Correction to: Pigment dispersion syndrome and pigmentary glaucoma: a review and update.

In the original publication, introduction section under Abstract was published incorrectly. The correct version is given below.

Pigment dispersion syndrome and pigmentary glaucoma: a review and update.

INTRODUCTION: Pigment dispersion syndrome (PDS) is a condition where anomalous iridozonular contact leads to pigment dispersion throughout the anterior segment and the released pigment is abnormally deposited on various ocular structures. CLINICAL PRESENTATION: The clinical presentation of PDS is defined by the presence of pigmented cells on the corneal endothelium, an increase of pigmentation of the trabecular meshwork, and mid-periphery transillumination defects of the iris. This syndrome, more common in myopes, is usually bilateral and can be associated with ocular hypertension or glaucoma. Secondary open-angle pigmentary glaucoma (PG) can develop due to reduction of the outflow of aqueous humour and consequent increase in intraocular pressure leading to glaucomatous optic neuropathy. Diagnosis of PG is commonly between 40 and 50 years of age, occurring more frequently in men. The advent of ultrasound biomicroscopy and anterior segment optical coherence tomography has contributed to enhancing our knowledge on the condition. Typical alterations of the anterior segment are the posterior insertion of the iris and iris concavity. Treatment of PG should be initiated early to hinder disease progression, glaucomatous damage, and vision loss. Management is based on medical therapy, laser iridotomy, selective laser trabeculoplasty, and filtration procedures. CONCLUSIONS: The differential diagnosis of PDS with other disorders can be challenging and awareness of the condition together with meticulous ophthalmologic examination allows early diagnosis followed by appropriate management strategies. The present review is a comprehensive report on the clinical characteristics, pathogenesis, current management, and status quo of PDS and PG.

Sturge-Weber Syndrome Associated with Monolateral Ocular Melanocytosis, Iris Mammillations, and Diffuse Choroidal Haemangioma.

We present the case of a 12-year-old boy with Sturge-Weber syndrome and ocular melanocytosis who presented with bilateral naevus flammeus of the face and hyperpigmentation of the right iris associated with ipsilateral iris mammillations. The patient had glaucoma and a diffuse choroidal haemangioma of the right eye. Optical coherence tomography of the anterior segment confirmed iris hyper-pigmentation and did not show abnormalities of the chamber angle structures. B-scan ultrasonography and enhanced depth imaging optical coherence tomography were performed and showed a marked difference in thickness and reflectance between the right and left choroid. Visual field examinations with perimetry showed early defects in the right eye. Peripapillary optical coherence imaging showed borderline values of retinal nerve fibre layer thickness reduction in the right eye. Sturge-Weber syndrome associated with ocular melanocytosis and iris mammillations is an extremely rare condition. This paper highlights the role of multi-imaging methods in the enhanced evaluation of rare diseases towards choosing the most appropriate management strategies and improving the follow-up of patients over time.

Glaucoma Management in Carotid Cavernous Fistula.

Carotid cavernous fistulas (CCF) are vascular communications between the carotid artery and the cavernous sinus. Ophthalmologists are called to diagnose and manage the condition in cases that present with ocular features. A 73-year-old female was referred to our glaucoma center clinic. Eight years before, she had started receiving medication for glaucoma and had undergone laser iridotomy, but a satisfactory management of intraocular pressure (IOP) had not been achieved. The patient was complaining of intermittent diplopia, bilateral proptosis, and conjunctival chemosis over the past 6 months. Best-corrected visual acuity in the right (OD) and left eye (OS) was 9/10 and 10/10, respectively. Visual field testing showed slight paracentral field defects mostly in OS. IOP was 20 mm Hg in OD and 34 mm Hg in OS. We referred the patient to neuroradiology, and MRI angiography revealed a CCF with angiographic classification of Cognard grade 2. Closure of the CCF by transarterial embolization was performed in the neuroradiology department. One week following the procedure, the clinical signs of diplopia, proptosis, and conjunctival chemosis had greatly improved, and IOP was reduced to 12 mm Hg OD and 19 mm Hg in OS. Glaucoma treatment was maintained with topical brimatoprost, brinzolamide, and timolol. Owing to the risk of vision loss associated with vascular stasis, retinal ischemia, and high IOP, ophthalmologists must be aware of the clinical features of CCF and should request appropriate imaging studies such as MRI angiography in order to confirm the diagnosis and plan multidisciplinary treatment.

SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY EVIDENCE OF RETINAL NERVE FIBER LAYER AND GANGLION CELL LOSS IN ADULT PATIENTS WITH NEUROFIBROMATOSIS TYPE 1.

PURPOSE: To evaluate peripapillary retinal nerve fiber layer, macular retinal nerve fiber layer, and ganglion cell layer-inner plexiform layer thickness and analyze their correlations in adult patients with neurofibromatosis Type 1 (NF1) and disease-free controls. METHODS: This cross-sectional study was performed at the Azienda Policlinico Umberto I, University of Rome "La Sapienza." All participants underwent complete ophthalmologic examination. Spectral domain optical coherence tomography was used to evaluate peripapillary retinal nerve fiber layer and obtain retinal segmentation measurements to assess macular retinal nerve fiber layer and ganglion cell layer-inner plexiform layer at 1,000 µm nasal, temporal, superior, and inferior to the fovea. RESULTS: Thirty-four eyes of 17 patients with NF1 (mean age, 42.2 ± 14.3 years) and 34 eyes of 17 disease-free control subjects (mean age, 41.4 ± 12.2 years) were included. All participants had best-corrected visual acuity of 20/20. The mean thickness of peripapillary retinal nerve fiber layer, macular retinal nerve fiber layer, and ganglion cell layer-inner plexiform layer was lower in patients with NF1 with respect to controls (P = 0.003, P = 0.022, P < 0.001, respectively). Regression analysis showed a significant correlation (P < 0.001) between mean ganglion cell layer-inner plexiform layer thickness and mean peripapillary retinal nerve fiber layer thickness in patients with NF1. CONCLUSION: Retinal nerve fiber layer and ganglion cell loss correlate well with each other in adult patients with NF1 in comparison with a healthy control population.

Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management.

Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of sporadic cases. Childhood glaucoma is classified in primary and secondary congenital glaucoma, further divided as glaucoma arising in dysgenesis associated with neural crest anomalies, phakomatoses, metabolic disorders, mitotic diseases, congenital disorders, and acquired conditions. Neural crest alterations lead to the wide spectrum of iridocorneal trabeculodysgenesis. Systemic diseases associated with childhood glaucoma include the heterogenous group of phakomatoses where glaucoma is frequently encountered in the Sturge-Weber syndrome and its variants, in phakomatosis pigmentovascularis associated with oculodermal melanocytosis, and more rarely in neurofibromatosis type 1. Childhood glaucoma is also described in systemic disorders of mitotic and metabolic activity. Acquired secondary glaucoma has been associated with uveitis, trauma, drugs, and neoplastic diseases. A database research revealed reports of childhood glaucoma in rare diseases, which do not include glaucoma in their manifestation. These are otopalatodigital syndrome, complete androgen insensitivity, pseudotrisomy 13, Brachmann-de Lange syndrome, acrofrontofacionasal dysostosis, caudal regression syndrome, and Wolf-Hirschhorn syndrome.

Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?

