ≤10 prism diopters (PD) esotropia or no deviation postoperatively in terms of probable clinical risk factors for the development of consecutive exotropia. METHODS The study recruited fourteen patients who developed consecutive exodeviation during follow-up period after the correction of esotropia who were categorized as group 1 and thirty-one patients who had still ≤10 PD esotropia or no deviation at the final visit that were considered as group 2. Clinical risk factors leading the development of consecutive deviation were analyzed as the main outcome measures. RESULTS The mean age of patients was 4.57±3.11y in group 1 and 5.10±3.52y in group 2 (P=0.634). There was no significant difference of preoperative near and distant deviations among two groups (P=0.835, 0.928 respectively). The mean amount of medial rectus recession and lateral rectus resection was similar in both groups (P=0.412, 0.648 respectively). Convergence insufficiency and neurological diseases were more frequent in group 1 (P=0.007, 0.045). Accompanying neurological disease was found to be as a significant factor increasing the risk of the development of consecutive exotropia significantly [odds ratios (OR): 5.75 (1.04-31.93)]. CONCLUSION Accompanying neurological disease appears to be a significant clinical risk factor for the development of consecutive exodeviation during postoperative follow-up after the correction of esotropia. However, larger studies are needed in order to interpret the results to the clinical practice and to ascertain other concurrent risk factors.