The phakomatoses have been traditionally defined as a group of hereditary diseases with variable expressivity characterized by multisystem tumors with possible malignant transformation. The Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and the phakomatosis pigmentovascularis have the facial port-wine stain in common. Numerous pathophysiogenetic mechanisms have been suggested such as venous dysplasia of the emissary veins in the intracranial circulation, neural crest alterations leading to alterations of autonomic perivascular nerves, mutation of the GNAO gene in the Sturge-Weber syndrome, PIK3CA mutation in malformative/overgrowth syndromes such as the Klippel-Trenaunay syndrome, and the twin-spotting phenomenon in phakomatosis pigmentovascularis. Other features linked to the port-wine stain and typical to all of the three conditions are glaucoma and choroidal alterations. Glaucoma can be due to malformations of the anterior chamber or high episcleral venous pressure and in phakomatosis pigmentovascularis it can also be associated with angle hyperpigmentation. The choroid can be thickened in all diseases. Furthermore, choroidal melanocytosis in the phakomatosis pigmentovascularis can lead to malignant transformation. Although the multiple pathophysiological mechanisms still require clarification, similarities in ophthalmic manifestations make it reasonable to classify these diseases in an independent group.

Effects of phytoestrogen supplementation in postmenopausal women with dry eye syndrome: a randomized clinical trial.

OBJECTIVE: To evaluate the correlation between tear osmolarity and blood levels of 17-ß estradiol, estrone, and testosterone in postmenopausal women with dry eye syndrome, and to assess the efficacy and safety of oral supplementation with phytoestrogens, lipoic acid, and eicosapentaenoic acid in this population. DESIGN: Cross-sectional study including 66 postmenopausal women with dry eye syndrome. METHODS: Sixty-six postmenopausal women with dry eye syndrome were enrolled in a randomized, double-blind, placebo-controlled, crossover study. Patients were divided into 2 groups (groups A and B) and treated, respectively, with phytoestrogen (Bioos, Montegiorgio, Italy) tablets or placebo tablets for 30 days. The 2 treatment periods were separated by a 30-day washout. Patients were examined on days 0 and 30 of each period. Assessments included blood levels of sex hormones, the Schirmer test for tear production, and measurement of tear osmolarity and tear film break-up time. RESULTS: At baseline, all patients had low sex hormone levels, which were correlated with high tear film osmolarity values (r = -0.59,-0.61,-0.58, respectively). After 30 days of therapy, the group treated with Lacrisek® (Bioos) had significantly decreased tear osmolarity (P<0.005) and significantly increased tear production evaluated with the Schirmer test and tear film break-up time values (P<0.001) compared with the placebo-treated group. CONCLUSIONS: Our study confirms that steroid hormones play an important role in ocular surface equilibrium and functions. Consequently, reduced blood levels of these hormones can produce changes at the ocular surface. Phytoestrogen supplementation can significantly improve the signs and symptoms of dry eye syndrome in postmenopausal women.

Identification of a novel mutation in the PTCH gene in a patient with Gorlin-Goltz syndrome with unusual ocular disorders.

PURPOSE: To document the clinical, functional, and in vivo microanatomic characteristics of a patient with Gorlin-Goltz syndrome with a novel nonsense mutation in PTCH (patched). METHODS: Optical coherence tomography (OCT), fluorescein angiography, electrophysiologic testing, visual field, magnetic resonance imaging, and mutation screening of PTCH gene. RESULTS: Visual acuity was 20/20 in the right eye and 20/25 in the left. Fundus examination revealed myelinated nerve fibers in the left eye and bilateral epiretinal membranes with lamellar macular hole also documented with macular OCT. A reduction of the retinal nerve fiber layers in both eyes was found with fiber nervous OCT. Fluorescein angiography showed bilaterally foveal hyperfluorescence and the visual field revealed inferior hemianopia in the right eye. Pattern visual evoked potentials registered a reduction of amplitude in both eyes and latency was delayed in the left eye. Pattern electroretinogram showed a reduction in P50 and N95 peak time and a delay in P50 peak time in the left eye. Flash electroretinogram was reduced in rod response, maximal response, and oscillatory potentials in both eyes. Cone response was normal and 30-Hz flicker was slightly reduced in both eyes. Mutation screening identified a novel nonsense mutation in PTCH. CONCLUSIONS: A novel nonsense mutation in the PTCH gene was found. We report the occurrence of epiretinal membranes and the persistence of myelinated nerve fibers. Electrophysiologic and visual field alterations, supporting a neuroretinal dysfunction, were also documented.

Efficacy of 2% ibopamine on the dilation of patients with pseudoexfoliation syndrome.

PURPOSE: To compare the mydriatic effects of 2% ibopamine and collyrium containing 10% phenylephrine + 0.5% tropicamide and to study the associated drug in patients with ocular pseudoexfoliation (PEX) syndrome. METHODS: This was a prospective, comparative, interventional clinical study. The study group consisted of 20 patients with ocular PEX syndrome. Intervention procedures included administration of 10% phenylephrine-0.5% tropicamide versus 2% ibopamine versus 2% ibopamine followed by the combination drug. Main outcome measurement was mydriatic efficacy measured in terms of mean pupil diameter. Adverse effects on intraocular pressure (IOP) were measured with a Goldmann applanation tonometer. Mean premedication pupil diameters in all patients were less than 3.5 mm. RESULTS: Instillation of 10% phenylephrine-0.5% tropicamide caused significantly greater mydriasis than 2% ibopamine (pupil diameters: 6.17 mm, SD=1.14 versus 5.33 mm, SD=1.34; p<0.001). Combined use of both collyria significantly increased mydriasis (7.19 mm; SD=0.69) compared with that induced by either of the products alone (p<0.001). Inadequate mydriasis (pupil diameters < 5.5 mm) was observed in 2 patients after administration of 10% phenylephrine-0.5% tropicamide and in 10 following instillation of 2% ibopamine, but the addition of 10% phenylephrine -0.5% tropicamide to ibopamine-treated eyes resulted in adequate dilation in all cases. IOP increases of 4 mmHg over baseline values were observed in 12 (60%) patients after 2% ibopamine. CONCLUSIONS: In patients with ocular PEX, instillation of 2% ibopamine exerts a significant additive effect on mydriasis induced with 10% phenylephrine-0.5% tropicamide with only minimal increases in IOP.

Dirofilaria repens in the eyelid: case report of subcutaneous manifestation.

PURPOSE: The authors report a case of eyelid subcutaneous filariasis. METHODS: Thorough history, eye examination, surgical intervention, and parasitologic analysis. RESULTS: An adult Dirofilaria repens worm was extracted from the right upper eyelid in a man living in Italy presenting to our department with lid swelling. CONCLUSIONS: Due to increasing migration of populations to Europe, rare manifestations of ocular filariasis are becoming more common. Surgery was both diagnostic and therapeutic.

The influence of learning effect on frequency doubling technology perimetry (Matrix).

PURPOSE: To determine learning effect in healthy patients without perimetric experience, tested with the frequency doubling technology perimetry, with the new model Matrix. PATIENTS AND METHODS: Frequency doubling technology in the 30-2 threshold mode was performed on 37 healthy subjects. Each subject was tested twice in different sessions. The test always began with the right eye (RE) and continued with the left eye (LE). To evaluate learning effect the results of the REs at the first session were compared with those of the LE. The following parameters were evaluated: foveal threshold (FT), reliability indexes, mean defect (MD), pattern standard deviation (PSD), glaucoma hemifield test (GHT), duration of examination. RESULTS: At the first session the average values of RE were FT=30.81 db, MD=-1 db, PSD=3.01 db, and duration of the examination=383.27 "and of LE were FT=30.73, MD=-0.79 db, PSD=2.97 db, and duration of examination 382.62." At the second session the average values of RE were FT=32.22 db, MD=+0.16 db, PSD 2.75 db, and duration of examination=374.97 db. The reliability was different and the GHT between the RE and LE in the first and second session was also different. CONCLUSIONS: A learning effect was observed between the first and the second sessions and the results of the GHT appeared improved. This above all should be taken into account when considering the clinical use of this test to avoid erroneous diagnostic conclusions.

An instrument for biofeedback applied to vision.

One hundred and ten patients (179 eyes) with reduced visual acuity caused by different ocular disorders underwent visual rehabilitation with an instrument for biofeedback: improved biofeedback integrated system (Ibis). One hundred and fourteen eyes had age-related macular degeneration, 39 eyes had myopic macular degeneration, and 26 eyes were affected by different ocular disorders. A placebo training was developed on 34 patients (47 eyes). Thirty-three eyes had age-related macular degeneration and 15 eyes had myopic macular degeneration. Visual acuity was found to be improved in 130/179 eyes (72.62%). Mean visual acuity was 0.24 before training and 0.36 at the last follow-up. A review of the literature and possible mechanisms are discussed.

Open-angle glaucoma: variations in the intraocular pressure after visual field examination.

PURPOSE: To evaluate intraocular pressure (IOP) variations after automated visual field examination in patients with primary open-angle glaucoma and in healthy subjects. PATIENTS AND METHODS: Intraocular pressure was measured in 49 patients (94 eyes) with primary open-angle glaucoma and in 13 healthy subjects (26 eyes) before and immediately after automated visual field examination. All patients had stable IOP and were using local medication to treat glaucoma. The visual field test was performed with a Humphrey 630 VF analyzer and the Central 30-2 full-threshold program. RESULTS: Mean IOP increased significantly in glaucomatous patients immediately after automated visual field examination (P < 0.01), and returned to pretest values after 1 hour (P = 0.2). Mean IOP variation was 2.38 (range, -6-11) mm Hg. In 42 (44.68%) glaucomatous eyes, IOP increased more than 2 mm Hg, with a mean increase of 5.5 mm Hg. Elderly glaucoma patients showed a significantly higher IOP rise than younger patients. No significant IOP variation was detected in healthy subjects. CONCLUSION: Intraocular pressure varied significantly and tended to increase immediately after automated visual field examination in patients with primary open-angle glaucoma. Age seemed to contribute to these IOP changes, but other factors could be involved.

Outer layer breaks and asymptomatic schisis detachment: clinical considerations.

BACKGROUND AND OBJECTIVE: To provide a detailed description of the clinical features that are considered forerunners of symptomatic complications in asymptomatic degenerative retinoschisis, and to show that in selected cases at this stage prophylactic photocoagulation may be a better choice than mere observation. MATERIALS AND METHODS: Forty-three eyes of 27 patients with asymptomatic bullous degenerative retinoschisis and outer layer breaks (OLBs) were studied through binocular indirect dynamic ophthalmoscopy and retinal biomicroscopy with the Goldmann 3-mirror lens, fundus drawings, and photographs where feasible. Argon laser treatment was performed on each eye: first, around the posterior border of the schisis to achieve a full-thickness retinal scar, and then on the schisis itself to promote scarring of the retinal pigment epithelium, thus avoiding retinal detachment. The follow up was 2 years minimum after treatment. RESULTS: OLBs usually involved the largest schises when multiple retinal splittings were present. Breaks were single in 18 eyes (peripheral in 16 and posterior in 2) and multiple in 25 (peripheral in 15 and posterior in 10). Overall, 23 eyes showed asymptomatic retinal detachment (schisis detachment): 20 with peripheral outer layer breaks and 3 with posterior breaks. Schisis detachment was localized to the schisis area in the first group, whereas it extended beyond the posterior boundary of retinoschisis in the latter. After treatment, no posterior progression of retinoschisis was noted nor did symptomatic retinal detachment arise. Only 1 eye had complications in the second step of the treatment that was later resolved with medical care. CONCLUSION: Prophylactic Argon laser photocoagulation can be used safely in the asymptomatic stage of bullous retinoschisis with outer layer breaks to avoid the onset of acute symptomatic retinal detachment.